GENODERMATOSES 

Giornale Italiano di Dermatologia e Venereologia 2013 February;148(1):59-64

Copyright © 2013 EDIZIONI MINERVA MEDICA

language: English

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.