Melkersson-Rosenthal syndrome revisited as a misdiagnosed

disease
Ozan Bagis Ozgursoy, MD⁎, Selmin Karatayli Ozgursoy, MD, Ozden Tulunay,
MD,
Ozgur Kemal, MD, Aynur Akyol, MD, Gursel Dursun, MD
Ankara University Faculty of Medicine
Received 22 November 2007

Melkersson-Rosenthal syndrome (MRS) is a rare, noncaseating

granulomatous disease that is characterized by a
triad of facial paralysis, orofacial edema, and lingua plicata
(scrotal tongue, or fissured or furrowed tongue). The classic
triad of MRS is not frequently seen in its complete form,
whereas oligosymptomatic forms are more common [1-4].
The etiology and the mechanism of the disease are still
not known; however, infectious diseases, genetic causes,
allergy, and benign lymphogranulomatosis have been
implicated as possible causes of the syndrome [5-7].
Characteristic histopathological features of MRS are
lymphoedema, noncaseating epitheloid cell granulomas,
multinucleated Langhans-type giant cells, perivascular
mononuclear inflammatory infiltration, and fibrosis [7].
Identification of these features can be difficult, but their
absence does not exclude the diagnosis [8,9].

Melkersson-Rosenthal syndrome is a rare disorder that is

seen more commonly in Europe than America, yet it is
unclear whether this is an artifact [2,13,14]. The etiology of
MRS is still unknown, although genetic factors, infectious
agents, allergic reactions to various foods and food additives,
and autoimmune diseases have all been considered in the
etiology of MRS [2-4,10,11,15-17]. Several reports of
familial occurrence have supported the theory of genetic
origin [5,18,19].
The diagnosis of MRS is often difficult because the
presence of the complete triad of symptoms is reported in 8%
to 18% of patients [1,4]. Patients may exhibit all components
of the triad simultaneously or at different times. In a patient
with persistent or recurrent orofacial edema, the presence of
at least one of the findings of idiopathic facial paralysis or
lingua plicata is sufficient to make definitive diagnosis of
MRS [2,4,10,11]. The most dominant manifestation of MRS
is facial edema, which is acute, diffuse, painless, nonpitting,
and mostly confined to the lips [1,3,4,10,15]. The upper lip is
affected more frequently, and the edema tends to be recurrent
and lasts from hours to several weeks [7,20]. It usually
mimics angioedema; however, it is more persistent than
angioedema, and it does not respond to antihistamines and
can lead to fibrosis of the involved tissues [21]. The classic
triad of MRS was present in the first two of our patients;
however, in the second patient, the first 5 attacks were with a
complete triad, but the last attack was without facial
paralysis. In all attacks, they have orofacial edema, which
gradually recovered after treatment.
Facial paralysis associated with MRS may occur months
to years before or after the onset of facial edema [20].
Relapses of PFP are frequent but eventually recover in most
patients, as in our 2 patients. Peripheric facial paralysis may
be unilateral or bilateral, and it may be partial or complete.
Our patients presented complete paralysis in all PFP attacks.
One of them had bilateral but not simultaneous PFP.
Lingua plicata has been accepted to be congenital in 30%
to 80% of reported patients [21]. This anomaly is present in
only 0.5% to 5% of the general population, and it is
considered as a developmental malformation [1-4,10-12,15].
All of our patients had fissured tongue, but their family
histories were noncontributory.
Temporal MRI revealed no pathological finding in our
patients with recurrent PFP, and chest x-ray was normal in all
patients. Although there is no specific radiological finding
for MRS, chest x-ray and temporal and cranial computed
tomography or MRI can be used to exclude other diseases.
The histopathological investigation of the swollen lip or
facial tissues reveal the characteristic findings, including
edema, noncaseating epitheloid cell granulomas, multinucleated
Langhans-type giant cells, perivascular mononuclear
inflammatory infiltration, and fibrosis [7]. Because
MRS is a clinical syndrome, histological evidence is not
necessary [8,9]. However, biopsy may help to diagnose MRS
and to exclude Crohn disease and sarcoidosis [21], as it did
in two of our patients.
Melkersson-Rosenthal syndrome is associated with some
other findings, including trigeminal neuralgia, paresthesias,
ocular palsies, blepharospasm, epiphora, keratitis, psychotic
episodes, and migraine [2,6,10,11,15]. In the differential
diagnosis of MRS, Crohn disease, sarcoidosis, granulomatous
blepharitis, cheilitis, contact dermatitis, facial trauma,
and Bell palsy are considered [4,11,17,22-24]. Two of our
patients had severe diarrhea in all of their attacks. However,
no pathological finding was found on colonoscopy, and
biopsies from colon and oral mucosa lacked any ulceration
or cobble stoning. The same patients also experienced
burning sensation and discharge on their eyes. The
consultant ophthalmologist noted uveal ectropion and patchy
atrophy in iris stroma for our second patient and conjunctivitis
for the third one. Sarcoidosis is not considered in any of
our patients regarding the lack of pulmonary symptoms,
normal x-rays, and nondiagnostic consultation notes.
The modality of treatment in MRS is another issue of
controversy. Facial edema may temporarily be regressed by
systemic and intralesional corticosteroids. Antihistamines,
antibiotics, salazosulfapyridine, and irradiation have been
reported to be not useful for facial edema [25,26]. Initial
choice of treatment in facial nerve paralysis should be
medical treatment [1,2,6,10,11]. However, decompression of
facial nerve throughout its bony canal may be indicated for
patients with recurrent or persistent attacks of facial paralysis
despite medical treatment [27]. Furthermore, in severe
cosmetic complaints associated with persistent excess tissue
or the appearance of upper lip, reconstructive surgery can be
the treatment of choice [20]. Corticosteroid therapy was the
initial treatment for our patients. In addition, facial
decompression was performed for our first patient, and
intralesional steroid injection was applied into the edematous
lips of the last 2 patients. Respecting the patients' data and
the literature on the subject, we got the impact that MRS
patients are not appropriate candidates for facial decompression.
Hence, we consider that corticosteroid therapy, either
systemic or intralesional, might be the current and
noninvasive treatment of choice for MRS.
In the daily practice of an otolaryngologist, it is not usual
to diagnose a patient as having MRS. Although 2 of our
patients have had the symptoms since adolescence and they
have been treated by different physicians, they could be
diagnosed as having MRS 9 and 16 years after the onset of
symptoms. Much more interpretation of the outcome from
such a small number of patients would not be expressive, but
we consider that this is partly because of misdiagnosis. We
recommend that when a patient with recurrent facial
paralysis is encountered, he/she should be examined and
questioned for recurrent or persistent orofacial edema. Also,
the reverse should be considered for a patient with recurrent
orofacial edema. Lingua plicata should be searched in both
situations. Then, when MRS is diagnosed, we recommend
consultations to dermatology, immunology, gastroenterology,
and ophthalmology to rule out other diseases with
similar symptoms and to figure out accompanying problems.
Lastly, these patients should be followed up regularly
because of the chronic progressive course of MRS.
We searched MRS in PubMed and found 140 articles
published between 1997 and 2007. However, only 7 (5%) of
them were published in otolaryngology journals. We therefore
believe that this study will supply an additional aspect to
otolaryngologists, in the scope of recurrent facial paralysis
and orofacial edema.

J Cutan Pathol 2009

doi: 10.1111/j.1600-0560.2009.01446.x
John Wiley & Sons. Printed in Singapore
Copyright 2009 John Wiley & Sons A/S

Melkersson Rosenthal
syndrome:
a histopathologic mystery
and dermatologic challenge
Melkersson Rosenthal syndrome (MRS) is rare disease of unknown
etiology characterized by orofacial edema, facial nerve palsy and
fissured tongue. Microscopically, it shows epithelioid non-caseous
granulomas; however, edema and perivascular lymphocytic infiltrates
have been described. Two different clinical forms of MRS are
presented in this report. In the complete form (Case 1), the main
histopathologic finding was a non-necrotizing granulomatous
inflammation with 56% of the total number of cells composed of B cells
(CD20+) principally located in the granuloma’s center and 33% being
T cells predominating in the surrounding area, of which 48% were
CD4+ and 16% were CD8+ lymphocytes. In the monosymptomatic
form (Case 2), the inflammatory cells were dispersed into the connective
tissue without granulomatous formation. B cells were scanty, and 78%
of the cells were CD45+ T cells, with 46% and 34%, CD8+ and CD4+
phenotype, respectively. These cases showed different clinical,
histopathological and immunohistochemical forms of MRS, suggesting
different host immune responses.
Kaminagakura E, Jorge J Jr. Melkersson Rosenthal syndrome: a
histopathologic mystery and dermatologic challenge.
J Cutan Pathol 2009. 2009 John Wiley & Sons A/S.
Estela Kaminagakura and
Jacks Jorge Jr.

The etiology of MRS remains unknown; however,

infectious factors of bacterial,4 or allergic origin,5
as well as hereditary and family factors6 can be
involved. Family predisposition, with autosomal
dominant characteristics and incomplete penetrance
has been reported.6 A possible hereditary etiology
is suggested by the fact that in Case 2, a
15-year-old daughter of the patient had had
epidodes of facial palsy, each lasting a month,
always proceeded by otalgia but without labial
or gingival edema, or fissured tongue. However,
facial palsy can occur because of direct facial nerve
granulomatous infiltration or secondary to nerve
compression by edema.7 Authors have described
MRS as a polietiological disease that has genetic or
acquired predisposition to a functional disturbance
of autonomous nervous system, associated with
granulomatous reaction from an allergic response to
an undescribed circulating antigen.1,6 However, this
hypothesis has been contradicted in other studies. 8,9
It is very hard to correlate MRS to a specific
etiologic agent and possibly it should be classified
as autoinflammatory disorder. Autoinflammatory
disorders are characterized by recurrent episodes
of inflammation in the absence of pathogens,
autoantibodies or antigen specific T cells as in
Crohn’s, or Behc¸et’s diseases and sarcoidosis. 10
Granulomatous inflammation is the main
histopathological finding in MRS; however, it isnot essential to establish a MRS diagnosis as
this
can be based upon the clinical and microscopic
characteristics.11 The tuberculoid type of granuloma
is composed of small epithelioid cells, surrounded
by lymphocytes, plasmocytes, macrophages and diffuse
edema within the interstitial connective tissue,
whereas the lymphonodular type shows a welldemarcated,
central lymphocytic nodule marginated
by plasmocytes and macrophages in the edematous
connective tissue.1 In this study, we found granulomas
of the lymphonodular plasmocyte type, without
the presence of multinucleated giant cells (Langhans
type) as described in some reports.8 The infectious
possibilities were investigated using Ziehl-Neelson
and Periodic Acid Schiff stains, which were negative
in both cases. R¨onnblom et al.12 showed that presence
of T-lymphocytes with CD4+ predominance in
MRS, can initiate a cellular immune response and
contribute to granulomatous formation. However, a
decreased CD4/CD8 ratio was reported also in a
patient with the monosymptomatic form of MRS.11
Facchetti et al.13 did not identify B lymphocytes in
granulomas of the monosymptomatic form; instead,
they were composed of CD68+ epithelioid cells and
T lymphocyte α/β receptors They observed also a
decrease in the T CD4/CD8 relationship. In our
study, in the complete form of MRS, the granulomas
were composed mainly of B lymphocytes in
the center and T-lymphocytes with CD4 phenotype
predominance were found in the periphery.
In monosymptomatic form, we observed that nongranulomatous
formation had a lower CD4/CD8
ratio. The discrepancies in our two cases may reflect
the heterogenicity of this pathology, suggesting different
host immune responses. An alternative possibility
is that the lymphocytic infiltrates without granulation
formation may represent early stages of MRS
and non-necrotizing granulomas, cases of longer
duration.3 Epithelioid granulomas and giant cells
seem to be related to an immunologic phenomenon,
especially to a hypersensitivity type IV reaction7
such as in Case 1, despite the lack of giant cells in the
granulomas.
Treatment for MRS is difficult because of
the unknown etiology.2 Case 1 was treated with
corticosteroid intralesional injections in the lip and
had a significant improvement, although without the
complete remission which has been reported in the
literature.6 Even though some authors have reported
skeleton muscle degeneration, necrosis and cicatricial
tissue formation after corticosteroid intralesional
injections,14 these were not observed in Case 1.
The patient in Case 2 had systemic corticosteroid
treatment with good results related to her lip edema.
Therewereno significant side effects.At present, both
patients are stable at 15 months and 4 years of follow
up, respectively. In cases resistant to conventional
therapy, the infliximab was recommended;2,15 it is
a chimeric monoclonal antibody that binds soluble
bioactive TNF-α and neutralizes its proinflammatory
effects.15
In summary, the complete clinical form of MRS
showed non-necrotizing granulomas with CD20+
cell predominance whereas the monosymptomatic
form did not show granulomatous formation and
had a lower CD4/CD8 ratio. Collaborative studies
with other centers to increase the number of
cases will be necessary to determine whether the
monosymptomatic form is the initial phase of MRS
or whether the different clinical manifestations truly
represent different host responses.

Otolaryngology–Head and Neck Surgery (2008) 138, 246-251

ORIGINAL RESEARCH—OTOLOGY AND NEUROTOLOGY
Melkersson-Rosenthal syndrome
Mervi Kanerva, MD, Kirsi Moilanen, MSc, Susanna Virolainen, MD,
PhD,
Antti Vaheri, MD, PhD, and Anne Pitkäranta, MD, PhD, Helsinki,
Finland
Symptoms of MRS patients treated in the two departments
varied greatly according to the specialty: FP was always
present in the patient history in depORL, while edema was
seen in depDerma patients. These findings support our hypothesis
that the existing knowledge regarding MRS is
influenced by most studies being from the departments of
dermatology and oral or plastic surgery, which treat MRS
patients troubled by edema. Most of our patients in depORL
had never visited a doctor because of edema.
This study has several shortcomings. In depORL, the
computer search yielded only MRS patients with a specific
diagnosis code. More patients might have been found under
the diagnosis of FP, but with over 300 FP diagnoses a year,
we were unable to examine most of the charts. Thus, the
actual number of MRS patients is likely greater than that
presented here. The same shortcomings apply to depDerma.
Only patients with positive histology were coded under
MRS (as is correct with monosymptomatic CG), and thus,
we missed all suspected MRS patients. The classification
may also have influenced the MRS forms found in dep-
Derma.
Two triad MRS patients in our study had acute uveitis.
To our knowledge, only one report exists of uveitis in
association with triad MRS.13 One of our two patients had
an eye operation as a predisposing factor to uveitis, but the
longstanding nature of the disease and recurrences after two
years suggest additional etiological factors. These findings
might be associated with immunologic or autoimmune disturbances,
which are considered potential etiological factors
in MRS.

MRS affects all age groups.1 In our study, the median

age at onset was 24 years, which is close to previous
findings of 25 to 40 years.3,5,14 Our female:male ratio was
2:1, in accordance with previous studies,5,14 while equal
presentation3 or male predominance6 have also been reported.
Edema was the most common initial symptom in our
study as it is in the literature.3,5,6,14 However, MRS patients
with FP had FP as the most common initial symptom, as
also described previously.1 The most common site of edema
was the upper lip, then both lips, cheeks, and tongue, in
accordance with earlier reports.3,5,6,14
FP has most commonly been estimated to appear in 20%
to 30%3-5,14,15 of all MRS cases, but reviews with 50%16 or
90%17 existences have also been published. The triad form
is found in up to 20% of all MRS cases.3-6 In our study,
combining the patients of both departments, FP was present
in 57% and the triad form in 31% of all cases. Zimmer et
al14 postulated that FP episodes in MRS are initially short,
later lasting longer or becoming permanent. That was not
the case with most of our patients, although more than half
had residual symptoms from FP. LP can be found on average
in 6% of the general population, with an increasing
prevalence with age.10 About half of the patients have had
LP in previous studies,3,5,6,14 compared to about one third in
our study.

A MRS é uma entidade rara, com uma incidência estimada em alguns estudos como algo em torno de
0.36 a 1.8:100 000 por ano. Destes, a paralisia facial era evidente entre 20 a 50% do total de casos
The rarity of the disease makes assumptions about i
difficult. Hornstein15 estimated an incidence of 80 in
100,000 per year, with MRS FP patients accounting for
25%. In a 25-year prospective study of peripheral FP etiology,
18 the incidence of MRS with FP was 0.36 in 100,000
per year, corresponding to total incidence of 0.7 to 1.8 in
100,000 per year if FP is evident in 20% to 50% of all cases.
The incidence of idiopathic peripheral FP (Bell’s palsy) is
20 to 30 in 100,000 per year18 worldwide, and in this respect
the incidence of MRS with FP in Hornstein15 (20/100,000/
year) may be excessive. In our retrospective material, the
annual incidence of MRS with FP was 0.2 in 100,000 per
year and of all cases 0.3 in 100,000 per year. We probably
missed undiagnosed patients, and only biopsy-proven cases
of MRS from the depDerma were included.

A etiologia da MRS permanence indefinida. Sugere-se que as formas monossintomáticas sejam na

verdade uma apresentação de outras patologias como a Sarcoidose ou doença de Crohn, uma vez que
granulomas não necrotizantes são comumente encontrados nos exames patológicos. A associação de MRS
com paralisia facial foi encarada também como uma possível associação com uma infecção por herpes
vírus em pacientes portadores de mutação

The etiology of MRS remains unsolved. The relation of

the monosymptomatic CG form with sarcoidosis and
Crohn’s disease has particularly been studied because of the
common finding of non-necrotizing granulomas1,4; no definite
association exists. One patient in depDerma had had
Crohn’s disease for over 10 years, after which she developed
CG. One of the FP patients had ulcerative colitis. We
did not find similar cases in the literature. MRS with FP
resembles Bell’s palsy in which herpesviruses are considered
possible etiologic factors.19 Such an etiology is also
suggested for MRS with FP.8 MRS is sometimes associated
with herpes infection–type blisters at the beginning of
edema.3,8,15 We searched for mutations that would predispose
the patient to HSV-1 infection, but to no avail.
Casrouge et al9 found these mutations in two otherwise
healthy children with HSV-1 encephalitis. None of our
patients had serious infections recorded in their patient
histories.

Os criterios diagnósticos definidos por Hornstein et al em 1987 caracterizavam como forma completa
era necessário ao menos um episódio de edema combinado com paralisia facial . Sendo assim não era
necessária a apresentação completa da tríade. Estes critérios foram ajustados em 1997, sendo aceito até
hoje e considerado como síndrome completa é necessário apenas que se tenha língua plicata com edema
recorrente com histologia típica, enquanto presença de paralisia facial recorrente deixa de ser critério.
O achado histopatológico típico da MRS mostra um granuloma linfoepitelióide infiltrante, ou muitas
vezes apresentam clusters linfoplasmociticos e infiltrado mononuclear ao redor dos pequenos vasos. O
edema é o sintoma mais prevalente, mas não é necessariamente persistente. Alguns autores criticam o uso
da presença de edema como critério diagnóstico, com relato de portadores de MRS sem edema tão
evidente .

Typical MRS histology shows lymphoepitheloid granuloma

infiltrations, which might also be replaced by small
lymphoplasmocytic clusters or mononuclear infiltrates
surrounding small vessels.2
Edema has previously been shown to be the most
common feature in MRS, affecting almost all patients and
eventually becoming persistent.1,3,5,6 This could also be
seen in depDerma patients in our study, but not in depORL
MRS patients. All patients from depDerma with

persistent edema had typical biopsy findings. Negative

histological findings in typical clinical MRS are common,
14 and repeated biopsies in persistent edema cases
are recommended.3 One of our patients had slight persistent
edema in the upper lip with unspecific previous
biopsy results. New biopsies were taken during an acute
edema episode, revealing typical MRS histology. Some
investigators have suspected the need for persistent
edema and advanced disease before granulomatous infiltrations
develop.1 Another patient had nonpersistent
edema symptoms for only a year with non-necrotizing
granulomatous infiltrations found during an acute edema
episode. These two patient findings suggest that taking
biopsies during the acute edema phase is beneficial. Most
MRS patients with FP in our study had mild edema
symptoms or edema attacks were far apart. Thus, emphasizing
the importance of edema episodes in MRS diagnostics
might underestimate the prevalence and forms of
MRS in patients treated in otorhinolaryngology departments.

As major signs of MRS, Hornstein2 included palsies of

other cranial nerves apart from the facial nerve. One triad
patient in our study had experienced sudden deafness. Additional
criteria suggested for MRS by Hornstein2 include
minor signs of unilateral or bilateral sensory, motor neuron,
or autonomous disturbances. These symptoms have been
found in 80% of the patients2,5 and have been considered as
additions to the diagnosis in incomplete, oligosymptomatic
forms of the disease.2 Of the patients answering the questionnaire
in our study, all but one reported at least one
additional symptom (Table 1). Migraine was very common
in our patients (47%), as reported previously (41%).5 In two
other MRS studies,1,16 by contrast, the prevalence of migraine
did not exceed the figure of 10(-20)% in the general
population.20

Como sinais maiores da MRS, Homstein incluiu paralisias de ouitros nevos cranianos a parte da
paralisia facial/. Como sinais menores, distúrbios sensitivos, motores ou autonômicos. Esses
sintomas chegaram a ser descritos por ate 80% dos pacientes numa série de casos.
CONCLUSION
The clinical picture of MRS varied according to the department
specialty where the patient was treated. MRS apparently
could be divided into two separate forms according to
the aggressiveness of the edema. Moreover, patients with
monosymptomatic CG differed from the other MRS patients
as though it were a distinct, separate disease. Our findings
support taking tissue biopsies during acute edema episodes
to reveal non-necrotizing granulomatous infiltrations. UNC-
93B1 gene mutations predisposing to HSV-1 infections
could not be found. Even though the etiology of MRS is
unknown and treatments (not discussed here) are often unsatisfactory,
it is a relief to the patient to have MRS diagnosed
and the odd separate symptoms explained. We suspect
MRS is more frequent than diagnosed in cases of
nondominating edema. More studies, especially from departments
of otorhinolaryngology, could clarify the clinical
picture and the incidence of different forms of MRS, providing
us with a better understanding of this mystery.

What is the most effective

treatment of cheilitis
granulomatosa in Melkersson–
Rosenthal syndrome?
Editor
The treatment of cheilitis granulomatosa (CG) in Melkersson–
Rosenthal syndrome (MRS) remains a challenge because of the
unclear aetiopathogenesis. Various therapeutic methods were
described.1 There are no randomized, placebo-controlled trials
and therefore it is difficult to compare them. Corticosteroids are
widely used; some authors recommend systemic corticosteroids in
CG therapy, while others did not observe success with systemic
methylprednisone therapy.2 In our opinion, long-term systemic
corticosteroid usage is connected with the high risk of side-effects,
and so it should not be the first line of treatment. Topical triamcinolone
or clobetasol in orobase may cause atrophy; intralesional
administration of triamcinolone remains favourable, but the
response is temporary.3 Because of this reason, other non-steroidal
anti-inflammatory agents are used. A very interesting alternative is
clofazimine. Sussman et al.4 showed complete remission in five of
the 11 patients with CG following the treatment. Ratzinger et al.5
observed complete or partial response in majority of patients treated
with clofazimine. Unfortunately we have no experience with
this drug. Dapson, an antibacterial and anti-inflammatory agent is
successfully used to treat a range of dermatological disorders, especially
those characterized by abnormal neutrophil and eosinophil
accumulation. The efficacy of dapson in CG treatment is rarely
described.
We read with interest the letter by Bacci et Valente. Authors
observed long-term remission after three intralesional administration
of triamcinolone. The presented case enlarged our knowledge
about this rare condition yet it is still unclear what the effect of the
treatment depends on. Authors propose monotherapy with traimcinolone
as sufficient in CG, but there are also described cases treated
this way without success.6 We agree with Bacci et Valente that
intralesional triamcinolone injections could be the first-line therapy.
However, clinical course and therapeutic response of MRS is
unpredictable. It is probably connected with a type of pathogenetic
background. Certainly, further investigations are required.
In conclusion, there is no established therapy of CG in MRS,
which is caused by heterogeneous background of disease. In our

opinion, combined therapy with intralesional triamcinolone and

dapsone is very effective and a safe treatment of CG. We suppose
that dapson can heighten the mode of action of corticosteroids
and allows reduction of its dose. Combined therapy with clofazimine
and traimcinolone may also be very promising.
M Sobjanek,†,* I Michajłowski,† I Z_ elazny,†
W Me˛ drzycka-Da˛ browska,‡ A Włodarkiewicz§
†Departament of Dermatology, Wenerology and Allergology, Medical
University of Gdan´ sk, Poland
‡Departament of Nursing, Medical University of Gdan´ sk, Poland
§Department of Department of Maxillofacial Surgery, Medical University
of Gdan´ sk, Poland
*Correspondence: M Sobjanek. E-mail: [email protected]

Panminerva Med. 2008 Sep;50(3):255-7.

Hashimoto's thyroiditis in Melkersson-Rosenthal syndrome patient:

casual association or related diseases?
Scagliusi P, Sisto M, Lisi S, Lazzari A, D'Amore M.

Department of Internal Medicine and Public Medicine, Section of Rheumatology, University of Bari, Bari, Italy.

Abstract
Melkersson-Rosenthal syndrome (MRS) is a rare disorder of unknown etiology. MRS is classically defined
as a triad of recurrent orofacial edema, relapsing paralysis of the facial nerve, and fissured tongue. The
authors present the case of a 52-year-old woman with orofacial swelling and facial pain attacks. The
patient reported to suffer of hypothyroidism and laboratory findings disclosed free triiodothyronine (FT(3)),
free thyroxine (FT(4)), and thyrotropin (TSH) altered. Endocrinological consult led to the diagnosis of
Hashimoto's thyroiditis. Antithyroper-oxidase antibodies (anti-TPO) were highly elevated and thyroid
function tests had evidenced a clinically significant hypothyroidism. A link between MRS and
immunological disorders such as sarcoidosis, Crohn's disease, unilateral anterior uveitis and multiple
sclerosis was documented. The literature did not report any association between Hashimoto's thyroiditis
and Melkersson-Rosenthal syndrome. The presence of the anti-TPO antibodies in the case reported here
could suggest a possible correlation between immunological alteration characteristic of autoimmune
thyroiditis and MRS.

PMID: 18927530 [PubMed - indexed for MEDLINE]