Dyskeratosis congenita: a case report.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod
; 108(2): e20-4, 2009 Aug.
Article
em En
| MEDLINE
| ID: mdl-19615640
ABSTRACT
Dyskeratosis congenita (DC) is a rare inherited condition, first described in 1960 as Zinsser-Engmann-Cole syndrome. The condition presents with a classic triad nail dystrophy, reticulate skin pigmentation over the trunk and neck, and white plaques typically in the oral cavity. White plaques may also affect, although less frequently, the mucosal surfaces of the urethra and vagina. Variable somatic abnormalities may be present; these include pulmonary, gastrointestinal, genitourinary, cerebral, and dental complications. Pancytopenia eventually develops, progressing to bone marrow failure; the most common cause of death. In the X-linked form, which affects mainly males, mutations arise in the DKC-1 gene which encodes for the protein dyskerin. This report details a variant case of DC affecting a 9-year-old boy. The disease progression did not follow the "classic triad" typically seen in the condition. Longstanding nail dystrophy and oral ulceration were the sole presenting features. The details of the challenges encountered during diagnosis and treatment are further discussed.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Úlceras Orais
/
Disceratose Congênita
/
Doenças da Unha
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Oral Surg Oral Med Oral Pathol Oral Radiol Endod
Assunto da revista:
ODONTOLOGIA
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Reino Unido