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Giornale Italiano di Dermatologia e Venereologia 2017 February;152(1):58-65

DOI: 10.23736/S0392-0488.16.05083-5

Copyright © 2016 EDIZIONI MINERVA MEDICA

language: English

Ataxia telangiectasia, Menkes kinky hair disease and neurocutaneous melanosis

Stefano CACCAVALE 1, Domenico BOVE 1, Rocco M. BOVE 1, 2, Maddalena LA MONTAGNA 3

1 Department of Mental and Physical Health and Preventive Medicine, Second University of Naples, Naples, Italy; 2 Fusis Association for Research in Child and Adolescent Neuropsychiatry, Alvignano, Italy; 3 Section of Psychiatry and Clinical Psychology, Department of Clinical and Experimental Sciences, University of Foggia, Foggia, Italy


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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.


KEY WORDS: Ataxia telangiectasia - Menkes kinky hair syndrome - Neurocutaneous melanosis - Neurocutaneous syndromes

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