A Case of Dyskeratosis Congenita.
- Author:
Dal Yong CHOI
;
Chang Jo KOH
- Publication Type:Case Report
- Keywords:
Dyskeratosis congenita
- MeSH:
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
- From:Korean Journal of Dermatology
1988;26(5):739-743
- CountryRepublic of Korea
- Language:Korean
-
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.
