Hypomelanosis of Ito with Multiple Congenital Anomalies
Annals of Dermatology
;
: 576-580, 2019.
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Troubles de la pigmentation
/
Cuir chevelu
/
Dent
/
Aniridie
/
Aberrations des chromosomes
/
Hypopigmentation
/
Coccyx
/
Syndactylie
/
Syndromes neurocutanés
/
Analyse cytogénétique
Limites du sujet:
Femelle
/
Humains
/
Bébé
langue:
Anglais
Texte intégral:
Annals of Dermatology
Année:
2019
Type:
Article
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