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Dyskeratosis congenita with pancytopenia
Author(s) -
Dodd H.J.,
DEVEREUX S.,
SARKANY I.
Publication year - 1985
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.1985.tb02555.x
Subject(s) - dyskeratosis congenita , pancytopenia , dermatology , medicine , leukoplakia , malignancy , keratosis , dyskeratosis , hyperpigmentation , hyperkeratosis , pathology , bone marrow , biology , genetics , dna , cancer , telomere
Summary Dyskeratosis congenita is a rare inherited disorder characterized by skin pigmentation, nail dystrophy, leukoplakia and a variable number of additional features. This paper describes a patient who developed a serious manifestation, pancytopenia, as well as obliterated lacrimal puncta, gingivitis and loss of dermatoglyphics. The tendency to early malignancy is discussed and management by bone marrow transplantation and oral retinoids is proposed.