The First Presentation of Localized Scleroderma at Birth: Scleroderma as a Differential Diagnosis of Congenital Skin Lesion

Abstract

Localized scleroderma is an uncommon autoimmune disease characterized by fibrosis of the skin and underlying tissue without involvement of blood vessels or internal organs. It usually affects children during later childhood, and early presentation of localized scleroderma during infancy is rare. In the current study, we report a child with localized scleroderma-related presentations occurring at birth. A 2-day-old male neonate presented with a firm, erythematous, and slightly pigmented plaque on his left thigh, leading to a change in the diameter of the affected foot and contracture of the left knee. At the age of 7 months, he was referred to our rheumatology clinic with normal growth and development. Laboratory studies, including urine and blood high-performance liquid chromatography assay, antinuclear antibodies, antitopoisomerase I, and rheumatic factor, were in the normal range. No signs of ocular involvement were noted during ophthalmological consultation. Skin biopsy showed mild acanthosis and collagen bundles, which replaced the fat around the sweat glands. A final diagnosis of localized scleroderma was made. Treatment was started with oral prednisolone, oral methotrexate (MTX), and colchicine. The skin lesion stopped progressing after 3 months of treatment. Steroid was then tapered over 6 months, while MTX and colchicine were continued for 2 years. Localized scleroderma during early infancy is a rare disease, but it should be considered as a differential in infants with erythematous and firm lesions on their body at birth because early treatment can prevent future complications.