Multiple Epidermal Cysts in Lowe Syndrome
Annals of Dermatology
;
: 444-446, 2010.
Artigo
em Inglês
| WPRIM
| ID: wpr-122623
ABSTRACT
Lowe syndrome is a rare genetic disease that appears to cause various clinical symptoms involving the eye, nervous system, and kidney. While a mutation of the OCRL1 gene is known to be responsible for this syndrome, the exact pathophysiology remains unclear. Various multi-organ symptoms are characteristic of Lowe syndrome, but skin lesions have rarely been described. Recently, mechanisms for the association of Lowe syndrome and skin lesions have been proposed. We report this case of Lowe syndrome involving multiple epidermal cysts on the scalp in a 6-year-old male child.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Couro Cabeludo
/
Pele
/
Cisto Epidérmico
/
Olho
/
Rim
/
Sistema Nervoso
/
Síndrome Oculocerebrorrenal
Limite:
Criança
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Annals of Dermatology
Ano de publicação:
2010
Tipo de documento:
Artigo
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