{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T22:18:24Z","timestamp":1790979504729,"version":"4.1.0"},"reference-count":71,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2001,9,1]]},"abstract":"<jats:p>The ectodermal dysplasias (EDs) are a large and complex nosological group of diseases, first described by Thurnam in 1848. In the last 10 years more than 170 different pathological clinical conditions have been recognised and defined as EDs, all sharing in common anomalies of the hair, teeth, nails, and sweat glands. Many are associated with anomalies in other organs and systems and, in some conditions, with mental retardation.<\/jats:p>\n                  <jats:p>The anomalies affecting the epidermis and epidermal appendages are extremely variable and clinical overlap is present among the majority of EDs. Most EDs are defined by particular clinical signs (for example, eyelid adhesion in AEC syndrome, ectrodactyly in EEC). To date, few causative genes have been identified for these diseases.<\/jats:p>\n                  <jats:p>We recently reviewed genes known to be responsible for EDs in light of their molecular and biological function and proposed a new approach to EDs, integrating both molecular-genetic data and corresponding clinical findings. Based on our previous report, we now propose a clinical-genetic classification of EDs, expand it to other entities in which no causative genes have been identified based on the phenotype, and speculate on possible candidate genes suggested by associated \u201cnon-ectodermal\u201d features.<\/jats:p>","DOI":"10.1136\/jmg.38.9.579","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:37:40Z","timestamp":1027751860000},"page":"579-585","source":"Crossref","is-referenced-by-count":149,"title":["Ectodermal dysplasias: a new clinical-genetic classification"],"prefix":"10.1136","volume":"38","author":[{"given":"Manuela","family":"Priolo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmelo","family":"Lagan\u00e0","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2001,9,1]]},"reference":[{"key":"2025101710542673000_38.9.579.1","first-page":"71","article-title":"Two cases in which the skin, hair and teeth were imperfectly developed.","volume":"31","author":"Thurnam","year":"1848","journal-title":"Proc R Med Chir Soc London"},{"key":"2025101710542673000_38.9.579.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530207"},{"key":"2025101710542673000_38.9.579.3","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.580601.x"},{"key":"2025101710542673000_38.9.579.4","doi-asserted-by":"publisher","DOI":"10.1016\/0165-5876(90)90006-D"},{"key":"2025101710542673000_38.9.579.5","doi-asserted-by":"publisher","DOI":"10.1136\/adc.71.1.1"},{"key":"2025101710542673000_38.9.579.6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.11.659"},{"key":"2025101710542673000_38.9.579.7","first-page":"908","article-title":"A genetic study of anodontia in X-linked hypohidrotic ectodermal dysplasia.","volume":"32","author":"Nakata","year":"1980","journal-title":"Am J Hum Genet"},{"key":"2025101710542673000_38.9.579.8","first-page":"73","article-title":"Management of ectodermal dysplasia: a literature review.","volume":"25","author":"Dhanrajani","year":"1998","journal-title":"Dent Update"},{"key":"2025101710542673000_38.9.579.9","unstructured":"Bertolino AP Freedberg IM (1993) Disorders of epidermal appendages and related disorders. in Dermatology in general medicine. eds Fitzpatrick TB Eisen AZ Wolff K Freedberg IM Austen KF (McGraw-Hill, New York), 4th ed. pp 671\u2013696."},{"key":"2025101710542673000_38.9.579.10","unstructured":"Baden HP Kvedar JC (1993) Disorders of epidermal appendages and related disorders. in Dermatology in general medicine. eds Fitzpatrick TB Eisen AZ Wolff K Freedberg IM Austen KF (McGraw-Hill, New York), 4th ed. pp 696\u2013709."},{"key":"2025101710542673000_38.9.579.11","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.12.4.339"},{"key":"2025101710542673000_38.9.579.12","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1972.tb07415.x"},{"key":"2025101710542673000_38.9.579.13","unstructured":"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?db=OMIM."},{"key":"2025101710542673000_38.9.579.14","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.6.428"},{"key":"2025101710542673000_38.9.579.15","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(92)70249-F"},{"key":"2025101710542673000_38.9.579.16","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1980.01640360049017"},{"key":"2025101710542673000_38.9.579.17","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1970.04000080006002"},{"key":"2025101710542673000_38.9.579.18","doi-asserted-by":"publisher","DOI":"10.1086\/302239"},{"key":"2025101710542673000_38.9.579.19","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1086\/513905","article-title":"Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.","volume":"61","author":"Munoz","year":"1997","journal-title":"Am J Hum Genet"},{"key":"2025101710542673000_38.9.579.20","first-page":"405","article-title":"Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. 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