RESUMEN
Abstract: Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, 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.
Asunto(s)
Preescolar , Femenino , Humanos , Hiperqueratosis Epidermolítica/patología , Diagnóstico Diferencial , Hiperqueratosis Epidermolítica/terapia , Ictiosis/patología , Enfermedades Cutáneas Vesiculoampollosas/patología , Piel/patologíaRESUMEN
Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girl who 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.
Asunto(s)
Hiperqueratosis Epidermolítica/patología , Preescolar , Diagnóstico Diferencial , Femenino , Humanos , Hiperqueratosis Epidermolítica/terapia , Ictiosis/patología , Piel/patología , Enfermedades Cutáneas Vesiculoampollosas/patologíaRESUMEN
Chediak-Higashi syndrome is characterized by varying degrees of oculocutaneous albinism, recurrent infections, bleeding disorders and variable neurological involvement. The treatment consists of bone marrow transplantation, which corrects the immunologic and hematologic defects. Untreated patients die as the result of bacterial infections or develop "accelerated phase" lymphoproliferation. We present a case of Chediak-Higashi syndrome and discuss the clinical and laboratorial features that determine its diagnosis.
