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CURRENT ISSUEGIORNALE ITALIANO DI DERMATOLOGIA E VENEREOLOGIA

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 2013 February;148(1):59-64

GENODERMATOSES 

Nectinopathies: an emerging group of ectodermal dysplasia syndromes

Brancati F. 1, 2, Agolini E. 3 , Fortugno P. 4

1 Department of Medical, Oral and Biotechnological Sciences, Gabriele D’Annunzio University of Chieti-Pescara, Chieti, Italy;
2 Medical Genetics Unit, Policlinico Tor Vergata University Hospital, Rome, Italy;
3 Casa Sollievo della Sofferenza Hospital, IRCCS, Mendel Institute, Rome, Italy;
4 Dermatology Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

Cleft Lip/Palate-Ectodermal Dysplasia and Ectodermal Dysplasia-Syndactyly Syndrome are rare congenital disorders caused by recessive mutations in the PVRL1 and PVRL4 genes, respectively. These genes encode nectins 1 and 4, an emerging class of molecules acting in cooperation with cadherins to form cell-cell adhesion especially at adherens junctions. Their role in skin, hair and teeth biology and in the fine-tuning morphogenesis of craniofacial (lip/palate) and limbs is yet to be outlined prompting future research. We propose refer to these entities (nectin 1-ED and nectin 4-ED) as “nectinopathies”, which are likely to be underestimated/underdiagnosed ED syndomes.

language: English


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