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Juvenile scleroderma syndromes are multisystem autoimmune rheumatic diseases whose unifying characteristic is the development of hard skin before age 16. They can be separated into two main categories: those with diffuse skin sclerosis involving many sites of the body together with internal organ involvement (juvenile systemic sclerosis [JSSc]) and those with circumscribed skin induration but no vascular or internal organ involvement (juvenile localized scleroderma [JLS]).

Juvenile systemic sclerosis (JSSc) is a chronic multisystem connective tissue disease characterized by the symmetrical thickening and hardening of the skin, associated with fibrous changes in such internal organs as the esophagus, intestinal tract, heart, lungs and kidneys, plus arthritis and myositis. A Committee on Classification Criteria for JSSc, including pediatricians, rheumatologists, and dermatologists, recently proposed new classification criteria (Table 206-1).1

Table 206-1. Preliminary Classification Criteria for Juvenile Systemic Sclerosis

Epidemiology

Systemic sclerosis is a rare condition in any age group, with an estimated annual incidence ranging from 0.45 to 1.9 in 100,000, and a prevalence of approximately 15 to 24 in 100,000.2

Onset in childhood is particularly uncommon: children under age 16 account for less than 5% of all cases,3 and fewer than 10% develop systemic sclerosis before age 20.4,5 Juvenile systemic sclerosis develops at a mean age of 8.1 years, with a peak incidence between ages 10 and 16.3 The disease is almost 4-fold more prevalent in females, but there is no recognized racial predilection.6

Clinical Manifestations

Children developing scleroderma typically present with Raynaud phenomenon and skin changes (eFig. 206.1). Raynaud phenomenon is the first sign of the disease in 70% of patients and in 10% it is complicated by digital infarcts (eFig. 206.2). It is more common in the fingers but can be observed in other acral regions including the toes, ears, lips, tongue, and tip of the nose.

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