Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity.
Eur J Dermatol
; 30(3): 294-299, 2020 Jun 01.
Article
en En
| MEDLINE
| ID: mdl-32666929
ABSTRACT
BACKGROUND:
Annular epidermolytic ichthyosis (AEI) is a rare autosomal dominant ichthyosis that was recently described in 10 separate families in the English literature. There are no reports on the phenotypic heterogeneity of AEI.OBJECTIVES:
We investigated, for the first time, a large Chinese AEI pedigree exhibiting interfamilial phenotypic heterogeneity. MATERIALS ANDMETHODS:
We collected clinical data and DNA from the members of the family, and skin lesions were obtained from two patients with different phenotypes. Skin imaging examinations were performed. Whole-exome sequencing (WES) and Sanger sequencing were used to detect gene mutations.RESULTS:
The characteristic features of granular layer degeneration in the two biopsies were verified via histological methods. The missense mutation c.1436T > C in KRT1 was detected in all nine patients.CONCLUSION:
This study demonstrates that AEI may present with different clinical phenotypes and that mutation analysis for suspected cases is necessary to obtain a precise diagnosis.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Fenotipo
/
Hiperqueratosis Epidermolítica
/
Queratodermia Palmoplantar Epidermolítica
/
Queratina-1
Tipo de estudio:
Risk_factors_studies
Límite:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Eur J Dermatol
Asunto de la revista:
DERMATOLOGIA
Año:
2020
Tipo del documento:
Article
País de afiliación:
China