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Am J Med Genet. 1999 Aug 6;85(4):346-50.

Hypomelanosis of Ito: no entity, but a cutaneous sign of mosaicism.

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TOMESA Clinic for Allergy, Skin, and Joint Diseases and Rheumatism, Bad Salzschlirf, Germany.


Hypomelanosis of Ito is a neurocutaneous phenotype comprising pigmentary anomalies, neurological defects, structural malformations, and chromosomal abnormalities. It has been described as a distinct multisystem birth defect or, more specifically, as a neurocutaneous syndrome. The main purpose of this study is to provide evidence that this disorder does not exist as a syndrome. Rather, it is a causally nonspecific pigmentary disorder caused by genetic mosaicism.

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