Epidermolytic Hyperkeratosis - case report
An. bras. dermatol
;
90(6): 888-891, Nov.-Dec. 2015. tab, graf
Artículo
en Inglés
| LILACS
| ID: lil-769522
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.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Hiperqueratosis Epidermolítica
Tipo de estudio:
Estudio diagnóstico
/
Factores de riesgo
/
Estudio de tamizaje
Límite:
Child, preschool
/
Femenino
/
Humanos
Idioma:
Inglés
Revista:
An. bras. dermatol
Asunto de la revista:
Dermatologia
Año:
2015
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Hospital Heliopólis/BR
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