Dyskeratosis congenita with pancytopenia and horseshoe kidney.
Dyskeratosis congenita is an X-linked ectodermal dysplasia characterized by hyperpigmentation, nail dystrophy, and leukoplakia. Pancytopenia develops in 50% of patients. We have reported another case with serious pancytopenia and the previously unreported occurrence of horseshoe kidney, and have discussed the similarities and differences between dyskeratosis congenita and Fanconi's anemia.
D000293:Adolescent; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005198:Fanconi Syndrome / Q000175:diagnosis; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D009260:Nail Diseases / Q000209:etiology; D010198:Pancytopenia / Q000209:etiology*; D010859:Pigmentation Disorders / Q000209:etiology