Cutaneous mosaicism, in KRT1 pI479T patient, caused by the somatic loss of the wild-type allele, leads to the increase in local severity of the disease.
J Eur Acad Dermatol Venereol
; 30(5): 847-51, 2016 May.
Article
en En
| MEDLINE
| ID: mdl-25904304
ABSTRACT
BACKGROUND:
Epidermolytic ichthyosis (BCIE, OMIM 113800), is an autosomal dominant disorder of the skin caused by mutations in keratin genes KRT1 and KRT10. We present two sporadic patients showing a mild diffuse ichthyosis with palmoplantar keratoderma. Interestingly, one of them shows a significant hyperkeratosis of palms and soles similar to those present in the Meleda disease (OMIM 248300).OBJECTIVE:
In this paper we would clarify the genetic difference between the two patients, giving rise to the different phenotype.METHODS:
Clinical evaluation, followed by histological and molecular analysis has been established for these patients.RESULTS:
We demonstrated the presence of a genetic cutaneous mosaicism. Both patients carry the KRT1 pI479T substitution, but in the palmoplantar areas of one of them, only the mutated allele is expressed (hemizygous). This leads to highlight a new type of cutaneous mosaic, the palmoplantar mosaicism.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades de la Piel
/
Alelos
/
Queratina-1
/
Mosaicismo
Límite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
J Eur Acad Dermatol Venereol
Asunto de la revista:
DERMATOLOGIA
/
DOENCAS SEXUALMENTE TRANSMISSIVEIS
Año:
2016
Tipo del documento:
Article
País de afiliación:
Italia