A rare inherited disorder with multiple expressions chiefly in the ectodermal realms was definitively described in 1930, although the first reported case was in 1906. In this disorder the major features are a frail physique, leukoplakia, profound anemia, pigmentary changes in the skin, nail dystrophy, and carcinoma. The previously reported patients have all been male. This communication describes a female with all the classical abnormalities of the disease, reviews the literature, and points out some similarities to Fanconi's syndrome.
SORROW JM, HITCH JM. Dyskeratosis Congenita: First Report of Its Occurrence in a Female and a Review of the Literature. Arch Dermatol. 1963;88(3):340–347. doi:10.1001/archderm.1963.01590210098015
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: