Hypomelanosis of Ito
β Scribed by Mathew Samuel; S. R. Girimaji; Rita Christopher; Manjunatha
- Publisher
- Springer-Verlag
- Year
- 2000
- Tongue
- English
- Weight
- 442 KB
- Volume
- 67
- Category
- Article
- ISSN
- 0019-5456
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Hypomelanosis of Ito is a congenital neurocutaneous syndrome with a particular pattern of swirling hypopigmentation. Multiple extracutaneous abnormalities involving the central nervous system, the eyes, and musculoskeletal structures occur in over two-thirds of the cases. This report describes two p
Our finding of chromosome mosaicism with a ring 22 in a retarded black boy with hypomelanosis of Ito prompted a review of this "syndrome." Most patients have a variety of non-dermal defects, particularly those affecting CNS function. Among karyotyped patients, most are chromosome mosaics of one sort