SCLERODERMA
first described this condition as thickened skin, Scleroderma. In 1945, Robert H. Goetz first described in
detail the concept of scleroderma as a systemic disease; he introduced the term progressive systemic
sclerosis.This article reports the case of a systemic sclerosis patient. A 33 year old woman with chief
complain stiffnes of the hand joints and skin since 3 year prior to hospital admission. Initially, she had
been experiencing whitish skin lesion that gradually blackened and become tightened. Patient also had
been experiencing tightened of her mouth with the result that she had difficulty to swallow the food
(dysphagia). From physical examination reveals diffuse fibrosis of the skin and internal organ (lung,
esophagus). Laboratory result: ANA test and CRP positive. The patient were treated symptomatically and
supportive and focuses on the organ systems involved.
INTRODUCTION
Scleroderma is derived from the Greek words skleros (hard or indurated) and derma (skin). Hippocrates
first described this condition as thickened skin, Scleroderma. Scleroderma is a rare disease; it usually
presentsbetween the ages of 35 and 55, with an up to 8 - fold female excess.Population prevalence
studies estimate the prevalence of sclerodermato be between 30 and 1130/million — the wide variation is due to the lack of population studies, as the disease is rare1. In the USA, the prevalence of scleroderma in the general population has been reported in the range of 50 per 1.000.000. The disease is very rare in
childhood, with peak occurrence in the 30-40 years age group. Women are affected four times more often
than men. Environmental factors seem to play a greater role than genetic factors in the aetiology;
etiological agents implicated include viruses, silica exposure, vinyl chloride, organic solvents, bleomycin,
and even smoking and alcohol intake. Genetic factors influence the clinical expresion of the disease.2
Genetic influences have long been suspected to impact SSc. In families with a history of SSc, the
incidence of disease can range from 1.5 to 1.7% 3
Systemic sclerosis is a complex and heterogeneous disease with clinical forms ranging from limited skin
involvement (limited cutaneous systemic sclerosis) to forms with diffuse skin sclerosis and severe and
often progressive internal organ involvement (diffuse cutaneous systemic sclerosis), and occasionally a
fulminant course (fulminant systemic sclerosis). Limited cutaneous systemic sclerosis involves areas
distal to the elbows and knees but may involve the face and neck. CREST syndrome (calcinosis, Raynaud
phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias—although not all are needed for the disorder to be called CREST) is an older term used to describe this subset of limited cutaneous
systemic sclerosis.1,4,5
A systemic sclerosis diagnosis is based on clinical findings, which have substantial heterogeneity and
varying manifestations. The classic clinical presentation is a young or middle-age woman with Raynaud
phenomenon and skin changes accompanied by musculoskeletal discomfort and gastrointestinal
symptoms. Diffuse cutaneous systemic sclerosis refers to skin thickening affecting the trunk and the skin
of the extremities proximal to the elbows and knees besides involvement of the face. Systemic sclerosis
involvement is most obvious in the skin; however, the gastrointestinal tract as well as the respiratory,
renal, cardiovascular, musculoskeletal, endocrine, and genitourinary systems are frequently involved.
have been found with specific autoantibodies such as anti-centromere antibodies and anti-topoisomerase I
(also called Scl-70) antibodies. A number of environmental triggers are thought to be risk factors for the
disease. Exposure to silica dust (stone masons and gold miners) has been linked with the disease but there
is no evidence that silicone implants increase the disease risk. Exposure to organic solvents has been
linked to an increased risk of scleroderma, and there is some evidence from case reports that specific
The American College of Rheumatology (ACR) criteria for the classification of systemic sclerosis require
one major criterion or two minor criteria, as follows6,9,12,13, :
A. Major criterion: Proximal scleroderma is characterized by symmetric thickening (non pitting)
proximal to the MCPs (metatarsophalangeal joints), tightening, and induration of the skin of the
fingers and the skin that is proximal to the metacarpophalangeal or metatarsophalangeal joints.
This symptoms usually bilateral, symetrical, and almost always including sclerodactyly. But the
major criteria is sufficient.
B. Minor criteria : 2 or 3 are needed if no major criterion
o Sclerodactyly is characterized by thickening, induration, and tightening of the skin,
limited to only the fingers.
o Digital pitting scars or a loss of substance from the finger pad: As a result of ischemia,
depressed areas of the fingertips or a loss of digital pad tissue occurs.
o Bibasilar pulmonary fibrosis includes a bilateral reticular pattern of linear or lineonodular
densities most pronounced in basilar portions of the lungs on standard chest
roentgenography. These densities may assume the appearance of diffuse mottling or a
honeycomb lung and are not attributable to primary lung disease
CASE REPORT
Patient is a 33 year old woman came to outpatient ward of internal department with chief complain
stiffnes of the hand joints and skin since 3 year prior to hospital admission. From her history of illness,
initially the patient had been experiencing whitish skin lesion that gradually blackened and become
tightened. Patient also had been experiencing tightened of her mouth with the result that she had difficulty
to swallow the food. No history of corrosive liquid consumption and vomitus after eating were not found.
During physical examination, the patient was fully alert with normal blood pressure, no sign of fever,
however abnormalities were found in her face, neck, chest and superior extremities. Laboratory results of
complete blood count, liver function test and renal function test were under normal limits, ANA test : 153
(<20), CRP : positive. Radiological examination of her hand reveals deformities of medial phalangeal and
contracture of distal phalangeal of digiti I-V. Density and trabeculation of the bone were composed, no
narrowing of the joint space, no lytic lesion, no blastic lesion and fracture. Radiological examination of
her chest reveals sinus costophrenicus sharp, diaphragm smooth, fibrosison both lung. CTR<50%, trakea
on medial , bones and soft tissue were composed.
Current working diagnosis were systemic sclerosis with involvement of internal organs (lung and
oesophagus). The patient was given symptomatic treatment and supportive for her disability.
Figure.1. Masklike facies with stretched, shiny skin and loss of normal facial lines giving a younger appearance than actual age; the hair and eyebrows are dyed black, beak-like sharp nose.Thinning of the lips and perioral sclerosis result in a small mouth (microstomia), which is asymmetric, creating a snarling appearance. Sclerosis (whitish, glistening areas) and multiple telangiectases are also present..
DISCUSSION
This is a case of scleroderma (systemic sclerosis) which is a chronic connective tissue disease of unknown
etiology that causes widespread microvascular damage and excessive deposition of collagen in the skin
and internal organs.Two forms of scleroderma are generally recognized: limited (80% of patients) and
diffuse (20%). In practice, the diagnosis of scleroderma is clinical and is made by the presence of
Raynaud’s phenomenon, typical skin thickening and visceral involvement. Laboratory investigations are
supportive. In limited scleroderma, which is also known as the CREST syndrome (representing calcinosis
cutis, Raynaud phenomenon, esophageal motility disorder, sclerodactyly, and telangiectasia), the
ntation secondary to scleroderma. The “tanned” skin is
Posteroanterior chest radiograph with interstitial lung disease secondary to scleroderma. The radiograph reveals severe scarring and very small lung volumes
Figure 3a,b,c,d. Hand contractures in severe, long-standing diffuse systemic sclerosis. Both hyperpigmentation and hypopigmentation secondary to scleroderma. The “tanned” skin is actually hyperpigmentation secondary to scleroderma. The hypopigmentation over the metacarpophalangeal joints is also a result of skin infl ammation
hardening of the skin (scleroderma) is limited to the face and hands. In contrast, in diffuse scleroderma
the skin changes also involve the trunk and proximal extremities. Tendon friction rubs over the forearms
and shins occur uniquely (but not universally) in diffuse scleroderma.1,7
GI tract involvement is common in scleroderma, with esophageal involvement being most common,
followed by anorectal disease, small bowel and colonic involvement. Proton pump inhibitors are highly
effective in reducing symptoms of gastroesophageal reflux and preventing complications such as fibrosis
and stricture formation. These drugs should be used routinely in anyone with suspected scleroderma and
reflux esophagitis. Prokinetic agents, such as metoclopramide and cisapride, may be used in combination.
Nifedipine given for Raynaud’s lowers esophageal spincter pressure and may worsen the symptoms of
reflux esophagitis. Symptomatic treatment of esophagitis includes intake of small meals, sitting upright
after eating and avoiding heavy meals at bedtime. Bacterial overgrowth, resulting from intestinal stasis, is
best managed with broad-spectrum antibiotics, such as ampicillin, tetracycline, ciprofloxacin and
metronidazole. Antibiotics are given in 2–3-week courses, with alternating antibiotic-free periods of 1–2 weeks to reduce the development of resistant strains. In advanced cases of malabsorption, parenteral
nutrition may be required.12
Antinuclear antibodies are seen in 75–95% of patients with scleroderma. ANA specificities include distinct antibody subsets with different clinical associations (Table 2). It is controversial whether
antibodies play a direct role in pathogenesis or whether they are an epiphenomenon of the disease process
per se. The antibodies classically associated with scleroderma are ACA (limited variant) and
antitopoisomerase I or anti-Scl-70 (diffuse variant). Less commonly occurring are the antinucleolar
antibodies, which include anti-PML-Scl, antifibrillarin/anti-U3 ribonucleoprotein, anti-Th/ To and the
anti-RNA polymerase family. In addition to disease-specific antibodies, other antibodies, such as anti-Ku,
anti-Ro, antiphospholipid, anti-U1RNP and anti-Sm antibodies, are seen less frequently and are not
Elevated circulating BLyS levels are alsofound in patients with scleroderma, dermatomyositis,Wegener’s
granulomatosis, or antineutrophilcytoplasmic antibody (ANCA)-associatedvasculitis.In scleroderma
patients, skinthickness correlates with serum BLyS levels, andlocal BLyS expression is increased in the
skinof patients with early diffuse cutaneousscleroderma. Moreover, declining serum BLySlevels over
time correlate with regression of skinsclerosis, whereas increasing serum BLySlevels over time correlate
with new onset orworsening of organ involvement.These intriguing correlations not with standing, the
precisepathogenetic connection between circulating BLyS levels and clinical features in thesedisorders
remains to be fully elucidated.13
CONCLUSION
Scleroderma/systemic sclerosis is a rare chronic disorder characterized by diffuse fibrosis of the skin and
internal organs. The causes of scleroderma are not known, but autoimmunity, endothelial cell damage,
and increased production of extracellular matrix appear to play key pathogenic roles.
Treatment of scleroderma is symptomatic and supportive and focuses on the organ systems involved.
There is no effective therapy for the underlying disease process. However, interventions for management
of specific organ manifestations of this disease have improved substantially.
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5. Helen Foster, Lori Tucker, Musculoskeletal Disorders in Children and Adolescents, Chapter 16,
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