Four or possibly five males in a kinship group had features of dyskeratosis congenita, a syndrome comprising poikiloderma atrophicans vasculare, dystrophia unguium, and leukoplakia oris. In addition, three members of the kinship demonstrated hematologic changes compatible with the hypoplastic anemia described by Fanconi. Based on the hemopoietic disturbance found in these three cases and that observed in seven similar cases from the literature, it is believed that the abnormalities associated with dyskeratosis congenita should be considered a further variant of the diverse congenital defects encompassed by the syndrome of Fanconi's familial pancytopenia.
Bryan HG, Nixon RK. Dyskeratosis Congenita and Familial Pancytopenia. JAMA. 1965;192(3):203–208. doi:10.1001/jama.1965.03080160023005
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