Fanconi's anemia and dyskeratosis congenita.

Abstract

To the Editor.— Swift et al reported recently (216:325, 1971) that squamous cell carcinomas of the oral mucosa, esophagus, anus, and vulva occurred in adults with Fanconi's anemia. Dyskeratosis congenita (Zinsser-Engman-Cole syndrome) shares numerous features with Fanconi's anemia, including, with full expressivity, progressive refractory pancytopenia, cutaneous dyschromia, obliteration of puncta lacrimalia, atretic external auditory canals, mental retardation, overall frailty, hypogenitalism, and retardation of growth. Moreover, those afflicted with dyskeratosis congenita show strong propensities for development of squamous cell carcinomas (less often, adenocarcinomas) of mucosae and mucocutaneous junctions such as the sites mentioned above.1-5 The karyotypic abnormalities of Fanconi's anemia have not been thus far recorded in dyskeratosis congenita.5-7However, there may be an inordinately high incidence of leukemia in families with dyskeratosis congenita.5,8Reported clinical findings plus our own evaluation of two brothers with dyskeratosis congenita indicate the following to be frequent in dyskeratosis congenita but