Pili canaliculi as manifestation of giant axonal neuropathy
An. bras. dermatol
; 91(5,supl.1): 125-127, Sept.-Oct. 2016. graf
Artigo
em Inglês
| LILACS
| ID: biblio-837936
Biblioteca responsável:
BR1.1
ABSTRACT
Abstract Giant axonal neuropathy is a rare autosomal recessive neurodegenerative disease. The condition is characterized by neurons with abnormally large axons due to intracellular filament accumulation. The swollen axons affect both the peripheral and central nervous system. A 6-year old female patient had been referred to a geneticist reporting problems with walking and hypotonia. At the age of 10, she became wheelchair dependent. Scanning electron microscopy of a curly hair classified it as pili canaliculi. GAN gene sequencing demonstrated mutation c.1456G>A (p.GLU486LYS). At the age of 12, the patient died due to respiratory complications. Dermatologists should be aware of this entity since hair changes are considered suggestive of GAN.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Neuropatia Axonal Gigante
/
Doenças do Cabelo
Limite:
Criança
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
An. bras. dermatol
Assunto da revista:
Dermatologia
Ano de publicação:
2016
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Universidade Federal de Pelotas/BR