Progressive Systemic Sclerosis in a Child
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.\nExamination 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 []. There was salt-pepper appearance of skin over back of trunk and all four extremities [].\nInvestigation 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.\nWith 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.