medric medric
[닫기]
잠시만 기다려 주세요. 로딩중입니다.

Hypomelanosis of Ito with Multiple Congenital Anomalies

Annals of Dermatology 2019년 31권 5호 p.576 ~ 580
 ( Yu Da-Ae ) - Seoul National University College of Medicine Department of Dermatology

 ( Kwon Oh-Sang ) - Seoul National University College of Medicine Department of Dermatology
 ( Kim Kyu-Han ) - Seoul National University College of Medicine Department of Dermatology

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.

키워드

Congenital anomalies; Karyotype; Mosaicism; Pigmentation disorders
원문 및 링크아웃 정보
  
등재저널 정보
SCI(E)
KCI
KoreaMed
KAMS