Hypomelanosis of Ito: no entity, but a cutaneous sign of mosaicism.
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.
TOMESA Clinic for Allergy, Skin, and Joint Diseases and Rheumatism, Bad Salzschlirf, Germany. kuester@fulda.net
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Küster
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König
D003937:Diagnosis, Differential; D006197:Hair / Q000254:growth & development; D006801:Humans; D007621:Karyotyping; D008543:Melanins / Q000172:deficiency; D009030:Mosaicism; D010859:Pigmentation Disorders / Q000235:genetics* / Q000473:pathology*; D012867:Skin / Q000473:pathology*; D013546:Sweating
D008543:Melanins