All issues > Volume 35(8); 1992

Case Report

J Korean Pediatr Soc. 1992;35(8):1157-1163. Published online August 15, 1992.

A Case of Hypomelanosis of Ito Accompanying Turner Syndrome

Kyung Un KU No¹, Dong Wook DW Kim¹, Dong Joo DJ Shin¹, Hyung Ro HR Moon¹

¹Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea

Abstract

Hypomelanosis of Ito has been known to show the characteristic hypopigmentation of the skin over the trunk and the extremities following Blaschko lines, and to accompany abnormalities of the central nervous system, the skeletal system, the eye and so on. Lately, a variety of chromosomal anomalies, especially mosaicism, have been reported in association with hypomelanosis of Ito, which is believed to be an etiologically heterogeneous physical finding. Karyotyping of multiple tissuse is recommended in all patients with abnormal cutaneous pigmentation associated with developmental delay or structural malformations. We experienced a case of hypomelanosis of Ito accompanying Turner syndrome, which has never been reported so far in Korea. The patient, a 2-year-6-month-old girl, was the product of non-related parents. At 7 months of age, hypopigmentation appeared on buttock and rapidly expanded to trunk and extremities within one month. And the associated abnormalities were motor retardation, mental retardation, seizure disorder, EEG abnormality, arm and leg discrepancy, dwarfism, lymphedema, and so on. At two and a half years of age, chromosomal study revealed Turner syndrome with mosaicism, 45, X/46, X, +mar.

Keywords :Hypomelanosis of Ito, Turner syndrome, Mosaicism