Hypomelanosis of Ito with Multiple Congenital Anomalies
Annals of Dermatology
;
: 576-580, 2019.
Artigo
em Inglês
| WPRIM
| ID: wpr-762368
ABSTRACT
Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI with multiple congenital anomalies. A 2-month-old girl presented with multiple linear and whorling hypopigmentation on the face, trunk, and both extremities and patch alopecia on the scalp. Moreover, she had conical teeth, aniridia of the both eyes, and multiple musculoskeletal problems, including syndactyly and coccyx deviation. Cytogenetic analysis on peripheral blood was normal 46, XX, and no mutation was found in IKBKG gene test.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Transtornos da Pigmentação
/
Couro Cabeludo
/
Dente
/
Aniridia
/
Aberrações Cromossômicas
/
Hipopigmentação
/
Cóccix
/
Sindactilia
/
Síndromes Neurocutâneas
/
Análise Citogenética
Limite:
Feminino
/
Humanos
/
Lactente
Idioma:
Inglês
Revista:
Annals of Dermatology
Ano de publicação:
2019
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS