Hypomelanosis of Ito with Multiple Congenital Anomalies

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 a...

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Detalles Bibliográficos
Autores principales: Yu, Da-Ae, Kwon, Ohsang, Kim, Kyu Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Dermatological Association; The Korean Society for Investigative Dermatology 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7992565/
https://www.ncbi.nlm.nih.gov/pubmed/33911653
http://dx.doi.org/10.5021/ad.2019.31.5.576
Descripción
Sumario: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.

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