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{{Infobox medical condition
{{Infobox medical condition (new)
| Name = Pili torti
| name = Pili torti
| Image = Menkes disease3.jpg
| synonyms =
| Caption = Menkes disease
| image = Menkes disease3.jpg
| DiseasesDB = 29682
| caption = [[Menkes disease]]
| pronounce =
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| ICD10 = {{ICD10|Q|84|1|q|80}} ([[ILDS]] Q84.120)
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| OMIM =
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'''Pili torti''' (also known as "Twisted hairs") is characterized by short and brittle hairs that appear flattened and twisted when viewed through a microscope.<ref name="Fitz2">Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. {{ISBN|0-07-138076-0}}.</ref>{{rp|638}}<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}.</ref>{{rp|764}}<ref name="Bolognia">{{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages= |isbn=1-4160-2999-0 |oclc= |doi= |accessdate=}}</ref>
'''Pili torti''' (singular '''pilus tortus'''; also known as "twisted hairs") is characterized by short and brittle hairs that appear flattened and twisted when viewed through a [[microscope]].<ref name="Fitz2">Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. {{ISBN|0-07-138076-0}}.</ref>{{rp|638}}<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}.</ref>{{rp|764}}<ref name="Bolognia">{{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |isbn=978-1-4160-2999-1 }}</ref>


Pili torti can be acquired or inherited. Many different genetic syndromes such as [[Björnstad syndrome]] and [[Menkes disease]] can cause pili torti. Different [[Ectodermal dysplasia|ectodermal dysplasias]] like [[Rapp–Hodgkin syndrome|Rapp-Hodgkin syndrome]] and [[Hay–Wells syndrome|ankyloblepharon-ectodermal defects-cleft lip/palate syndrome]] can also cause pili torti. Acquired pili torti can be associated with different dermatological conditions or medications. Pili torti is often associated with [[Scarring hair loss|cicatricial alopecia]] including [[Lichen planus|lichen planopilaris]], [[frontal fibrosing alopecia]], and [[discoid lupus erythematosus]]. [[Epidermal growth factor receptor]] inhibitors, oral [[Retinoid|retinoids]], [[Valproate|sodium valproate]], and carbamide perhydrate have been known to induce pili torti.
This phenotype is noted in [[Menkes disease]].


The diagnosis of pili torti is made via trichoscopic and microscopic inspection. Pili torti does not have any specific treatment.
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==See also==

== Signs and symptoms ==
Clinically, the hair of individuals with pili torti is dry, coarse, brittle, and fragile. It could lead to patchy [[Hair loss|alopecia]].<ref name="Feature of Numerous">{{cite journal | last1=Hoffmann | first1=Aleksandra | last2=Waśkiel-Burnat | first2=Anna | last3=Żółkiewicz | first3=Jakub | last4=Blicharz | first4=Leszek | last5=Rakowska | first5=Adriana | last6=Goldust | first6=Mohamad | last7=Olszewska | first7=Małgorzata | last8=Rudnicka | first8=Lidia | title=Pili Torti: A Feature of Numerous Congenital and Acquired Conditions | journal=Journal of Clinical Medicine | publisher=MDPI AG | volume=10 | issue=17 | date=2021-08-30 | issn=2077-0383 | doi=10.3390/jcm10173901 | doi-access=free | page=3901| pmid=34501349 | pmc=8432236 }}</ref> The most common area affected is the scalp, particularly the occipital and temporal regions. But the eyelashes, pubic hair, axilla, and eyebrows could also be affected.<ref name="Trichoscopy">{{cite journal | last1=Rudnicka | first1=Lidia | last2=Olszewska | first2=Małgorzata | last3=Waśkiel | first3=Anna | last4=Rakowska | first4=Adriana | title=Trichoscopy in Hair Shaft Disorders | journal=Dermatologic Clinics | publisher=Elsevier BV | volume=36 | issue=4 | year=2018 | issn=0733-8635 | doi=10.1016/j.det.2018.05.009 | pages=421–430| pmid=30201151 }}</ref> Typically, pili torti just impact a portion of the hair and do not alter the entire length of the hair.<ref name="genetic hair shaft">{{cite journal | last1=Rakowska | first1=Adriana | last2=Slowinska | first2=Monika | last3=Kowalska-Oledzka | first3=Elzbieta | last4=Rudnicka | first4=Lidia | title=Trichoscopy in genetic hair shaft abnormalities | journal=Journal of Dermatological Case Reports | publisher=Specjalisci Dermatolodzy | volume=2 | issue=2 | date=2008-07-07 | pages=14–20 | issn=1898-7249 | doi=10.3315/jdcr.2008.1009 | pmid=21886705 | pmc=3157768 }}</ref> Occasionally, isolated pili torti might be discovered in a typical scalp. But it could be connected to a lot of regional and systemic issues.<ref name="Hypohidrotic Ectodermal Dysplasia">{{cite journal | last1=Rouse | first1=Christopher | last2=Siegfried | first2=Elaine | last3=Breer | first3=Wayne | last4=Nahass | first4=George | title=Hair and Sweat Glands in Families With Hypohidrotic Ectodermal Dysplasia | journal=Archives of Dermatology | publisher=American Medical Association (AMA) | volume=140 | issue=7 | date=2004-07-01 | pages=850–855 | issn=0003-987X | doi=10.1001/archderm.140.7.850 | pmid=15262696 }}</ref>

== Causes ==
Pili torti can be aqquired or inherited.<ref name="Feature of Numerous"/> There are three types of inherited pili torti: classic early onset (Ronchese type), late onset (Beare type), and pili torti linked to hereditary illnesses or disorders.<ref name="Atlas of Trichoscopy"/>

Starting in early life, the classic (Ronchese) type is an autosomal dominant or recessive disease. The third month to the third year of life is when the sickness first manifests. Blond girls are more frequently impacted. Hair twist clusters are typically seen in early-onset pili torti. With age, the disease frequently gets better, especially after puberty.<ref name="Atlas of Trichoscopy"/><ref name="Hair shaft abnormalities">{{cite journal | last=Rogers | first=Maureen | title=Hair shaft abnormalities: Part I | journal=Australasian Journal of Dermatology | publisher=Wiley | volume=36 | issue=4 | year=1995 | issn=0004-8380 | doi=10.1111/j.1440-0960.1995.tb00969.x | pages=179–184| pmid=8593104 }}</ref>

Usually manifesting after puberty, late onset type is an autosomal dominant condition. People with dark hair seem to experience it more frequently. The hair twists in the late onset form are typically solitary, in contrast to the early onset kind.<ref name="Atlas of Trichoscopy"/><ref name="Hair shaft abnormalities"/>

Pili torti can also be associated with other genetic conditions such as abnormal hair, joint laxity, and developmental delay,<ref name="Shapira Neish Pober 2024 p. ">{{cite journal | last1=Shapira | first1=S K | last2=Neish | first2=A S | last3=Pober | first3=B R | title=Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities. | journal=Journal of Medical Genetics | publisher=BMJ Publishing Group | volume=29 | issue=7 | date=2024-03-14 | pages=509–510 | pmid=1379303 | pmc=1016033 }}</ref><ref name="Sharma Reichert Lu Markello 2019 p. e1008143">{{cite journal | last1=Sharma | first1=Prashant | last2=Reichert | first2=Marie | last3=Lu | first3=Yan | last4=Markello | first4=Thomas C. | last5=Adams | first5=David R. | last6=Steinbach | first6=Peter J. | last7=Fuqua | first7=Brie K. | last8=Parisi | first8=Xenia | last9=Kaler | first9=Stephen G. | last10=Vulpe | first10=Christopher D. | last11=Anderson | first11=Gregory J. | last12=Gahl | first12=William A. | last13=Malicdan | first13=May Christine V. | title=Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype | journal=PLOS Genetics | publisher=Public Library of Science (PLoS) | volume=15 | issue=5 | date=2019-05-24 | issn=1553-7404 | doi=10.1371/journal.pgen.1008143 | doi-access=free | page=e1008143| pmid=31125343 | pmc=6534290 }}</ref> [[Nager acrofacial dysostosis|acrofacial dysostosis, Palagonia type]],<ref name="G L A L p. ">{{cite journal | last1=G | first1=Sorge | last2=L | first2=Pavone | last3=A | first3=Polizzi | last4=L | first4=Mauceri | last5=RM | first5=Leonardi | last6=T | first6=Tripi | last7=JM | first7=Opitz | title=Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family | journal=American Journal of Medical Genetics | date=1997 | publisher=Am J Med Genet | volume=69 | issue=4 | pages=388–394 | issn=0148-7299 | pmid=9098488 | doi=10.1002/(sici)1096-8628(19970414)69:4<388::aid-ajmg10>3.0.co;2-j |url=https://pubmed.ncbi.nlm.nih.gov/9098488/ | access-date=2024-03-24 }}</ref> [[argininosuccinic aciduria]],<ref name="Phillips Barrie Cream 1981 pp. 221–222">{{cite journal | last1=Phillips | first1=M E | last2=Barrie | first2=H | last3=Cream | first3=J J | title=Arginosuccinic Aciduria with Pili Torti | journal=Journal of the Royal Society of Medicine | publisher=SAGE Publications | volume=74 | issue=3 | year=1981 | issn=0141-0768 | doi=10.1177/014107688107400314 | pages=221–222| pmid=7205861 | pmc=1438288 }}</ref> autosomal recessive ichthyosis with hypotrichosis,<ref name="Basel-Vanagaite Attia Ishida-Yamamoto Rainshtein 2007 pp. 467–477">{{cite journal | last1=Basel-Vanagaite | first1=Lina | last2=Attia | first2=Revital | last3=Ishida-Yamamoto | first3=Akemi | last4=Rainshtein | first4=Limor | last5=Ben Amitai | first5=Dan | last6=Lurie | first6=Raziel | last7=Pasmanik-Chor | first7=Metsada | last8=Indelman | first8=Margarita | last9=Zvulunov | first9=Alex | last10=Saban | first10=Shirley | last11=Magal | first11=Nurit | last12=Sprecher | first12=Eli | last13=Shohat | first13=Mordechai | title=Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase | journal=The American Journal of Human Genetics | publisher=Elsevier BV | volume=80 | issue=3 | year=2007 | issn=0002-9297 | doi=10.1086/512487 | pages=467–477| pmid=17273967 | pmc=1821100 }}</ref> [[Bazex–Dupré–Christol syndrome|Bazex-Dupre-Christol syndrome]],<ref name="Yung Newton-Bishop 2005 pp. 682–684">{{cite journal | last1=Yung | first1=A. | last2=Newton-Bishop | first2=J.A. | title=A case of Bazex-Dupré-Christol syndrome associated with multiple genital trichoepitheliomas | journal=British Journal of Dermatology | publisher=Oxford University Press (OUP) | volume=153 | issue=3 | date=2005-08-05 | issn=0007-0963 | doi=10.1111/j.1365-2133.2005.06819.x | pages=682–684| pmid=16120174 }}</ref> [[Björnstad syndrome]],<ref name="Richards Mancini 2002 pp. 301–303">{{cite journal | last1=Richards | first1=Kristen A. | last2=Mancini | first2=Anthony J. | title=Three members of a family with pili torti and sensorineural hearing loss: The Bjornstad syndrome | journal=Journal of the American Academy of Dermatology | publisher=Elsevier BV | volume=46 | issue=2 | year=2002 | issn=0190-9622 | doi=10.1067/mjd.2002.107969 | pages=301–303| pmid=11807445 }}</ref><ref name="PETIT DONTENWILLE BLANCHET BARDON CIVATTE 1993 pp. 94–95">{{cite journal | last1=PETIT | first1=A. | last2=DONTENWILLE | first2=M.M. | last3=BLANCHET BARDON | first3=C. | last4=CIVATTE | first4=J. | title=Pili torti with congenital deafness (Bjornstad's syndrome)- report of three cases in one family, suggesting autosomal dominant transmission | journal=Clinical and Experimental Dermatology | publisher=Oxford University Press (OUP) | volume=18 | issue=1 | year=1993 | issn=0307-6938 | doi=10.1111/j.1365-2230.1993.tb00983.x | pages=94–95| pmid=8440069 }}</ref> [[citrullinemia]],<ref name="Patel Unis 1985 pp. 203–206">{{cite journal | last1=Patel | first1=Harish P. | last2=Unis | first2=Mark E. | title=Pili torti in association with citrullinemia | journal=Journal of the American Academy of Dermatology | publisher=Elsevier BV | volume=12 | issue=1 | year=1985 | issn=0190-9622 | doi=10.1016/s0190-9622(85)80018-9 | pages=203–206| pmid=3973120 }}</ref> [[congenital disorder of glycosylation]], type Ia,<ref name="Silengo Valenzise Pagliardini Spada 2003 pp. 114–115">{{cite journal | last1=Silengo | first1=Margherita | last2=Valenzise | first2=Mariella | last3=Pagliardini | first3=Severo | last4=Spada | first4=Marco | title=Hair changes in congenital disorders of glycosylation (CDG type 1) | journal=European Journal of Pediatrics | publisher=Springer Science and Business Media LLC | volume=162 | issue=2 | year=2003 | issn=0340-6199 | doi=10.1007/s00431-002-1054-1 | pages=114–115| pmid=12607543 }}</ref> [[congenital erythropoietic porphyria]],<ref name="congenital and acquired">{{cite journal |last1=Kurwa |first1=A R |last2=Abdel-Aziz |first2=A H |title=Pili torti-congenital and acquired |journal=Acta Dermato-venereologica |date=1973 |volume=53 |issue=5 |pages=385–392 |doi=10.2340/0001555553385392 |pmid=4127474|doi-access=free }}</ref> [[Hypotrichosis with juvenile macular dystrophy|congenital hypotrichosis with juvenile macular dystrophy]],<ref name="Hoeger Kinsler Yan Harper 2019 p. 2">{{cite book | last1=Hoeger | first1=P.H. | last2=Kinsler | first2=V. | last3=Yan | first3=A.C. | last4=Harper | first4=J. | last5=Oranje | first5=A.P. | last6=Bodemer | first6=C. | last7=Larralde | first7=M. | last8=Luk | first8=D. | last9=Mendiratta | first9=V. | last10=Purvis | first10=D. | title=Harper's Textbook of Pediatric Dermatology | publisher=Wiley | year=2019 | isbn=978-1-119-14280-5 |url=https://books.google.com/books?id=-tbBDwAAQBAJ&pg=PP2 | access-date=2024-03-24 | page=2}}</ref> [[Conradi–Hünermann syndrome|Conradi-Hünermann syndrome]],<ref name="McMichael Hordinsky 2018 p. 8">{{cite book | last1=McMichael | first1=A.J. | last2=Hordinsky | first2=M.K. | title=Hair and Scalp Disorders: Medical, Surgical, and Cosmetic Treatments, Second Edition | publisher=CRC Press | year=2018 | isbn=978-1-351-16982-0 |url=https://books.google.com/books?id=fdtdDwAAQBAJ&pg=PT8 | access-date=2024-03-24 | page=325}}</ref> [[Crandall syndrome]],<ref name="Crandall Samec Sparkes Wright 1973 pp. 461–465">{{cite journal | last1=Crandall | first1=Barbara F. | last2=Samec | first2=Lawrence | last3=Sparkes | first3=Robert S. | last4=Wright | first4=Stanley W. | title=A familial syndrome of deafness, alopecia, and hypogonadism | journal=The Journal of Pediatrics | publisher=Elsevier BV | volume=82 | issue=3 | year=1973 | issn=0022-3476 | doi=10.1016/s0022-3476(73)80121-0 | pages=461–465| pmid=4698933 }}</ref> [[giant axonal neuropathy]],<ref name="Pilar dysplasia">{{cite journal |last1=Rybojad |first1=M |last2=Moraillon |first2=I |last3=Bonafé |first3=J L |last4=Cambon |first4=L |last5=Evrard |first5=P |title=Pilar dysplasia: an early marker of giant axonal neuropathy |journal=Annales de dermatologie et de venereologie |date=December 1998 |volume=125 |issue=12 |pages=892–893 |pmid=9922862 |language=French}}</ref> [[Hypotrichosis|hypotrichosis 6]],<ref name="Schaffer Bazzi Vitebsky Witkiewicz 2006 pp. 1286–1291">{{cite journal | last1=Schaffer | first1=Julie V. | last2=Bazzi | first2=Hisham | last3=Vitebsky | first3=Anna | last4=Witkiewicz | first4=Agnieszka | last5=Kovich | first5=Olympia I. | last6=Kamino | first6=Hideko | last7=Shapiro | first7=Lawrence S. | last8=Amin | first8=Snehal P. | last9=Orlow | first9=Seth J. | last10=Christiano | first10=Angela M. | title=Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions | journal=Journal of Investigative Dermatology | publisher=Elsevier BV | volume=126 | issue=6 | year=2006 | issn=0022-202X | doi=10.1038/sj.jid.5700237 | pages=1286–1291| pmid=16543896 | doi-access=free }}</ref><ref name="Zlotogorski Marek Horev Abu 2006 pp. 1292–1296">{{cite journal | last1=Zlotogorski | first1=Abraham | last2=Marek | first2=Dina | last3=Horev | first3=Liran | last4=Abu | first4=Almogit | last5=Ben-Amitai | first5=Dan | last6=Gerad | first6=Liora | last7=Ingber | first7=Arieh | last8=Frydman | first8=Moshe | last9=Reznik-Wolf | first9=Haike | last10=Vardy | first10=Daniel A. | last11=Pras | first11=Elon | title=An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis | journal=Journal of Investigative Dermatology | publisher=Elsevier BV | volume=126 | issue=6 | year=2006 | issn=0022-202X | doi=10.1038/sj.jid.5700251 | pages=1292–1296| pmid=16575393 | doi-access=free }}</ref> [[Laron syndrome]],<ref name="Lurie Ben-Amitai Laron 2004 pp. 314–318">{{cite journal | last1=Lurie | first1=R. | last2=Ben-Amitai | first2=D. | last3=Laron | first3=Z. | title=Laron Syndrome (Primary Growth Hormone Insensitivity): A Unique Model to Explore the Effect of Insulin-Like Growth Factor 1 Deficiency on Human Hair | journal=Dermatology | publisher=S. Karger AG | volume=208 | issue=4 | year=2004 | issn=1018-8665 | doi=10.1159/000077839 | pages=314–318| pmid=15178913}}</ref> [[Marie Unna hereditary hypotrichosis|Marie Unna hypotrichosis]],<ref name="Marie Unna">{{cite journal |last1=Spiegl |first1=B |last2=Hundeiker |first2=M |title=Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna) |journal=Fortschritte der Medizin |date=November 1979 |volume=97 |issue=44 |pages=2018–2022 |pmid=511082 |language=German}}</ref> [[McCune–Albright syndrome]],<ref name="McCune–Albright syndrome">{{cite journal |last1=Pierini |first1=A M |last2=Ortonne |first2=J P |last3=Floret |first3=D |title=Cutaneous manifestations of McCune–Albright syndrome: report of a case |journal=Annales de dermatologie et de venereologie |date=1981 |volume=108 |issue=12 |pages=969–976 |pmid=7337370 |language=French}}</ref> [[Menkes disease]],<ref name="Yang Cade Rezende Pereira 2015 pp. 29–31">{{cite journal | last1=Yang | first1=Jeane Jeong Hoon | last2=Cade | first2=Karine Valentim | last3=Rezende | first3=Flavia Cury | last4=Pereira | first4=José Marcos | last5=Pegas | first5=José Roberto Pereira | title=Clinical presentation of pili torti&nbsp;— Case report | journal=Anais Brasileiros de Dermatologia | publisher=FapUNIFESP (SciELO) | volume=90 | issue=3 suppl 1 | year=2015 | issn=0365-0596 | doi=10.1590/abd1806-4841.20153540 | pages=29–31| pmid=26312667 | pmc=4540501 }}</ref> [[Mitochondrial disease|mitochondrial diseases]],<ref name="Bodemer Rötig Rustin Cormier 1999 pp. 428–433">{{cite journal | last1=Bodemer | first1=Christine | last2=Rötig | first2=Agnès | last3=Rustin | first3=Pierre | last4=Cormier | first4=Valerie | last5=Niaudet | first5=Patrick | last6=Saudubray | first6=Jean-Marie | last7=Rabier | first7=Denis | last8=Munnich | first8=Arnold | last9=de Prost | first9=Yves | title=Hair and Skin Disorders as Signs of Mitochondrial Disease | journal=Pediatrics | publisher=American Academy of Pediatrics (AAP) | volume=103 | issue=2 | date=1999-02-01 | issn=1098-4275 | doi=10.1542/peds.103.2.428 | pages=428–433| pmid=9925836 }}</ref> [[Netherton syndrome]],<ref name="Shanmukhappa Kharge Shivaram Budamakuntala 2016 p. 294">{{cite journal | last1=Shanmukhappa | first1=AshaGowrappala | last2=Kharge | first2=Priyadarshini | last3=Shivaram | first3=Bhumika | last4=Budamakuntala | first4=Leelavathy | title=Comèl–Netherton's syndrome in siblings | journal=Indian Journal of Paediatric Dermatology | volume=17 | issue=4 | date=2016 | issn=2319-7250 | doi=10.4103/2319-7250.184332 | doi-access=free | page=294}}</ref><ref name="Srinivas Hiremagalore Suryanarayan Budamakuntala 2013 p. 225">{{cite journal | last1=Srinivas | first1=SahanaM | last2=Hiremagalore | first2=Ravi | last3=Suryanarayan | first3=Swetha | last4=Budamakuntala | first4=Leelavathy | title=Netherton syndrome with pili torti | journal=International Journal of Trichology | publisher=Medknow | volume=5 | issue=4 | year=2013 | pages=225–226 | issn=0974-7753 | doi=10.4103/0974-7753.130424 | doi-access=free | pmid=24778540 | pmc=3999660 }}</ref> [[occipital horn syndrome]],<ref name="Ronce Moizard Robb Toutain 1997 pp. 233–238">{{cite journal | last1=Ronce | first1=Nathalie | last2=Moizard | first2=Marie-Pierre | last3=Robb | first3=Laura | last4=Toutain | first4=Annick | last5=Villard | first5=Laurent | last6=Moraine | first6=Claude | title=A C2055T Transition in Exon 8 of the ATP7A Gene Is Associated with Exon Skipping in an Occipital Horn Syndrome Family | journal=The American Journal of Human Genetics | publisher=Elsevier BV | volume=61 | issue=1 | year=1997 | issn=0002-9297 | doi=10.1016/s0002-9297(07)64297-9 | pages=233–238| pmid=9246006 | pmc=1715861 }}</ref> [[Olmsted syndrome]],<ref name="Mevorah Goldberg Sprecher Bergman 2005 pp. S266–S272">{{cite journal | last1=Mevorah | first1=Baruch | last2=Goldberg | first2=Ilan | last3=Sprecher | first3=Eli | last4=Bergman | first4=Reuven | last5=Metzker | first5=Arieh | last6=Luria | first6=Raziel | last7=Gat | first7=Andrea | last8=Brenner | first8=Sarah | title=Olmsted syndrome | journal=Journal of the American Academy of Dermatology | publisher=Elsevier BV | volume=53 | issue=5 | year=2005 | issn=0190-9622 | doi=10.1016/j.jaad.2005.03.036 | pages=S266–S272| pmid=16227106 }}</ref> [[peeling skin syndrome]],<ref name="Mevorah Orion de Viragh Bergman 1998 pp. 373–376">{{cite journal | last1=Mevorah | first1=B. | last2=Orion | first2=E. | last3=de Viragh | first3=P. | last4=Bergman | first4=R. | last5=Gat | first5=A. | last6=Legume | first6=C. | last7=van Neste | first7=D.J.J. | last8=Brenner | first8=S. | title=Peeling Skin Syndrome with Hair Changes | journal=Dermatology | publisher=S. Karger AG | volume=197 | issue=4 | year=1998 | issn=1018-8665 | doi=10.1159/000018034 | pages=373–376| pmid=9873177 }}</ref> Salti-Salem syndrome,<ref name="Miteva Tosti 2013 pp. 473–481">{{cite journal | last1=Miteva | first1=Mariya | last2=Tosti | first2=Antonella | title=Dermatoscopy of hair shaft disorders | journal=Journal of the American Academy of Dermatology | publisher=Elsevier BV | volume=68 | issue=3 | year=2013 | issn=0190-9622 | doi=10.1016/j.jaad.2012.06.041 | pages=473–481| pmid=22940404 }}</ref> [[steatocystoma multiplex]],<ref name="Pietrzak Bartosinska Filip Rakowska 2015 pp. 521–523">{{cite journal | last1=Pietrzak | first1=Aldona | last2=Bartosinska | first2=Joanna | last3=Filip | first3=Agata A. | last4=Rakowska | first4=Adriana | last5=Adamczyk | first5=Michal | last6=Szumilo | first6=Justyna | last7=Kanitakis | first7=Jean | title=Steatocystoma multiplex with hair shaft abnormalities | journal=The Journal of Dermatology | publisher=Wiley | volume=42 | issue=5 | date=2015-03-21 | issn=0385-2407 | doi=10.1111/1346-8138.12837 | pages=521–523| pmid=25808203 }}</ref> [[tricho-hepato-enteric syndrome]],<ref name="Goulet Vinson Roquelaure Brousse 2008 p. ">{{cite journal | last1=Goulet | first1=Olivier | last2=Vinson | first2=Christine | last3=Roquelaure | first3=Bertrand | last4=Brousse | first4=Nicole | last5=Bodemer | first5=Christine | last6=Cézard | first6=Jean-Pierre | title=Syndromic (phenotypic) diarrhea in early infancy | journal=Orphanet Journal of Rare Diseases | publisher=Springer Science and Business Media LLC | volume=3 | issue=1 | date=2008-02-28 | issn=1750-1172 | doi=10.1186/1750-1172-3-6 | doi-access=free | page=6| pmid=18304370 | pmc=2279108 }}</ref> and [[trichothiodystrophy]], photosensitive.<ref name="Tay 1971 p. 4">{{cite journal | last=Tay | first=Chong Hai | title=Ichthyosiform Erythroderma, Hair Shaft Abnormalities, and Mental and Growth Retardation: A New Recessive Disorder | journal=Archives of Dermatology | volume=104 | issue=1 | date=1971-07-01 | pages=4–13 | issn=0003-987X | doi=10.1001/archderm.1971.04000190006002 | pmid=5120162 }}</ref><ref name="Botta Nardo Broughton Marinoni 1998 pp. 1036–1048">{{cite journal | last1=Botta | first1=Elena | last2=Nardo | first2=Tiziana | last3=Broughton | first3=Bernard C. | last4=Marinoni | first4=Stefano | last5=Lehmann | first5=Alan R. | last6=Stefanini | first6=Miria | title=Analysis of Mutations in the XPD Gene in Italian Patients with Trichothiodystrophy: Site of Mutation Correlates with Repair Deficiency, but Gene Dosage Appears to Determine Clinical Severity | journal=The American Journal of Human Genetics | publisher=Elsevier BV | volume=63 | issue=4 | year=1998 | issn=0002-9297 | doi=10.1086/302063 | pages=1036–1048| pmid=9758621 | pmc=1377495 }}</ref>

A diverse range of hereditary diseases known as [[Ectodermal dysplasia|ectodermal dysplasias]] are defined by birth abnormalities in one or more ectodermal structures and associated appendages, such as the hair, teeth, nails, and sweat glands.<ref name="Itin 2014 pp. 2472–2477">{{cite journal | last=Itin | first=Peter H. | title=Etiology and pathogenesis of ectodermal dysplasias | journal=American Journal of Medical Genetics Part A | publisher=Wiley | volume=164 | issue=10 | date=2014-04-08 | issn=1552-4825 | doi=10.1002/ajmg.a.36550 | pages=2472–2477| pmid=24715647 }}</ref> There have been reports of pili torti in several [[Ectodermal dysplasia|ectodermal dysplasias]], including ectodermal dysplasia with syndactyly,<ref name="Hoeger Kinsler Yan Harper 2019 p. 2"/> [[ankyloblepharon-ectodermal defects-cleft lip and palate syndrome]],<ref name="Dishop Bree Hicks 2009 pp. 1935–1941">{{cite journal | last1=Dishop | first1=Megan K. | last2=Bree | first2=Alanna F. | last3=Hicks | first3=M. John | title=Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome | journal=American Journal of Medical Genetics Part A | publisher=Wiley | volume=149A | issue=9 | date=2009-08-20 | issn=1552-4825 | doi=10.1002/ajmg.a.32826 | pages=1935–1941| pmid=19697429 }}</ref> [[Basan syndrome]],<ref name="Feature of Numerous"/> cleft lip/palate-ectodermal dysplasia syndrome,<ref name="Hoeger Kinsler Yan Harper 2019 p. 2"/> ectodermal dysplasia 4, hair/nail type,<ref name="Calzavara-Pinton Carlino Benetti de Panfilis 1991 pp. 184–187">{{cite journal | last1=Calzavara-Pinton | first1=P. | last2=Carlino | first2=A. | last3=Benetti | first3=A. | last4=de Panfilis | first4=G. | title=Pili torti and Onychodysplasia | journal=Dermatology | volume=182 | issue=3 | date=1991 | issn=1018-8665 | doi=10.1159/000247779 | pages=184–187}}</ref> [[ectodermal dysplasia with corkscrew hairs]],<ref name="Abramovits-Ackerman Bustos Simosa-Leon Fernandez 1992 pp. 917–921">{{cite journal | last1=Abramovits-Ackerman | first1=William | last2=Bustos | first2=Tania | last3=Simosa-Leon | first3=Venancio | last4=Fernandez | first4=Luis | last5=Ramella | first5=Marcos | title=Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with corkscrew hairs | journal=Journal of the American Academy of Dermatology | publisher=Elsevier BV | volume=27 | issue=6 | year=1992 | issn=0190-9622 | doi=10.1016/0190-9622(92)70287-p | pages=917–921| pmid=1479096 }}</ref> ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3,<ref name="Wawrzycki Pietrzak Chodorowska Filip 2019 pp. 358–364">{{cite journal | last1=Wawrzycki | first1=Bartłomiej | last2=Pietrzak | first2=Aldona | last3=Chodorowska | first3=Grażyna | last4=Filip | first4=Agata A. | last5=Petit | first5=Veronique | last6=Rudnicka | first6=Lidia | last7=Dybiec | first7=Ewa | last8=Rakowska | first8=Adriana | last9=Sobczyńska-Tomaszewska | first9=Agnieszka | last10=Kanitakis | first10=Jean | title=Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation | journal=Advances in Dermatology and Allergology | publisher=Termedia Sp. z.o.o. | volume=36 | issue=3 | year=2019 | issn=1642-395X | doi=10.5114/ada.2018.73437 | pages=358–364| pmid=31333354 | pmc=6640015 }}</ref> [[Focal dermal hypoplasia|Goltz syndrome]],<ref name="Bree Grange Hicks Goltz 2016 pp. 44–51">{{cite journal | last1=Bree | first1=Alanna F. | last2=Grange | first2=Dorothy K. | last3=Hicks | first3=M. John | last4=Goltz | first4=Robert W. | title=Dermatologic findings of focal dermal hypoplasia (Goltz syndrome) | journal=American Journal of Medical Genetics Part C: Seminars in Medical Genetics | publisher=Wiley | volume=172 | issue=1 | date=2016-02-09 | issn=1552-4868 | doi=10.1002/ajmg.c.31472 | pages=44–51| pmid=26858134 }}</ref> [[hidrotic ectodermal dysplasia]],<ref name="Kantaputra Intachai Kawasaki Ohazama 2020 p. ">{{cite journal | last1=Kantaputra | first1=Piranit | last2=Intachai | first2=Worrachet | last3=Kawasaki | first3=Katsushige | last4=Ohazama | first4=Atsushi | last5=Carlson | first5=Bruce | last6=Quarto | first6=Natalina | last7=Pruksachatkun | first7=Chulabhorn | last8=Chuamanochan | first8=Mati | title=Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma | journal=The Journal of Dermatology | publisher=Wiley | volume=47 | issue=6 | date=2020-03-27 | pages=e230–e232 | issn=0385-2407 | doi=10.1111/1346-8138.15333 | pmid=32220018 | hdl=2027.42/155882 | hdl-access=free }}</ref><ref name="Hirano Mason Salkey Williams 2011 pp. 414–420">{{cite journal | last1=Hirano | first1=Stefanie A. | last2=Mason | first2=Ashley R. | last3=Salkey | first3=Kimberly | last4=Williams | first4=Judith V. | last5=Pariser | first5=David M. | title=Light Microscopic Hair Shaft Analysis in Ectodermal Dysplasia Syndromes | journal=Pediatric Dermatology | publisher=Wiley | volume=29 | issue=4 | date=2011-11-16 | issn=0736-8046 | doi=10.1111/j.1525-1470.2011.01606.x | pages=414–420| pmid=22084904 }}</ref> [[hypohidrotic ectodermal dysplasia]],<ref name="Hypohidrotic Ectodermal Dysplasia" /> hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome,<ref name="Hoeger Kinsler Yan Harper 2019 p. 2"/> [[Oculodentodigital dysplasia|oculo-dento-digital syndrome]],<ref name="THODÉN RYÖPPY KUITUNEN 1977 pp. 635–638">{{cite journal | last1=THODÉN | first1=C.-J. | last2=RYÖPPY | first2=S. | last3=KUITUNEN | first3=P. | title=OCULODENTODIGITAL DYSPLASIA SYNDROME Report of Four Cases | journal=Acta Paediatrica | publisher=Wiley | volume=66 | issue=5 | year=1977 | issn=0803-5253 | doi=10.1111/j.1651-2227.1977.tb07960.x | pages=635–638| pmid=197779 }}</ref> [[pachyonychia congenita]]-2,<ref name="Leachman Kaspar Fleckman Florell 2005 pp. 3–17">{{cite journal | last1=Leachman | first1=Sancy A. | last2=Kaspar | first2=Roger L. | last3=Fleckman | first3=Philip | last4=Florell | first4=Scott R. | last5=Smith | first5=Frances J.D. | last6=McLean | first6=W.H. Irwin | last7=Lunny | first7=Declan P. | last8=Milstone | first8=Leonard M. | last9=van Steensel | first9=Maurice A.M. | last10=Munro | first10=Colin S. | last11=O'Toole | first11=Edel A. | last12=Celebi | first12=Julide T. | last13=Kansky | first13=Aleksej | last14=Lane | first14=EBirgitte | title=Clinical and Pathological Features of Pachyonychia Congenita | journal=Journal of Investigative Dermatology Symposium Proceedings | publisher=Elsevier BV | volume=10 | issue=1 | year=2005 | issn=1087-0024 | doi=10.1111/j.1087-0024.2005.10202.x | pages=3–17| pmid=16250204 | doi-access=free }}</ref><ref name="Munro 2001 pp. 929–930">{{cite journal | last=Munro | first=C.S. | title=Pachyonychia congenita: mutations and clinical presentations | journal=British Journal of Dermatology | publisher=Oxford University Press (OUP) | volume=144 | issue=5 | year=2001 | issn=0007-0963 | doi=10.1046/j.1365-2133.2001.04216.x | pages=929–930| pmid=11359376 }}</ref> [[Rapp–Hodgkin syndrome|Rapp-Hodgkin syndrome]],<ref name="Silengo Davi Bianco Costa 1982 pp. 297–300">{{cite journal | last1=Silengo | first1=M. Cirillo | last2=Davi | first2=G. F. | last3=Bianco | first3=R. | last4=Costa | first4=M. | last5=DeMarco | first5=A. | last6=Ve | first6=R. | last7=Franceschini | first7=P. | title=Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome | journal=Clinical Genetics | publisher=Wiley | volume=21 | issue=5 | year=1982 | issn=0009-9163 | doi=10.1111/j.1399-0004.1982.tb01375.x | pages=297–300| pmid=7116674 }}</ref> [[Hereditary leiomyomatosis and renal cell cancer syndrome|Reeds syndrome]],<ref name="REEDS">{{cite journal |last1=Reed |first1=W B |last2=Brown |first2=A C |last3=Sugarman |first3=G I |last4=Schlesinger |first4=L |title=The REEDS syndrome |journal=Birth Defects Original Article Series |date=1974 |volume=10 |issue=5 |pages=61–73 |pmid=4220009}}</ref> Salamon syndrome,<ref name="Feature of Numerous"/> [[Schöpf–Schulz–Passarge syndrome|Schöpf-Schulz-Passarge syndrome]],<ref name="Szepetiuk Vanhooteghem Muller Stene 2009 pp. 517–518">{{cite journal | last1=Szepetiuk | first1=Grégory | last2=Vanhooteghem | first2=Olivier | last3=Muller | first3=Gebhard | last4=Stene | first4=Jean Jacques | last5=Nikkels | first5=Arjen F | title=Schöpf-Schulz-Passarge syndrome with pili torti: a new association? | journal=European Journal of Dermatology | publisher=John Libbey Eurotext | volume=19 | issue=5 | year=2009 | issn=1167-1122 | doi=10.1684/ejd.2009.0743 | pages=517–518| pmid=19527991 }}</ref> and trichodysplasia-xeroderma.<ref name="Pinheiro Freire‐Maia 1987 pp. 337–342">{{cite journal | last1=Pinheiro | first1=M. | last2=Freire-Maia | first2=N. | title=Trichodysplasia-xeroderma: an autosomal dominant condition | journal=Clinical Genetics | publisher=Wiley | volume=31 | issue=5 | year=1987 | issn=0009-9163 | doi=10.1111/j.1399-0004.1987.tb02818.x | pages=337–342| pmid=3608221 }}</ref>

Conditions associated with acquired pili torti include [[Lichen planus|lichen planopilaris]], [[frontal fibrosing alopecia]],<ref name="Primary Cicatricial Alopecias">{{cite journal | last1=Karadag Köse | first1=Özlem | last2=Güleç | first2=A. Tülin | title=Evaluation of a Handheld Dermatoscope in Clinical Diagnosis of Primary Cicatricial Alopecias | journal=Dermatology and Therapy | publisher=Springer Science and Business Media LLC | volume=9 | issue=3 | date=2019-06-12 | issn=2193-8210 | doi=10.1007/s13555-019-0304-3 | pages=525–535| pmid=31190216 | pmc=6704216 }}</ref> [[alopecia areata]],<ref name="Park Kim Kim Yun 2015 p. 539">{{cite journal | last1=Park | first1=Jin | last2=Kim | first2=Joo-Ik | last3=Kim | first3=Han-Uk | last4=Yun | first4=Seok-Kweon | last5=Kim | first5=Seong-Jin | title=Trichoscopic Findings of Hair Loss in Koreans | journal=Annals of Dermatology | publisher=Korean Dermatological Association and The Korean Society for Investigative Dermatology | volume=27 | issue=5 | year=2015 | pages=539–550 | issn=1013-9087 | doi=10.5021/ad.2015.27.5.539 | pmid=26512168 | pmc=4622888 }}</ref> [[central centrifugal cicatricial alopecia]],<ref name="Journal of the American Academy of Dermatology 2019 p. AB179">{{cite journal | title=Central centrifugal cicatricial alopecia in Asian scalp: Beyond boundaries and race | journal=Journal of the American Academy of Dermatology | volume=81 | issue=4 | date=2019 | doi=10.1016/j.jaad.2019.06.668 | page=AB179}}</ref> [[discoid lupus erythematosus]],<ref name="Gómez-Quispe Elena de las Heras-Alonso Lobato-Berezo Velasco-Tamariz 2021 pp. 804–806">{{cite journal | last1=Gómez-Quispe | first1=Heidy | last2=Elena de las Heras-Alonso | first2=María | last3=Lobato-Berezo | first3=Alejandro | last4=Velasco-Tamariz | first4=Virginia | last5=Pindado-Ortega | first5=Cristina | last6=Moreno-Arrones | first6=Oscar Muñoz | last7=Vañó-Galván | first7=Sergio | last8=Saceda-Corralo | first8=David | title=Trichoscopic findings of discoid lupus erythematosus alopecia: A cross-sectional study | journal=Journal of the American Academy of Dermatology | publisher=Elsevier BV | volume=84 | issue=3 | year=2021 | issn=0190-9622 | doi=10.1016/j.jaad.2020.05.144 | pages=804–806| pmid=32502590 }}</ref> [[Dissecting cellulitis of the scalp|dissecting cellulitis]], [[folliculitis decalvans]], [[pseudopelade of Brocq]],<ref name="Primary Cicatricial Alopecias"/> [[traction alopecia]],<ref name="Karadağ KöSe Borlu 2019 pp. 7–14">{{cite journal | last1=Karadağ KöSe | first1=Özlem | last2=Borlu | first2=Murat | title=Evaluation of Trichoscopic Findings of Tractional Alopecia | journal=Turkiye Klinikleri Journal of Dermatology | volume=29 | issue=1 | date=2019 | issn=1300-0330 | doi=10.5336/dermato.2019-64693 | pages=7–14| doi-access=free }}</ref> [[linear scleroderma]] en coup de sabre,<ref name="Montoya Calvache 2024 p. ">{{cite journal | last1=Montoya | first1=Claudia Liliana | last2=Calvache | first2=Natalia | title=Linear Morphea Alopecia: New Trichoscopy Findings | journal=International Journal of Trichology | publisher=Wolters Kluwer -- Medknow Publications | volume=9 | issue=2 | date=2024-03-14 | pages=92–93 | pmid=28839399 | doi=10.4103/ijt.ijt_34_17 | doi-access=free | pmc=5551318 }}</ref><ref name="Saceda-Corralo Tosti 2017 pp. 31–33">{{cite journal | last1=Saceda-Corralo | first1=David | last2=Tosti | first2=Antonella | title=Trichoscopic Features of Linear Morphea on the Scalp | journal=Skin Appendage Disorders | publisher=S. Karger AG | volume=4 | issue=1 | date=2017-07-12 | issn=2296-9195 | doi=10.1159/000478022 | pages=31–33| pmid=29457011 | pmc=5806185 }}</ref> repetitive trauma,<ref name="Trichoscopy" /> scalp [[metastasis]] of [[breast cancer]],<ref name="Feature of Numerous" /> [[cutaneous T-cell lymphoma]],<ref name="Rakowska Jasińska Sikora Czuwara 2021 p. ">{{cite journal | last1=Rakowska | first1=Adriana | last2=Jasińska | first2=Magdalena | last3=Sikora | first3=Mariusz | last4=Czuwara | first4=Joanna | last5=Gajda-Mróz | first5=Patrycja | last6=Warszawik-Hendzel | first6=Olga | last7=Kwiatkowska | first7=Małgorzata | last8=Waśkiel-Burnat | first8=Anna | last9=Olszewska | first9=Małgorzata | last10=Rudnicka | first10=Lidia | title=Cutaneous T-cell lymphoma in erythrodermic cases may be suspected on the basis of scalp examination with dermoscopy | journal=Scientific Reports | publisher=Springer Science and Business Media LLC | volume=11 | issue=1 | date=2021-01-11 | issn=2045-2322 | doi=10.1038/s41598-020-78233-1 | page=282| pmid=33431905 | bibcode=2021NatSR..11..282R | pmc=7801426 }}</ref> [[Acne conglobata|acne conglobate]],<ref name="cataracts">{{cite journal | last1=Gold | first1=S.C. | last2=Delaney | first2=T.J. | title=(11) Familial acne conglobata, hidradenitis suppurativa, pili torti and cataracts* | journal=British Journal of Dermatology | volume=91 | issue=s10 | date=1974 | issn=0007-0963 | doi=10.1111/j.1365-2133.1974.tb12514.x | pages=54–57}}</ref> [[anorexia nervosa]],<ref name="Strumia Borghi Colombo Manzato 2005 pp. 349–350">{{cite journal | last1=Strumia | first1=R. | last2=Borghi | first2=A. | last3=Colombo | first3=E. | last4=Manzato | first4=E. | last5=Gualandi | first5=M. | title=Low prevalence of twisted hair in anorexia nervosa | journal=Clinical and Experimental Dermatology | publisher=Oxford University Press (OUP) | volume=30 | issue=4 | year=2005 | issn=0307-6938 | doi=10.1111/j.1365-2230.2005.01745.x | pages=349–350| pmid=15953065 }}</ref> [[Graft-versus-host disease|graft-vs.-host disease]],<ref name="Penzi Saavedra Senna 2018 pp. 44–46">{{cite journal | last1=Penzi | first1=Lauren R. | last2=Saavedra | first2=Arturo | last3=Senna | first3=Maryanne M. | title=Long-standing pili torti in 2 patients with chronic graft-vs-host disease | journal=JAAD Case Reports | publisher=Elsevier BV | volume=4 | issue=1 | year=2018 | issn=2352-5126 | doi=10.1016/j.jdcr.2017.10.020 | pages=44–46| pmid=29296651 | pmc=5738549 }}</ref> [[hair transplantation]],<ref name="Trichoscopy" /> [[malnutrition]],<ref name="Evans Hastings Kaffenberger 2019 p. 488">{{cite journal | last1=Evans | first1=J. Brady | last2=Hastings | first2=Justin G. | last3=Kaffenberger | first3=Benjamin H. | title=Acquired Pili Torti | journal=JAMA Dermatology | publisher=American Medical Association (AMA) | volume=155 | issue=4 | date=2019-04-01 | issn=2168-6068 | doi=10.1001/jamadermatol.2018.4677 | page=488| pmid=30810707 }}</ref> [[Systemic scleroderma|systemic sclerosis]],<ref name="congenital and acquired" /> and [[Cataract|cataracts]].<ref name="cataracts"/>

Drugs related to pili torti include [[epidermal growth factor receptor]] inhibitors,<ref name="Kremer Martinez Leshem Hodak 2021 pp. 1178–1184">{{cite journal | last1=Kremer | first1=Noa | last2=Martinez | first2=Helena | last3=Leshem | first3=Yael Anne | last4=Hodak | first4=Emmilia | last5=Zer | first5=Alona | last6=Brenner | first6=Baruch | last7=Amitay-Laish | first7=Iris | title=The trichoscopic features of hair shaft anomalies induced by epidermal growth factor receptor inhibitors: A case series | journal=Journal of the American Academy of Dermatology | publisher=Elsevier BV | volume=85 | issue=5 | year=2021 | issn=0190-9622 | doi=10.1016/j.jaad.2020.03.055 | pages=1178–1184| pmid=32244022 }}</ref><ref name="Pirmez Piñeiro-Maceira Gonzalez Miteva 2016 p. 186">{{cite journal | last1=Pirmez | first1=Rodrigo | last2=Piñeiro-Maceira | first2=Juan | last3=Gonzalez | first3=CarmenGloria | last4=Miteva | first4=Mariya | title=Loose anchoring of anagen hairs and pili torti due to erlotinib | journal=International Journal of Trichology | publisher=Medknow | volume=8 | issue=4 | year=2016 | pages=186–187 | issn=0974-7753 | doi=10.4103/ijt.ijt_16_16 | doi-access=free | pmid=28442878 | pmc=5387882 }}</ref> oral [[Retinoid|retinoids]],<ref name="synthetic retinoids">{{cite journal |last1=Hays |first1=S B |last2=Camisa |first2=C |title=Acquired pili torti in two patients treated with synthetic retinoids |journal=Cutis |date=May 1985 |volume=35 |issue=5 |pages=466–468 |pmid=3859397}}</ref> [[sodium valproate]],<ref name="Kakunje Prabhu Sindhu Priya Karkal 2018 p. 150">{{cite journal | last1=Kakunje | first1=Anil | last2=Prabhu | first2=Ashwini | last3=Sindhu Priya | first3=ES | last4=Karkal | first4=Ravichandra | last5=Kumar | first5=Parmod | last6=Gupta | first6=Nitin | last7=Rahyanath | first7=PK | title=Valproate: It's effects on hair | journal=International Journal of Trichology | publisher=Medknow | volume=10 | issue=4 | year=2018 | pages=150–153 | issn=0974-7753 | doi=10.4103/ijt.ijt_10_18 | doi-access=free | pmid=30386073 | pmc=6192236 }}</ref> and carbamide perhydrate.<ref name="Bolck Ziegler Sieler 1977 pp. 214–215">{{cite journal | last1=Bolck | first1=F. | last2=Ziegler | first2=V. | last3=Sieler | first3=H. | title=Bleaching of hair by carbamide per hydrate | journal=Contact Dermatitis | publisher=Wiley | volume=3 | issue=4 | year=1977 | issn=0105-1873 | doi=10.1111/j.1600-0536.1977.tb03655.x | pages=214–215| pmid=597388 }}</ref>

== Mechanism ==
Uneven growth of the outer root sheath cells is the source of hair twisting in hereditary forms.<ref name="Feature of Numerous"/> The hair shaft and inner root sheath are unevenly molded as a result of cell vacuolation and unequal outer root sheath thickness at the suprabulbar region.<ref name="morphological study">{{cite journal | last1=Maruyama | first1=Tomohiro | last2=Toyoda | first2=Masahiko | last3=Kanei | first3=Akihiro | last4=Morohashi | first4=Masaaki | title=Pathogenesis in pili torti: morphological study | journal=Journal of Dermatological Science | publisher=Elsevier BV | volume=7 | year=1994 | issn=0923-1811 | doi=10.1016/0923-1811(94)90029-9 | pages=S5–S12| pmid=7528051 }}</ref> In acquired forms, the hair follicle is deformed and rotational forces are generated by a perifollicular inflammation followed by [[fibrosis]].<ref name="Disorders of Hair Growth">{{cite book |last1=Olsen |first1=Elise A. |title=Disorders of Hair Growth |date=2003 |publisher=McGraw-Hill |location=New York, NY, USA |isbn=978-0-07-136494-2 |pages=123–175 |edition=2 |url=https://books.google.com/books?id=u_VsAAAAMAAJ |access-date=24 March 2024}}</ref>

== Diagnosis ==
Examination under a [[microscope]] and [[Trichoscopy|trichoscope]] is used to diagnose pili torti. Low magnification [[trichoscopy]] in pili torti reveals the hair shafts bent at random intervals and at varied angles. At high magnification, the hair shaft's regular twists along its long axis are visible.<ref name="Feature of Numerous" /> Upon microscopic inspection, the shaft exhibits irregularly spaced clusters of three or four twists at random intervals.<ref name="genetic hair shaft" />

=== Classification ===
Pili torti can be aqquired or inherited.<ref name="Feature of Numerous"/> There are three types of inherited pili torti: classic early onset (Ronchese type), late onset (Beare type), and pili torti linked to hereditary illnesses or disorders.<ref name="Atlas of Trichoscopy"/> Acquired pili torti may result from medication side effects or be linked to a variety of systemic and dermatological disorders.<ref name="Feature of Numerous" />

== Treatment ==
Pili torti does not have a specific treatment. It is advised to keep the hair from suffering damage. Additional techniques of care include dyeing, braiding, heat treatments, avoiding over-grooming, and sleeping on a satin pillowcase.<ref name="Feature of Numerous" /> Shampoos that are gentle might be helpful.<ref name="Gelles 1999 p. 647">{{cite journal | last=Gelles | first=Lisa N. | title=Picture of the Month | journal=Archives of Pediatrics & Adolescent Medicine | publisher=American Medical Association (AMA) | volume=153 | issue=6 | date=1999-06-01 | pages=647–648 | issn=1072-4710 | doi=10.1001/archpedi.153.6.647 | pmid=10357309 }}</ref><ref name="Kremer Martinez Leshem Hodak 2021 pp. 1178–1184"/>

After puberty, congenital pili torti may heal on their own.<ref name="Feature of Numerous" /> Drug-induced instances usually go away as the offending substance is stopped.<ref name="Pirmez Piñeiro-Maceira Gonzalez Miteva 2016 p. 186"/><ref name="synthetic retinoids"/> The most crucial aspect of treating acquired pili torti is treating the underlying ailment.<ref name="Feature of Numerous" />

The use of pharmaceuticals to treat pili torti has minimal efficacy.<ref name="McMichael Hordinsky 2018 p. 8" /> Topical [[minoxidil]] has been proposed as a good therapeutic alternative for individuals with higher fragility in their hair shaft abnormalities. Nevertheless, it does not cause a causative treatment; rather, it solely affects hair density.<ref name="Feature of Numerous" />

== History ==
In 1932, Ronchese and Galewsky separately published the first descriptions of pili torti, also referred to as "twisted hair."<ref name="Ronchese 1932">{{cite journal | last=Ronchese | first=F. | title=Twisted Hairs (Pili Torti) | journal=Archives of Dermatology | volume=26 | issue=1 | date=1932-07-01 | issn=0003-987X | doi=10.1001/archderm.1932.01450030101015 | page=98}}</ref><ref name="Atlas of Trichoscopy">{{cite book | last1=Rudnicka | first1=L. | last2=Olszewska | first2=M. | last3=Rakowska | first3=A. | title=Atlas of Trichoscopy: Dermoscopy in Hair and Scalp Disease | publisher=Springer London | year=2012 | isbn=978-1-4471-4486-1 |url=https://books.google.com/books?id=oNdm2o19jG0C&pg=PR3 | access-date=2024-03-24 | page=167}}</ref>

⚫
== See also ==
* [[List of cutaneous conditions]]
* [[List of cutaneous conditions]]
* [[Crandall syndrome]]
* [[Crandall syndrome]]


==References==
== References ==
{{reflist}}
{{reflist}}

== Further reading ==
* {{cite journal | last1=Sakamoto | first1=Fumiko | last2=Ito | first2=Masaaki | last3=Saito | first3=Ryuzo | title=Ultrastructural Study of Acquired Pili Torti-like Hair Defects Accompanying Pseudopelade | journal=The Journal of Dermatology | volume=29 | issue=4 | date=2002 | issn=0385-2407 | doi=10.1111/j.1346-8138.2002.tb00249.x | pages=197–201 | pmid=12027083 | ref=none}}
* {{cite journal | last1=Marubashi | first1=Yuki | last2=Yanagishita | first2=Takeshi | last3=Muto | first3=Jun | last4=Taguchi | first4=Nobuhiko | last5=Sugiura | first5=Kazumitsu | last6=Kawamoto | first6=Yoshiyuki | last7=Akiyama | first7=Masashi | last8=Watanabe | first8=Daisuke | title=Morphological analyses in fragility of pili torti with Björnstad syndrome | journal=The Journal of Dermatology | publisher=Wiley | volume=44 | issue=4 | date=2016-11-24 | issn=0385-2407 | doi=10.1111/1346-8138.13700 | pages=455–458 | pmid=27882597 | ref=none}}

== External links ==
* [https://www.visualdx.com/visualdx/diagnosis/congenital+pili+torti?diagnosisId=52167&moduleId=46 VisualDx]
* [https://www.uptodate.com/contents/hair-shaft-disorders Hair shaft disorders] - [[UpToDate]]

{{Medical resources
| ICD11 = {{ICD11|EC21.0}}
⚫
| ICD10 = {{ICD10|Q84.1}}
| ICD10CM = <!-- {{ICD10CM|Xxx.xxxx}} -->
| ICD9 = <!-- {{ICD9|xxx}} -->
| ICDO =
| OMIM = 261900
| MeshID = C562485
| DiseasesDB = 29682
| SNOMED CT = 17170005
| Curlie =
| MedlinePlus =
| eMedicineSubj =
| eMedicineTopic =
| PatientUK =
| NCI =
| GeneReviewsNBK =
| GeneReviewsName =
| NORD =
| GARDNum = 4361
| GARDName = Pili torti
| RP =
| AO =
| WO =
| OrthoInfo =
| Orphanet = 2889
| Scholia = Q7193994
| OB =
}}


{{Congenital malformations and deformations of skin appendages}}
{{Congenital malformations and deformations of skin appendages}}
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[[Category:Human hair]]
[[Category:Human hair]]
[[Category:Hair diseases]]
[[Category:Hair diseases]]


{{skin-appendage-stub}}

Latest revision as of 14:50, 2 October 2024

Pili torti
Menkes disease
SpecialtyMedical genetics Edit this on Wikidata

Pili torti (singular pilus tortus; also known as "twisted hairs") is characterized by short and brittle hairs that appear flattened and twisted when viewed through a microscope.[1]: 638 [2]: 764 [3]

Pili torti can be acquired or inherited. Many different genetic syndromes such as Björnstad syndrome and Menkes disease can cause pili torti. Different ectodermal dysplasias like Rapp-Hodgkin syndrome and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome can also cause pili torti. Acquired pili torti can be associated with different dermatological conditions or medications. Pili torti is often associated with cicatricial alopecia including lichen planopilaris, frontal fibrosing alopecia, and discoid lupus erythematosus. Epidermal growth factor receptor inhibitors, oral retinoids, sodium valproate, and carbamide perhydrate have been known to induce pili torti.

The diagnosis of pili torti is made via trichoscopic and microscopic inspection. Pili torti does not have any specific treatment.

Signs and symptoms

[edit]

Clinically, the hair of individuals with pili torti is dry, coarse, brittle, and fragile. It could lead to patchy alopecia.[4] The most common area affected is the scalp, particularly the occipital and temporal regions. But the eyelashes, pubic hair, axilla, and eyebrows could also be affected.[5] Typically, pili torti just impact a portion of the hair and do not alter the entire length of the hair.[6] Occasionally, isolated pili torti might be discovered in a typical scalp. But it could be connected to a lot of regional and systemic issues.[7]

Causes

[edit]

Pili torti can be aqquired or inherited.[4] There are three types of inherited pili torti: classic early onset (Ronchese type), late onset (Beare type), and pili torti linked to hereditary illnesses or disorders.[8]

Starting in early life, the classic (Ronchese) type is an autosomal dominant or recessive disease. The third month to the third year of life is when the sickness first manifests. Blond girls are more frequently impacted. Hair twist clusters are typically seen in early-onset pili torti. With age, the disease frequently gets better, especially after puberty.[8][9]

Usually manifesting after puberty, late onset type is an autosomal dominant condition. People with dark hair seem to experience it more frequently. The hair twists in the late onset form are typically solitary, in contrast to the early onset kind.[8][9]

Pili torti can also be associated with other genetic conditions such as abnormal hair, joint laxity, and developmental delay,[10][11] acrofacial dysostosis, Palagonia type,[12] argininosuccinic aciduria,[13] autosomal recessive ichthyosis with hypotrichosis,[14] Bazex-Dupre-Christol syndrome,[15] Björnstad syndrome,[16][17] citrullinemia,[18] congenital disorder of glycosylation, type Ia,[19] congenital erythropoietic porphyria,[20] congenital hypotrichosis with juvenile macular dystrophy,[21] Conradi-Hünermann syndrome,[22] Crandall syndrome,[23] giant axonal neuropathy,[24] hypotrichosis 6,[25][26] Laron syndrome,[27] Marie Unna hypotrichosis,[28] McCune–Albright syndrome,[29] Menkes disease,[30] mitochondrial diseases,[31] Netherton syndrome,[32][33] occipital horn syndrome,[34] Olmsted syndrome,[35] peeling skin syndrome,[36] Salti-Salem syndrome,[37] steatocystoma multiplex,[38] tricho-hepato-enteric syndrome,[39] and trichothiodystrophy, photosensitive.[40][41]

A diverse range of hereditary diseases known as ectodermal dysplasias are defined by birth abnormalities in one or more ectodermal structures and associated appendages, such as the hair, teeth, nails, and sweat glands.[42] There have been reports of pili torti in several ectodermal dysplasias, including ectodermal dysplasia with syndactyly,[21] ankyloblepharon-ectodermal defects-cleft lip and palate syndrome,[43] Basan syndrome,[4] cleft lip/palate-ectodermal dysplasia syndrome,[21] ectodermal dysplasia 4, hair/nail type,[44] ectodermal dysplasia with corkscrew hairs,[45] ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3,[46] Goltz syndrome,[47] hidrotic ectodermal dysplasia,[48][49] hypohidrotic ectodermal dysplasia,[7] hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome,[21] oculo-dento-digital syndrome,[50] pachyonychia congenita-2,[51][52] Rapp-Hodgkin syndrome,[53] Reeds syndrome,[54] Salamon syndrome,[4] Schöpf-Schulz-Passarge syndrome,[55] and trichodysplasia-xeroderma.[56]

Conditions associated with acquired pili torti include lichen planopilaris, frontal fibrosing alopecia,[57] alopecia areata,[58] central centrifugal cicatricial alopecia,[59] discoid lupus erythematosus,[60] dissecting cellulitis, folliculitis decalvans, pseudopelade of Brocq,[57] traction alopecia,[61] linear scleroderma en coup de sabre,[62][63] repetitive trauma,[5] scalp metastasis of breast cancer,[4] cutaneous T-cell lymphoma,[64] acne conglobate,[65] anorexia nervosa,[66] graft-vs.-host disease,[67] hair transplantation,[5] malnutrition,[68] systemic sclerosis,[20] and cataracts.[65]

Drugs related to pili torti include epidermal growth factor receptor inhibitors,[69][70] oral retinoids,[71] sodium valproate,[72] and carbamide perhydrate.[73]

Mechanism

[edit]

Uneven growth of the outer root sheath cells is the source of hair twisting in hereditary forms.[4] The hair shaft and inner root sheath are unevenly molded as a result of cell vacuolation and unequal outer root sheath thickness at the suprabulbar region.[74] In acquired forms, the hair follicle is deformed and rotational forces are generated by a perifollicular inflammation followed by fibrosis.[75]

Diagnosis

[edit]

Examination under a microscope and trichoscope is used to diagnose pili torti. Low magnification trichoscopy in pili torti reveals the hair shafts bent at random intervals and at varied angles. At high magnification, the hair shaft's regular twists along its long axis are visible.[4] Upon microscopic inspection, the shaft exhibits irregularly spaced clusters of three or four twists at random intervals.[6]

Classification

[edit]

Pili torti can be aqquired or inherited.[4] There are three types of inherited pili torti: classic early onset (Ronchese type), late onset (Beare type), and pili torti linked to hereditary illnesses or disorders.[8] Acquired pili torti may result from medication side effects or be linked to a variety of systemic and dermatological disorders.[4]

Treatment

[edit]

Pili torti does not have a specific treatment. It is advised to keep the hair from suffering damage. Additional techniques of care include dyeing, braiding, heat treatments, avoiding over-grooming, and sleeping on a satin pillowcase.[4] Shampoos that are gentle might be helpful.[76][69]

After puberty, congenital pili torti may heal on their own.[4] Drug-induced instances usually go away as the offending substance is stopped.[70][71] The most crucial aspect of treating acquired pili torti is treating the underlying ailment.[4]

The use of pharmaceuticals to treat pili torti has minimal efficacy.[22] Topical minoxidil has been proposed as a good therapeutic alternative for individuals with higher fragility in their hair shaft abnormalities. Nevertheless, it does not cause a causative treatment; rather, it solely affects hair density.[4]

History

[edit]

In 1932, Ronchese and Galewsky separately published the first descriptions of pili torti, also referred to as "twisted hair."[77][8]

See also

[edit]

References

[edit]
  1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  4. ^ a b c d e f g h i j k l m Hoffmann, Aleksandra; Waśkiel-Burnat, Anna; Żółkiewicz, Jakub; Blicharz, Leszek; Rakowska, Adriana; Goldust, Mohamad; Olszewska, Małgorzata; Rudnicka, Lidia (2021-08-30). "Pili Torti: A Feature of Numerous Congenital and Acquired Conditions". Journal of Clinical Medicine. 10 (17). MDPI AG: 3901. doi:10.3390/jcm10173901. ISSN 2077-0383. PMC 8432236. PMID 34501349.
  5. ^ a b c Rudnicka, Lidia; Olszewska, Małgorzata; Waśkiel, Anna; Rakowska, Adriana (2018). "Trichoscopy in Hair Shaft Disorders". Dermatologic Clinics. 36 (4). Elsevier BV: 421–430. doi:10.1016/j.det.2018.05.009. ISSN 0733-8635. PMID 30201151.
  6. ^ a b Rakowska, Adriana; Slowinska, Monika; Kowalska-Oledzka, Elzbieta; Rudnicka, Lidia (2008-07-07). "Trichoscopy in genetic hair shaft abnormalities". Journal of Dermatological Case Reports. 2 (2). Specjalisci Dermatolodzy: 14–20. doi:10.3315/jdcr.2008.1009. ISSN 1898-7249. PMC 3157768. PMID 21886705.
  7. ^ a b Rouse, Christopher; Siegfried, Elaine; Breer, Wayne; Nahass, George (2004-07-01). "Hair and Sweat Glands in Families With Hypohidrotic Ectodermal Dysplasia". Archives of Dermatology. 140 (7). American Medical Association (AMA): 850–855. doi:10.1001/archderm.140.7.850. ISSN 0003-987X. PMID 15262696.
  8. ^ a b c d e Rudnicka, L.; Olszewska, M.; Rakowska, A. (2012). Atlas of Trichoscopy: Dermoscopy in Hair and Scalp Disease. Springer London. p. 167. ISBN 978-1-4471-4486-1. Retrieved 2024-03-24.
  9. ^ a b Rogers, Maureen (1995). "Hair shaft abnormalities: Part I". Australasian Journal of Dermatology. 36 (4). Wiley: 179–184. doi:10.1111/j.1440-0960.1995.tb00969.x. ISSN 0004-8380. PMID 8593104.
  10. ^ Shapira, S K; Neish, A S; Pober, B R (2024-03-14). "Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities". Journal of Medical Genetics. 29 (7). BMJ Publishing Group: 509–510. PMC 1016033. PMID 1379303.
  11. ^ Sharma, Prashant; Reichert, Marie; Lu, Yan; Markello, Thomas C.; Adams, David R.; Steinbach, Peter J.; Fuqua, Brie K.; Parisi, Xenia; Kaler, Stephen G.; Vulpe, Christopher D.; Anderson, Gregory J.; Gahl, William A.; Malicdan, May Christine V. (2019-05-24). "Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype". PLOS Genetics. 15 (5). Public Library of Science (PLoS): e1008143. doi:10.1371/journal.pgen.1008143. ISSN 1553-7404. PMC 6534290. PMID 31125343.
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Further reading

[edit]
  • Sakamoto, Fumiko; Ito, Masaaki; Saito, Ryuzo (2002). "Ultrastructural Study of Acquired Pili Torti-like Hair Defects Accompanying Pseudopelade". The Journal of Dermatology. 29 (4): 197–201. doi:10.1111/j.1346-8138.2002.tb00249.x. ISSN 0385-2407. PMID 12027083.
  • Marubashi, Yuki; Yanagishita, Takeshi; Muto, Jun; Taguchi, Nobuhiko; Sugiura, Kazumitsu; Kawamoto, Yoshiyuki; Akiyama, Masashi; Watanabe, Daisuke (2016-11-24). "Morphological analyses in fragility of pili torti with Björnstad syndrome". The Journal of Dermatology. 44 (4). Wiley: 455–458. doi:10.1111/1346-8138.13700. ISSN 0385-2407. PMID 27882597.
[edit]
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