A Case of Hypomelanosis of Ito with Diploid/triploid Mosaicism.
- Author:
Yun Hwan JANG
1
;
Hyo Jin KIM
;
Gun Yoen NA
;
Weon Ju LEE
;
Do Won KIM
;
Jae Bok JUN
Author Information
1. Department of Dermatology, Kyungpook National University School of Medicine, Daegu, Korea. nagy@knu.ac.kr
- Publication Type:Case Report
- Keywords:
Hypomelanosis of Ito;
Diploid/triploid mosaicism
- MeSH:
Central Nervous System;
Child;
Chromosome Aberrations;
Female;
Humans;
Hypopigmentation*;
Mosaicism*;
Musculoskeletal System;
Pigmentation Disorders
- From:Korean Journal of Dermatology
2005;43(8):1085-1088
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Hypomelanosis of Ito was first described by Ito in 1952 as incontinentia pigmenti achromians. The consistent feature of the disease is a characteristic cutaneous hypopigmentation following the lines of Blaschko, and associated extracutaneous manifestations include anomalies of the central nervous system, eye and musculoskeletal system. It is a sporadic condition and more than half of patients are found to have chromosomal abnormalities, such as mosaicism. It has been suggested that hypomelanosis of Ito is not a single condition, but rather a nonspecific manifestation of chromosomal mosaicism. We report a case of a 6 year-old girl with hypomelanosis of Ito with diploid/triploid mosaicism (46, XX/69, XXX). She did not show any other extracutaneous symptoms, except a mild developmental delay. Hypopigmented lesions showed a gradual improvement but new hyperpigmented, brownish macules developed within hypopigmented lesions without any treatment.
