Dyskeratosis congenita: hematologic evaluation of a sibship and review of the literature.
Dyskeratosis congenita is a rare genodermatosis whose hematologic complications include pancytopenia of variable time of onset, a propensity for opportunistic infections, and neoplasia. A family in which the disorder segregated in 3 generations and involved 9 members is reported, and the hematologic data of the 46 previously reported cases are reviewed.
D000328:Adult; D000469:Alkaline Phosphatase / Q000097:blood; D001777:Blood Coagulation; D001853:Bone Marrow / Q000473:pathology; D005319:Fetal Hemoglobin; D005492:Folic Acid / Q000097:blood; D006801:Humans; D007642:Keratosis / Q000097:blood / Q000151:congenital* / Q000276:immunology; D007971:Leukoplakia / Q000151:congenital*; D008297:Male; D009262:Nails; D010198:Pancytopenia / Q000150:complications*; D010375:Pedigree; D010859:Pigmentation Disorders / Q000150:complications; D012871:Skin Diseases / Q000151:congenital*; D014805:Vitamin B 12 / Q000097:blood
D005319:Fetal Hemoglobin; D005492:Folic Acid; D000469:Alkaline Phosphatase; D014805:Vitamin B 12