Dyskeratosis congenita in a girl simulating chronic graft-vs-host disease.
Dyskeratosis congenita (DCG) is a rare genodermatosis characterized primarily by reticular hyperpigmentation of the skin, dystrophy of the nails, and leukoplakia. It is frequently associated with Fanconi-type pancytopenia. Although DCG has a male predisposition, it has been reported in several female patients. We encountered a case of DCG occurring in a girl whose clinical features simulated chronic graft-vs-host disease (GVHD). Because DCG and chronic GVHD share several clinical and histologic features, physicians should always examine a patient for possible DCG whenever a diagnosis of chronic GVHD is considered. In addition, the similar manifestations of the two disorders suggest a similar pathogenesis on a cellular level in the immunologic system.
D000293:Adolescent; D016026:Bone Marrow Transplantation; D003937:Diagnosis, Differential; D005260:Female; D006086:Graft vs Host Disease / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D009260:Nail Diseases / Q000151:congenital / Q000175:diagnosis / Q000473:pathology; D010859:Pigmentation Disorders / Q000151:congenital / Q000175:diagnosis* / Q000473:pathology; D012871:Skin Diseases / Q000151:congenital / Q000175:diagnosis* / Q000473:pathology