Cutaneous and ocular manifestations of Down syndrome

Abstract

A patient with Down syndrome and extensive elastosis perforans serpiginosa is presented. There is an increased incidence of elastosis perforans serpiginosa, alopecia areata, syringomas, and Norwegian scabies in patients with this syndrome. Ocular findings include slanting of the palpebral fissures, Brushfield's spots, nystagmus, and epicanthal folds. Serious ocular complications that may impair vision include keratoconus, congenital cataracts, and retinal detachment.