Late Onset Epidermal Nevus with Hypertrichosis and Facial Hemihypertrophy

Epidermal nevus syndromes are rare conditions, characterized by different types of keratinocytic or organoid epidermal nevi in association with ocular, neurological, and skeletal manifestations. We present a case of late onset epidermal nevus with hypertrichosis and hemihypertrophy of face. Genetic...

Descripción completa

Detalles Bibliográficos
Autores principales: Saritha, M, Chandrashekar, Laxmisha, Thappa, Devinder Mohan, Ramesh, A, Basu, Debdatta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
E-Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3969701/
https://www.ncbi.nlm.nih.gov/pubmed/24700959
http://dx.doi.org/10.4103/0019-5154.127713
Descripción
Sumario:Epidermal nevus syndromes are rare conditions, characterized by different types of keratinocytic or organoid epidermal nevi in association with ocular, neurological, and skeletal manifestations. We present a case of late onset epidermal nevus with hypertrichosis and hemihypertrophy of face. Genetic analysis did not reveal presence of FGFR3 or PIK3CA mutations. The patient has features that cannot be categorized into the present well-known syndromes.

Ejemplares similares