Congenital poikiloderma with verruciform hyperkeratosis and bone abnormalities. Variant of Rothmund -Thomson syndrome (type Thomson).

Abstract

Rothmund-Thomson syndrome is a rare inherited disorder. The inheritance is autosomal recessive. In 1868 Rothmund described several children with cataract and a peculiar degeneration of the skin. In 1923 Thomson described sisters who had congenital poikiloderma, but no cataract. Since the skin biopsy showed a type of hyperkeratosis similar to that described by Rothmund, the eponym of Rotmund-Thomson syndrome was coined. We describe a 4-year-old boy with congenital poikiloderma, photosensitivity, missing thumb and hypoplastic radius, small stature, deep voice, sparse hair, normal intelligence but no cataract.