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

A family was reported in which a boy and two girls exhibited both keratoma hereditaria mutilans (Vohwinkel's disease) and congenital alopecia universalis. The children were born without hair and never developed any, showing congenital, nonscarring alopecia universalis. They also experienced progressive thickening of the skin on their palms and soles, leading to deformities. Histopathological examination showed normal scalp skin but a significantly thickened horny layer on the palms. Treatments were ineffective. One girl had a meningocoele and died postoperatively. This was the first report of these two rare hereditary diseases occurring simultaneously in siblings.