A case of hypomelanosis of Ito with diploid/triploid mosaicism

Yun Hwan Jang, Hyo Jin Kim, Gun Yoen Na, Weon Ju Lee, Do Won Kim, Jae Bok Jun

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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.

Original languageEnglish
Pages (from-to)1085-1088
Number of pages4
JournalKorean Journal of Dermatology
Volume43
Issue number8
StatePublished - Aug 2005

Keywords

  • Diploid/triploid mosaicism
  • Hypomelanosis of Ito

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