Dyskeratosis congenita in an adolescent girl with associated choanal atresia.
Dyskeratosis congenita is a rare, progressive, degenerative disorder characterized by cutaneous and mucosal involvement in the first decade of life with malignant changes and bone marrow failure in the second and third decades. The primary inheritance pattern is X-linked recessive, with the majority of cases presenting in boys. We report dyskeratosis congenita in an adolescent girl with choanal atresia, a previously unreported association.
Lener
Elizabeth V
EV
Division of Pediatric and Adolescent Dermatology, Children's Hospital, San Diego, California, USA.
Tom
Wynnis L
WL
Cunningham
Bari B
BB
D000293:Adolescent; D002754:Choanal Atresia / Q000150:complications / Q000175:diagnosis*; D019871:Dyskeratosis Congenita / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans