International Journal of Research in Medical Sciences

Sankhe P et al. Int J Res Med Sci. 2015 Mar;3(3):802-804

www.msjonline.org pISSN 2320-6071 | eISSN 2320-6012

DOI: 10.5455/2320-6012.ijrms20150356
Case Report

Scleroderma: a case report

Prachi Sankhe*, Spandan Patel, Dhaval Dave, Santwana Chandrakar,
Varun Shetty, S. T. Nabar, Archana Bhate

Department of Medicine, Padmashree Dr. D Y Patil Medical College, Nerul, Navi Mumbai, Maharashtra, India

Received: 28 January 2015

Accepted: 8 February 2015

*Correspondence:
Dr. Prachi Sankhe,
E-mail: [email protected]

Copyright: © the author(s), publisher and licensee Medip Academy. This is an open-access article distributed under
the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial
use, distribution, and reproduction in any medium, provided the original work is properly cited.

ABSTRACT

Scleroderma is systemic multi organ autoimmune disorder characterized by hardening of skin. Also known as
systemic sclerosis. Estimated annual incidences of approximately 19 cases per million persons. The limited skin
disease has a 10-year survival rate of 71%, whereas those with diffuse skin disease have a 10-year survival rate of just
21%. Risk is higher in women than men and peak in individuals aged 30-50 years. It has no definitive treatment. It
may be limited or diffuse depending upon manifestations of symptoms or signs affecting internal organs especially
lungs, heart, or kidney. We report a case of scleroderma with pulmonary hypertension and interstitial lung disease in
our hospital who presented with tightening of skin, joint pain, dysphagia, and breathlessness. On examination skin
appeared dark, shiny, and tight, with loss of hair, paraesthesia and digital ulceration. Patient also has history of
Raynaud's phenomenon. On investigation, Scl-70 and ANA (antinuclear antibodies) by enzyme immunoassay came
positive. HRCT thorax was suggestive of interstitial fibrosis and PFT revealed moderate restriction. On 2D
echocardiography, mild pulmonary hypertension was present while barium swallow showed motility disorder
involving oesophagus. On view of extensive systemic involvement like skin, respiratory system, gastrointestinal
system and heart, we would like to present this rare disorder.

Keywords: Scleroderma (SSc), Pulmonary hypertension (PAH), Raynaud’s phenomenon, Interstitial lung disease
(ILD)

INTRODUCTION Localized scleroderma usually affects only the skin on

the hands and face. Its course is very slow, and it rarely,
Systemic sclerosis is a chronic autoimmune disease if ever, spreads throughout the body (becomes systemic)
characterised by thickening and fibrosis of the skin. or causes serious complications. There are two main
Internal organs like heart, lungs, kidneys and forms of localized scleroderma: morphea (patches of hard
gastrointestinal tracts are often involved. It is connective skin) and linear (band of hard skin involving bone)
tissue disorder of unknown etiology, heterogeneous scleroderma.2
clinical manifestations and chronic and often progressive
course.1 Patients with scleroderma may develop either Systemic scleroderma is also called systemic sclerosis.
a localized or a systemic (body-wide) form of the This form of the disease may affect the organs of the
disease.2 Gintrac in 1847 introduced the term body, large areas of the skin, or both. This form of
“scleroderma” as skin is most obvious organ involved. 1 scleroderma has two main types: limited and
diffuse scleroderma.2 In limited disease [formerly called

International Journal of Research in Medical Sciences | March 2015 | Vol 3 | Issue 3 Page 802
 Sankhe P et al. Int J Res Med Sci. 2015 Mar;3(3):802-804

CREST (Calcinosis, Raynaud’s phenomenon, CASE REPORT

oesophageal dysmotility, sclerodactyly, and
telangiectasia’s) syndrome], skin tightening is confined to 65 year old female presented to hospital with complains
the fingers, hands, and forearms distal to the elbows, with of darkening and tightening of skin all over body which
or without tightening of skin of the feet and of the legs was gradual in onset over 10 months (Figure 1). Patient
distal to the knees. In diffuse disease or diffuse cutaneous also has history of discolouration of skin on exposure to
systemic sclerosis (dcSSc), the skin of the proximal cold which begin over 7 months. Over 2 months, patient
extremities and trunk is also involved. Both dcSSc and started complaining of dysphagia and breathlessness.
lcSSc are associated with internal organ involvement; Gradually patient complained loss of wrinkling over face
however, patients with dcSSc are at greater risk for and limitation of movement at knee joint due to skin
clinically significant major organ dysfunction. These tightening.
patients are at risk for early pulmonary fibrosis and acute
renal involvement.

Systemic sclerosis sine scleroderma is a rare disorder in

which patients develop vascular and fibrotic damage to
internal organs (phenotypically similar to that in limited
scleroderma), in the absence of cutaneous sclerosis.3

Pulmonary Arterial Hypertension (PAH) in SSc can be an

isolated precapillary pulmonary artery hypertension or
secondary in association with Interstitial Lung Disease
(ILD). PAH developing in SSc is particularly severe and
one year survival following diagnosis is 55%.4

Pathogenesis
Figure 1: Pinched nose.
Three cardinal features of the disease are vasculopathy,
cellular and humoral auto immunity, and progressive On inspection, skin appeared shiny, tight and loss of hair
over face, fingers, knees, and toes which was diffuse.
visceral and vascular fibrosis in multiple organs.
Autoimmunity and altered vascular reactivity may be the Swelling over distal interphalangeal joints with pitting
earliest manifestations of systemic sclerosis. The scars over finger tips was present (Figure 2 & 3).
pathophysiology involves several cell lines, such as Hyperpigmentation of skin over trunk is seen (Figure 4).
endothelium, fibroblasts, lymphocytes and their
mediators. The vascular phase begins in the endothelium
of small vessels throughout the body, although the
primary event that triggers endothelial damage is
unknown. Tissue hypoxia is one of the primary events
that modify vascular tone.4

The endothelium contributes to the regulation of the

contraction and relaxation of vascular smooth muscle
cells through the production and release of endothelium-
derived vasoactive substances including prostacyclin
[prostaglandin (PG)I2], endothelium-derived relaxing
factor (EDRF or nitric oxide), and endothelin. Figure 2: Pigmentation and tightening of skin.
Endothelin-1 plays an important role in the pathogenesis
of scleroderma. Elevated plasma endothelin is seen in
scleroderma-associated pulmonary hypertension and
Raynaud’s phenomenon. Other key growth factors that
have also been implicated in the pathogenesis are
Connective Tissue Growth Factor (CTGF), and Platelet-
Derived Growth Factor (PDGF).3

Thus we report such a case of diffuse scleroderma

presenting with diffuse skin hardening, dysphagia and
breathlessness having Raynaud’s phenomenon,
pulmonary hypertension and early pulmonary fibrosis.

Figure 3: Pitting scar over fingertips.

International Journal of Research in Medical Sciences | March 2015 | Vol 3 | Issue 3 Page 803
 Sankhe P et al. Int J Res Med Sci. 2015 Mar;3(3):802-804

atrophy and resorption of soft tissue at finger tips with

soft tissue calcification. Pulmonary fibrosis and
secondary pulmonary hypertension seen in diffuse variety
is a cause for the mortality and presents with exertional
dyspnoea, fatigue, palpitation, chest pain, syncope and
cough. It is thus necessary for regular check-up and
evaluation of any organ involvement for definitive
management in decreasing early progression of disease.

Although there is no definitive cure for scleroderma,

early diagnosis followed by addition of calcium channel
blocker or ACE inhibitors and symptomatic relief with
physiotherapy and psychotherapy involving proper
Figure 4: Pigmentation and tightening of skin.
nursing care to avoid tissue injury plays an important role
to reduce mortality and modify quality of life.
On further evaluation and blood investigation, anti-
nuclear antibody was positive (2.7, reference range up to Funding: No funding sources
1.2) while anti SCL - 70 antibody was positive (198, Conflict of interest: None declared
reference range up to 20 RU/ML) which confirmed Ethical approval: Not required
diagnosis. Later barium swallow was done which was
suggestive of motility disorder or connective tissue REFERENCES
disorder in lower 2/3rd of oesophagus. High Resolution
Computed Tomography (HRCT) of chest was done 1. Gandage G., Aironi VD, Gauri Sawadkar.
which revealed interstitial thickening of bilateral Radiological manifestations of scleroderma: a case
interlobular areas of lungs suggests early interstitial report. Pravara Med Rev. 2011;3(2):40-2.
fibrosis. Pulmonary function test showed moderate 2. Cleveland Clinic - Soumya Chatterjee. Systemic
restriction. 2D echocardiography showed pulmonary scleroderma, 2014. Available at:
hypertension of more than 40 mmHg with left ventricular http://www.clevelandclinicmeded.com/medicalpubs/
diastolic dysfunction. Rest other blood parameters diseasemanagement/rheumatology/systemic-
appeared normal with no renal involvement. sclerosis/Default.htm.
3. Uma Kumar, Ramteke R, Yadav R, Ramam M,
Thus above findings gave us diagnosis of diffuse Rohini Handa, Kumar A. Prevalence and predictors
scleroderma with multiorgan involvement. of pulmonary artery hypertension in systemic
sclerosis. J Assoc Physicians India. 2008
DISCUSSION Jun;56:413-7.
4. Alejandro Nitsche Raynaud. Digital ulcers and
Systemic sclerosis is a connective tissue disorder of calcinosis in scleroderma. Reumatol Clin.
unknown etiology. Raynaud’s phenomenon, defined as 2012;08:270-7.
episodic vasoconstriction of small arteries of fingers and 5. Mansoor Karimifar, Hourosadat Hashemi, Mozhgan
toes is the first symptom in 95% of cases. In dcSSc, Karimifar, Amir Kazizadeh. A case of sine
interval between Raynaud’s phenomenon and appearance scleroderma with parenchymal lung disease. Adv
of other manifestations is brief over weeks or months Biomed Res. 2014 Jan;3:39.
while in lcSSc, it follows over years. Involvement of skin 6. Louis D. Hayman; Robert E. Hunt. Pulmonary
leads to firm, thickened and eventually tightly bound skin fibrosis in generalized scleroderma: report of a case
to underlying subcutaneous tissue. Involvement of face and review of the literature. Chest. 1952;21(6):691-
results in thinning of lips, loss of skin wrinkles and facial 704.
expressions. The nose takes on a pinched or beaklike
appearance. In oesophagus there is hypotonia or atony DOI: 10.5455/2320-6012.ijrms20150356
with hypokinesia or aperistalsis in lower two-third of Cite this article as: Sankhe P, Patel S, Dave D,
oesophagus. More than 50% of patients with scleroderma Chandrakar S, Shetty V, Nabar ST, Bhate A.
have musculoskeletal features, majority of which are seen Scleroderma: a case report. Int J Res Med Sci
in hands. Involvement of fingers leads to sclerodactyly, 2015;3:802-4.

International Journal of Research in Medical Sciences | March 2015 | Vol 3 | Issue 3 Page 804