Ataxia telangiectasia, Menkes kinky hair disease and neurocutaneous melanosis

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


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.

Publication types

  • Review

MeSH terms

  • Ataxia Telangiectasia / diagnosis
  • Ataxia Telangiectasia / physiopathology*
  • Ataxia Telangiectasia / therapy
  • Cooperative Behavior
  • Humans
  • Interdisciplinary Communication
  • Melanosis / diagnosis
  • Melanosis / physiopathology*
  • Melanosis / therapy
  • Menkes Kinky Hair Syndrome / diagnosis
  • Menkes Kinky Hair Syndrome / physiopathology*
  • Menkes Kinky Hair Syndrome / therapy
  • Neurocutaneous Syndromes / diagnosis
  • Neurocutaneous Syndromes / physiopathology*
  • Neurocutaneous Syndromes / therapy

Supplementary concepts

  • Neurocutaneous melanosis