A Case of Dyskeratosis Congenita / 대한피부과학회지

ABSTRACT

Dyskeratosis congsnita is a rare congenital disorder characterized by the triad of reticular pigmentation of the skin. dystrophic naila, and leukoplakia of the mucous membrane, and is often associated with severe pancytopenia. A 9-year-old boy had reticular pigmentation of the skin, dystropbic changes of the finger and toe nails, white patches of the buccal mucosa, mild hyperkeratosia of the palms and soles, excesaive lacrimation, dysphagia and severe pancytopenia, Bone marrow showed hypoplastic anemia and decreased cell mediated immunity was noticed.