Dyskeratosis congenita.

Abstract

Dyskeratosis congenita is a rare condition characterised by reticulate skin hyperpigmentation, mucosal leucoplakia, and nail dystrophy. More serious features are bone marrow involvement with pan- cytopenia and a predisposition to malignancy. It was first described in 1906 by Zinsser,' later by Cole,2 and by Engmann,3 and is sometimes referred to as the Zinsser-Engmann-Cole syndrome. There have been 104 cases published, of whom 51 have been reviewed previously.4 Clinical features SKIN Dermatological features are the most consistent findings (table). Reticulate skin pigmentation, which may be telangiectatic, affects predominantly the neck, upper chest, and upper arms and often surrounds patches of pale, atrophic skin (fig Nail