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Year : 2017  |  Volume : 18  |  Issue : 1  |  Page : 65-67

Progressive systemic sclerosis in a child: A rare phenomenon

1 Department of Dermatology, Venereology and Leprosy, Government Medical College, Kota, Rajasthan, India
2 Department of Respiratory Medicine, Government Medical College, Kota, Rajasthan, India

Date of Web Publication12-Dec-2016

Correspondence Address:
Savita Arya
Department of Dermatology, Venereology and Leprosy, Government Medical College, Kota - 324 010, Rajasthan
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.195568

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How to cite this article:
Arya S, Kushwaha RK, Bunkar ML, Jain S. Progressive systemic sclerosis in a child: A rare phenomenon. Indian J Paediatr Dermatol 2017;18:65-7

How to cite this URL:
Arya S, Kushwaha RK, Bunkar ML, Jain S. Progressive systemic sclerosis in a child: A rare phenomenon. Indian J Paediatr Dermatol [serial online] 2017 [cited 2021 May 6];18:65-7. Available from: https://www.ijpd.in/text.asp?2017/18/1/65/195568


Scleroderma is derived from the Greek words skleros (hard or indurated) and derma (skin).[1] Hippocrates first described this condition as thickened skin. Juvenile systemic sclerosis (JSSc) is a chronic multisystemic connective tissue disorder characterized by symmetrical thickening and hardening of the skin associated with fibrous changes in the internal organs. The epidemiological data regarding incidence and prevalence of progressive systemic sclerosis (PSS) in children is very rare and ranges from 1% to 2% below 10 years. Childhood PSS also has a female predominance of more than 75% and usually begins before puberty.[2] Here, we are presenting a case of an 8-year-old child with sclerosis of the skin associated with mask-like faces, sclerodactyly, Raynaud's phenomenon, and pulmonary fibrosis.

An 8-year-old girl presented with complaints of thickening and tightening of skin since 8 months, which started around her fingers and gradually extended to hands, forearms, feet, lower limbs, face, and back. She gave a history of low-grade fever and shortness of breath on exertion for the last 4 months. Her past medical history was nonspecific without any prior complaints.

On examination, the hands, forearms, feet, and trunk showed hidebound skin. A typical mask-like face, purse string mouth, sclerodactyly with Raynaud's phenomenon, and salt and pepper pigmentation were present over both feet [Figure 1]a,[Figure 1]b,[Figure 1]c. The downward retraction of lower eyelid was absent (Ingram sign) with no ulceration of fingertips.
Figure 1: (a-c) Mask-like face , purse string mouth, sclerodactyly with Raynaud's phenomenon, and salt and pepper pigmentation over both feet

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Routine blood investigations revealed mild anemia and elevated erythrocyte sedimentation rate. X-rays chest shows the bilateral retico-nodular pattern in the lower zone. The X-rays of hands, knees, and elbows were normal. Barium studies of esophagus and echocardiography were normal. Pulmonary function test indicated restrictive pattern with decreased vital capacity, and high-resolution computed tomography (HRCT) scan indicates interstitial lung disease [Figure 2]a,[Figure 2]b,[Figure 2]c. Blood for antinuclear antibody and antitopoisomerase-1 (also called anti-Scl-70) were strongly positive, but anti-ds-DNA, rheumatoid factor, anticentromere antibody, anti-U ribonucleoprotein, venereal disease research laboratory test, and lupus erythematosus cell test were negative. Skin biopsy showed increased connective tissues under the sweat glands, which was consistent with the symptoms of scleroderma.
Figure 2: (a-c) Pulmonary function test indicated restrictive pattern with decreased vital capacity and high resolution computed tomography scan indicates pattern of interstitial lung disease

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With these evidence of proximal diffuse sclerosis along with sclerodactyly, positive Raynaud's phenomenon, restrictive lung disease, and markedly raised titer of antitopoisomerase-1 and histopathology favors the diagnosis of progressive systemic sclerosis.

JSSc is characterized by Raynaud's phenomenon (90–95%), diffuse skin involvement, and a microvasculopathy leading to progressive dysfunction of the internal organs. Although JSSc is reminiscent to adult-onset disease, still a number of distinguishing features are extant as JSSc appears to be less severe than adult form because children have less internal organ involvement, less specific autoantibody profile, and a better long-term outcome.[3]

The international pediatric and adult rheumatologists along with dermatologists proposed the classification criteria for JSSc by Delphi technique to prevent the delayed diagnosis.[4] This criterion includes one major and nine minor criteria [Table 1]. The one major and two minor criteria's are mandatory to ruminate grieve from JSSc as in our patient present (Major criteria - typical skin sclerosis, minor criteria - sclerodactyly, pulmonary fibrosis, and serological positive test for antitopoisomerase-1).
Table 1: Preliminary classification criteria for juvenile systemic sclerosis

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The clinical presentation can be unfamiliar as initial symptoms may be nonspecific such as unexplained fever, fatigue, or loss of appetite. The majority of children with JSSc presents with skin changes (tightening, thinning, or atrophy) of the hands and face and/or Raynaud's phenomenon sometimes difficulty in opening the mouth, tightness, and slimness on the lip skin also seen. Similarly, our patient suffered from skin flattening, slimness, and sclerodactyly. Pulmonary involvement can present with dry cough and dyspnea.[5] Although our patient was asymptomatic, her spirometry shows restrictive pattern and HRCT suggestive of interstitial lung disease. Only half of the patient shows esophageal dysfunction as our patient had no such symptoms.

Various connective tissue disorders such as systemic lupus erythematosus, polymyositis, and dermatomyositis mimic to PSS. These should be differentiated by their particular clinical features and specific antibody positivity.[6] There is no definitive treatment regimen for JSSc, except antifibrotic medication, immunosuppressive agents, and vasodilators; however, therapeutic approaches depend upon whether their disease is in an “active” inflammatory stage or a later “irreversible” with fibrosis without active inflammation.[7]

The prognosis in childhood scleroderma depends on functional impairment and the course of visceral organ involvement. Foeldvari et al. have reported that most patients of JSSc show a favorable outcome with better survival rate as compared to their adult counterparts.[8]

The occurrence of systemic sclerosis in children is very rare, and the prognosis depends on functional impairment and the course of visceral organ involvement. However, a very high index of suspicion is required for early and prompt diagnosis. Although there is no single therapy for JSSc, still the early diagnosis and therapeutic action can halt the disease progression and curtail morbidity. The close collaboration among pediatricians, rheumatologists, and dermatologists represents an important advance in the management of this disabling condition.

Declaration of Patient Consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial Support and Sponsorship


Conflicts of Interest

There are no conflicts of interest.

  References Top

Aslan A, Koturogl G, Sozeri B, Kurugol Z. Systemic scleroderma in childhood: A case report. Arch Rheumatol 2014;29:219-23.  Back to cited text no. 1
Panda S. Scleroderma in children: Emerging management issues. Indian J Dermatol Venereol Leprol 2010;76:348-56.  Back to cited text no. 2
[PUBMED]  Medknow Journal  
Yadav A, Yadav TP, Gupta V. Juvenile systemic sclerosis. JIACM 2011;12:128-33.  Back to cited text no. 3
Zulian F, Woo P, Athreya BH, Laxer RM, Medsger TA Jr, Lehman TJ et al. The PRES/ACR/EULAR provisional classification criteria for juvenile systemic sclerosis. Arthritis Rheum 2007; 57:203-12.  Back to cited text no. 4
Belgaumkar VA, Gokhale NR, Mahajan PM, Tolat SN, Bhokare A, Kamble S. Progressive systemic sclerosis in childhood: A report of three cases. Indian J Dermatol Venereol Leprol 2004;70:96-8.  Back to cited text no. 5
[PUBMED]  Medknow Journal  
Reveille JD, Solomon DH; American College of Rheumatology Ad Hoc Committee of Immunologic Testing Guidelines. Evidence-based guidelines for the use of immunologic tests: Anticentromere, Scl-70, and nucleolar antibodies. Arthritis Rheum 2003;49:399-412.  Back to cited text no. 6
Scalapino K, Arkachaisri T, Lucas M, Fertig N, Helfrich DJ, Londino AV Jr, et al. Childhood onset systemic sclerosis: Classification, clinical and serologic features, and survival in comparison with adult onset disease. J Rheumatol 2006;33:1004-13.  Back to cited text no. 7
Foeldvari I, Zhavania M, Birdi N, Cuttica RJ, de Oliveira SH, Dent PB, et al. Favourable outcome in 135 children with juvenile systemic sclerosis: Results of a multi-national survey. Rheumatology (Oxford) 2000;39:556-9.  Back to cited text no. 8


  [Figure 1], [Figure 2]

  [Table 1]


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