Progressive systemic sclerosis in a child.

Systemic sclerosis is a clinically heterogeneous systemic disease affecting the connective tissues of skin, walls of blood vessels and internal organs like lung, heart and kidneys. Systemic sclerosis is very unusual in pediatric population. Children represent fewer than 10% of all cases. We report a case of 11 years old girl of progressive systemic sclerosis presenting with features of cutaneous sclerosis, microstomia, mask-like facies, sclerodactyly, esophageal dysmotility, Raynaud's phenomenon, arthralgia and pulmonary fibrosis.

What was known?

Localized scleroderma is more common than systemic sclerosis in children and ulceration of finger tips follows severe Raynaud's phenomenon.

Introduction

Progressive systemic sclerosis (PSS) is a rare connective tissue disease of unknown etiology characterized by increased collagen deposition leading to fibrosis and degeneration of skin and internal organs like lung, heart, kidney and gastrointestinal system.[1] The first detailed description of scleroderma-like disease was published by Curzio in Naples in 1753 AD[2] Only 1.5% of cases occur in children less than 10 years of age and 7% occur between 10 and 19 years of age.[3] Females constitute at least ⅔ of all the cases.[4] Most prominent clinical observation is thickened hide-bound skin around fingers and hands (sclerodactyly). Other features of the disease include Raynaud's phenomenon, telangiectasia, calcinosis, myositis, arthritis, tenosynovitis, renal failure, esophageal dysmotility, pulmonary fibrosis and heart failure.[567] Rare localized variant of PSS is termed the Calcinosis, Raynaud's phenomenon, Esophageal dysmotility, Sclerodactyly and Telangiectasia (CREST) syndrome.[8] Here we present a case of 11 year old female with features of PSS like cutaneous sclerosis, mask-like facies, microstomia, sclerodactyly, Raynaud's phenomenon, arthralgia, esophageal dysmotility and pulmonary fibrosis.

Case Report

An 11 year old girl, born of a non-consanguineous marriage, presented with thickening and tightening of skin, which started around her fingers one year back and gradually extended to hands, forearms, feet, lower limbs, face and back over the year. She gave a history of irregular low grade fever and difficulty in swallowing of both solid and liquid diet for last nine months. She also experienced shortness of breath on exertion for last four months and joint pain involving both knees and ankles for three months.

Examination showed hide bound skin around fingers and hands (sclerodactyly), cutaneous sclerosis of forearms, feet, legs and back of trunk. Ulceration of finger tips was not found. There was mild flexion deformity of all her fingers. There was difficulty in dressing, combing and holding objects. Raynaud's phenomenon was positive. Face revealed pinched nose, microstomia (on maximal opening of mouth, the interincisal distance was reduced to 35 mm) and loss of facial expression [Figure 1]. There was salt-pepper appearance of skin over back of trunk and all four extremities [Figure 2].

Figure 1

Showing microstomia

Figure 2

Showing salt-pepper appearance of skin over back of trunk

Investigation revealed mild anemia and elevated erythrocyte sedimentation rate. Barium studies showed hypo motility of esophagus. X-rays of chest, knees, and elbows were normal. But X-rays of hands showed reduced peri-articularbone density. Lung function test indicated restrictive pattern of lung disease with decreased viral capacity. High resolution CT scan indicated interstitial lung disease. ECG showed sinus tachycardia and Echocardiography was normal. Blood for antinuclear antibody (ANA), Anti-ds DNA, Rheumatoid factor, VDRL, LE cell tests were normal. But blood for Antitopoisomerase1 (originally called anti-Scl-70) was strongly positive. Blood for anticentromere antibody and anti-URNP were negative. As the parents declined to give consent, we could not perform skin biopsy.

With these evidences of proximal diffuse sclerosis along with sclerodactyly, restrictive lung disease, esophageal dysmotility, positive Raynaud's phenomenon and strongly positive test of blood for antitopoisomerase1 (originally called anti-Scl-70), diagnosis of progressive systemic sclerosis was made.

Discussion

PSS is a rare, chronic multisystem disorder of unknown cause characterized by fibrosis of the dermis, vascular endothelium and visceral organs. Autoimmune process generates some adhesion molecules on endothelial surface, which entrap platelets and inflammatory cells and cause vascular damage. After these events IL-1 and Platelet Derived Growth Factor (PDGF) are released which induce fibroblasts to reproduce and synthesize collagen.[9] The diagnosis of Systemic sclerosis requires either the presence of the major criterion (typical cutaneous sclerosis involving areas proximal to metacapophalangeal or metatersophalangeal joint) or two of the three minor criteria (sclerodactyly, digital pitting scar and pulmonary fibrosis not attributed to primary lung disease).[10] In our case typical skin sclerosis, the major criterion along with two minor criteria, i.e., sclerodactyly and pulmonary fibrosis were present.

Several conditions may present with findings similar to those of PSS.[1] Acrocyanosis may be seen with pulmonary hypertension, anorexia nervosa and frost-bite but without associated pallor or reflex hyperemia. Primary Raynaud's phenomenon often begins in adolescents and is symmetrical without any evidence of tissue necrosis or gangrene. Raynaud's phenomenon may be due to systemic lupus erythematosus, overlap syndrome or undifferentiated connective tissue diseases. Graft versus host disease may produce sclerodermatous skin changes. Henoch-schonleinpurpura may be associated with diffuse finger swelling. Juvenile rheumatoid arthritis usually has finger swelling restricted to the joints and without overlying tight skin. Eosinophilic fasciitis shows changes similar to those of localized scleroderma. Scleroderma of buschke, a transient disease, produces patchy sclerodermatous changes on the neck and shoulders. Children with phenylketonuria can develop pseudoscleroderma, a condition of cutaneous fibrosis but without other features of scleroderma.[1]

Although PSS cannot be cured, treatment can alleviate symptoms and improve functional ability. Treatment options include Methotrexate, D-Penicillamine, Cyclophosphamide, Azathioprine, Cyclosporine A, Interferon-gamma, 5-Fluorouracil, Plasmapheresis, and extracorporalphotochemotherapy.

We started treatment with D-Penicillamine at a dose of 250 mg. per day in two divided doses. We added Metoclopramide per oral 2.5 mg. three times a day for correction of esophageal dismotilyty. For softening and moistening of skin we prescribed regular message with bath oil. At one month follow up there was fare amount of softening of the hide-bound skin and the girl could open her mouth with much convenience (on maximal opening of mouth, the interincisal distance was increased to 47 mm). The girl could also swallow food and drink more easily. Hence we continue with D-Penicillamine in same dose.

Conclusion

Early features of the disease are often overlooked and high index of suspicion is much required to pick an early diagnosis. But early diagnosis and therapeutic action may halt disease progression and curb morbidity.

What is new?

Our case is progressive systemic sclerosis in a child, which may not be very rare but an uncommon disease and ulceration of finger tips was not found in spite of severe Raynaud's phenomenon.