Published online by Cambridge University Press: 18 September 2015
We studied 34 Spanish children with hypomelanosis of Ito. This disease has an incidence of 1 per 1000 new patients consulting a paediatric neurological service, or 1 per 8000-10,000 unselected patients in a children's hospital. About 94% of our patients show noncutaneous abnormalities. Mental retardation (IQ below 70) was present in 64.7%; another 14.7% had an IQ between 70 and 90, usually associated with poor school performance. Four children exhibited autistic behaviour. Seizures of various types were present in 53% of cases. Other skin alterations in addition to the typical hypomelanosis were observed in 38% of our cases: caf6-au-lait spots, angiomatous nevi, nevus marmorata, nevus of Ota, Mongolian blue spot, heterochromia of the iris or hair, and other nonspecific pigmentations. Other associated disorders occur inconsistently and include macrocephaly, microcephaly, h6mihypertrophy, kyphoscoliosis, coarse facial features, genital anomalies, inguinal hernia, congenital heart disease, hypertelorism, and abnormalities of the teeth, feet and eyes. Autosomal dominant inheritance is demonstrated in some but not all cases.
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