선천성 이각화증 1예

Abstract

Dyskeratosis congenita is a rare multisystemic genodermatosis of ectodermal dysplasia, and is charaterized by the diagnostic triad consisting of reticulated hyperpigmentation, dystrophic nails, and leukoplakia. Complications such as malignancy and bone marrow involvement will be predisposition. A 44-year-old male was presented with reticulated hyperpigmentation, nail dystrophy, oral leukoplakia, mild hyperkeratosis of the palms and soles, and short stature. His brothers were presented with reticulated hyperpigmentation and nail dystrophy, and underwent a surgical operation due to oral cavity cancer. The histopathological findings taken from the reticulated lesion showed epidermal thinning and a mild inflammatory cell infiltration with melanophages in the dermis. We report a typical case of dyskeratosis congenita in a male with family history.