Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)

Abstract

A family is described in which a boy and two girls had features of keratoma hereditaria mutilans (Vohwinkel's disease) and congenital absence of hair. None of them had any hair at birth or developed any subsequently. They had congenital, nonscarring alopecia universalis. The skin over the palms and soles showed progressive thickening, which led to mutilating deformities of the hands and fingers. Histopathological examination of the scalp skin revealed no changes in the epidermis or dermis with normal sebaceous glands and identify hair structures; the skin on the palms showed a tremendously thickened horny layer. Both conditions remained unresponsive to various topical and systemic remedies used in the past. One of the girls had a meningocoele of the dorsolumbar region and died postoperatively. The simultaneous appearance of two rare hereditary diseases in siblings of one family is being reported for the first time.