Vohwinkel syndrome: ichthyosiform variant in a family



Título del documento: Vohwinkel syndrome: ichthyosiform variant in a family
Revista: Anais brasileiros de dermatologia
Base de datos: PERIÓDICA
Número de sistema: 000422044
ISSN: 0365-0596
Autors: 1
2
2
Institucions: 1Universidade Federal do Rio Grande do Sul, Programa de Pos-graduacao em Ciencias Medicas, Porto Alegre, Rio Grande do Sul. Brasil
2Universidade Federal do Rio Grande do Sul, Hospital de Clinicas de Porto Alegre, Porto Alegre, Rio Grande do Sul. Brasil
Any:
Període: Sep-Oct
Volum: 93
Número: 5
Paginació: 723-725
País: Brasil
Idioma: Inglés
Tipo de documento: Artículo
Enfoque: Caso clínico, descriptivo
Resumen en inglés Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured areas. Family evaluation revealed that his mother and other family members were affected. Based on his clinical findings and on family history, the diagnosis of the ichthyotic Vohwinkel syndrome subtype, characterized by generalized ichthyosis and palmoplantar hyperkeratosis, was established
Disciplines Medicina
Paraules clau: Dermatología,
Genética,
Enfermedades hereditarias,
Enfermedades congénitas,
Ictiosis,
Queratinocitos,
Queratodermia plantar,
Síndrome de Vohwinkel
Keyword: Dermatology,
Genetics,
Hereditary diseases,
Congenital diseases,
Ichthyosis,
Keratinocytes,
Plantar keratodermia,
Vohwinkel syndrome
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