Epidermolytic Hyperkeratosis - case report
An. bras. dermatol
; 90(6): 888-891, Nov.-Dec. 2015. tab, graf
Article
en En
| LILACS
| ID: lil-769522
Biblioteca responsable:
BR1.1
ABSTRACT
Abstract Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1100.000 to 1300.000, with autosomal dominant inheritance. We report the case of a 5 year old girlwho presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of the right foot and elbows. Histological examination of the skin lesions showed typical changes of epidermolytic hyperkeratosis. Because it is an autosomal dominant disorder with complete penetrance, the individual carrying the mutation will necessarily develop the disease. However, in 50% of cases postzygotic mutation occur. The case report emphasizes early diagnosis and differential diagnoses with ichthyosis and other bullous diseases of childhood, as well as discussing the therapeutic possibilities.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
LILACS
Asunto principal:
Hiperqueratosis Epidermolítica
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
/
Screening_studies
Límite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
An. bras. dermatol
Asunto de la revista:
DERMATOLOGIA
Año:
2015
Tipo del documento:
Article
País de afiliación:
Brasil
Pais de publicación:
Brasil