Published Date: March 23, 2016

Full Text Article

Ataxia telangiectasia, Menkes kinky hair disease and neurocutaneous melanosis


Authors: Stefano Caccavale, Domenico Bove, Rocco M Bove, Maddalena LA Montagna


G Ital Dermatol Venereol. 2017 Feb;152(1):58-65. doi: 10.23736/S0392-0488.16.05083-5. Epub 2016 Mar 22.

ABSTRACT

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.

PMID: 27002302DOI: 10.23736/S0392-0488.16.05083-5