Infantile Systemic Hyalinosis in a Black Infant

摘要

Abstract:A black girl was born with flexion contractures and experlenced pain on movement by 1 week of age. She subsequently developed perioral papules, gingival hyperplasla, perianal nodules, torticollis, dlarhea, rectal prolapse, and inability to open her mouth. Her skin became increasingly sclerodermatous, and velvety, hyperpigmented plaques arose over bony prominences. A skin biopsy specimen snowed hyallne material in the papillary dermis with tack of elastic fibers. Ultrastructural examination revealed fibrilIogranular material around fibroblasts and blood vessels, This child had the clinical, histologic, and ultrastructural features of Infantile systemic hyalinosis. This disorder has not been described in a black infant. Previous case reports of infantile systemic hyalinosis are reviewed and unusual features of our case are discussed.