Epidermolytic Hyperkeratosis - case report
An. bras. dermatol
; An. bras. dermatol;90(6): 888-891, Nov.-Dec. 2015. tab, graf
Article
em En
| LILACS
| ID: lil-769522
Biblioteca responsável:
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Hiperceratose Epidermolítica
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
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Screening_studies
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
An. bras. dermatol
Assunto da revista:
DERMATOLOGIA
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Brasil