Korean J Dermatol.
2005 Aug;43(8):1085-1088.
A Case of Hypomelanosis of Ito with Diploid/triploid Mosaicism
- Affiliations
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- 1Department of Dermatology, Kyungpook National University School of Medicine, Daegu, Korea. nagy@knu.ac.kr
- 2Department of Dermatology, Catholic University of Daegu School of Medicine, Daegu, Korea.
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.
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