Advanced Search

Home > Journals > Giornale Italiano di Dermatologia e Venereologia > Past Issues > Articles online first > Giornale Italiano di Dermatologia e Venereologia 2016 Mar 22



A Journal on Dermatology and Sexually Transmitted Diseases

Official Journal of the Italian Society of Dermatology and Sexually Transmitted Diseases
Indexed/Abstracted in: EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 1,014

Frequency: Bi-Monthly

ISSN 0392-0488

Online ISSN 1827-1820


Giornale Italiano di Dermatologia e Venereologia 2016 Mar 22

Ataxia telangiectasia, menkes kinky hair disease, neurocutaneous melanosis: a review of these neurocutaneous syndromes and indications for clinical practice

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 Department of Clinical and Experimental Sciences, Section of Psychiatry and Clinical Psychology, University of Foggia, Foggia, Italy

This article examines three neurocutaneous syndromes (NCSs), genetic disorders that produce developmental abnormalities of the skin and an increased risk of neurological complications. In this review we examine different aspects of these diseases (Ataxia telangiectasia, Menkes kinky hair disease, Neurocutaneous melanosis): the clinical features, the genetic defect, the mutation spectrum, the pathogenesis, and the neurobiological basis; indications for clinical practice are provided to the reader. The goal of this review is to suggest the importance of cooperation among dermatologist, neurologist and psychiatrist, in order to provide patients suffering from these diseases with timely diagnosis and targeted treatments.

language: English


top of page