Korean J Dermatol.  1988 Oct;26(5):739-743.

A Case of Dyskeratosis Congenita

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.

Keyword

Dyskeratosis congenita

MeSH Terms

Anemia, Aplastic
Bone Marrow
Child
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Deglutition Disorders
Dyskeratosis Congenita*
Fingers
Humans
Immunity, Cellular
Leukoplakia
Male
Mouth Mucosa
Mucous Membrane
Pancytopenia
Pigmentation
Skin
Toes
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