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JOURNAL ARTICLE
REVIEW
Ataxia telangiectasia, Menkes kinky hair disease and neurocutaneous melanosis.
Giornale Italiano di Dermatologia e Venereologia : Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia 2017 Februrary
This article explores three neurocutaneous syndromes (NCSs), i.e. genetic disorders producing developmental abnormalities of the skin and an increased risk of neurological complications. In this review, different aspects of ataxia telangiectasia, Menkes kinky hair disease and neurocutaneous melanosis are examined: clinical features, genetic defect, mutation spectrum, pathogenesis, and neurobiological basis; indications for clinical practice are also provided to the readers. The aim of this review is to stress the importance of cooperation among dermatologists, neurologists and psychiatrists, in order to provide patients suffering from these diseases with timely diagnosis and targeted treatments.
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