Disqueratose Congénita
A disqueratose congénita (DC) é uma displasia ectodérmica rara que se apresenta frequentemente com a tríade clássica de displasia das unhas, alterações pigmentares da pele e leucoplasia oral, associada a um elevado risco de insuficiência medular (IM) e de cancro.
Também conhecida como
DC; DKC; Hoyeraal-Hreidarsson syndrome; Zinsser Cole Engman syndrome
Inclui 20 subtipos relacionados ↓Ocultar subtipos ↑
- autosomal recessive dyskeratosis congenita 4
- DKC1-related disorder
- dyskeratosis congenita and related telomere biology disorder
- dyskeratosis congenita, autosomal dominant 1
- dyskeratosis congenita, autosomal dominant 2
- dyskeratosis congenita, autosomal dominant 3
- dyskeratosis congenita, autosomal dominant 4
- dyskeratosis congenita, autosomal dominant 6
- dyskeratosis congenita, autosomal recessive 1
- dyskeratosis congenita, autosomal recessive 2
- dyskeratosis congenita, autosomal recessive 3
- dyskeratosis congenita, autosomal recessive 5
- dyskeratosis congenita, autosomal recessive 6
- dyskeratosis congenita, autosomal recessive 7
- dyskeratosis congenita, autosomal recessive 8
- dyskeratosis congenita, digenic
- dyskeratosis congenita, X-linked
- Hoyeraal-Hreidarsson syndrome
- pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
- Revesz syndrome
