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Cited by 197dental development and anomaliesGenetic and rare skin diseases.Hair Growth and Disorders

Ectodermal dysplasias: a new clinical-genetic classification

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Priolo, Manuela, Laganà, Carmelo·2001·Journal of Medical Genetics
DOI 10.1136/jmg.38.9.579PMC PMC1734928
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Abstract

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. 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. 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 “non-ectodermal” features.

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  • Previous ectodermal dysplasia classification systems have grouped conditions by underlying functional defect, such as abnormal developmental regulation or structural protein.

    “Classification systems for ED have been proposed that categorize the conditions within groups based on the underlying functional defect such as abnormal developmental regulation or structural protein.[Priolo and Lagana 2001]”

    From Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway. (2019) · cites this paper as Priolo and Lagana 2001

  • The other classifications being proposed use molecular knowledge as the starting point.

    “The other classifications which are being proposed [Priolo et al., 2000;Priolo and Lagan a, 2001;Lamartine, 2003;Itin and Fistarol, 2004] use molecular knowledge as the starting point.”

    From Ectodermal dysplasias: Clinical and molecular review (2009) · cites this paper as Priolo and Lagan a, 2001

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Cited by

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Authors
Priolo, M., & Laganà, C.
Affiliations
Azienda ospedaliera "Bianchi-Melacrino-Morelli" (IT)
Corresponding author
Priolo, Manuela
ORCID
Priolo, Manuela
Venue
Journal of Medical Genetics
Publisher
BMJ
Published
2001-09-01
Volume
38
Issue
9
Pages
579-585
ISSN
  • 0022-2593 (ISSN-L)
  • 1468-6244
DOI
10.1136/jmg.38.9.579
PMC
PMC1734928
OpenAlex
W1969829298
Cited by
197
References
1
Citations by year
2026: 2 · 2025: 2 · 2024: 8 · 2023: 7 · 2022: 11 · 2021: 7 · 2020: 7 · 2019: 5 · 2018: 7 · 2017: 3 · 2016: 8 · 2015: 10 · 2014: 7 · 2013: 14 · 2012: 13
FWCI
2.10
Type
journal article
Language
en
Open access
Locations
  • Journal of Medical Genetics (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
  • Health Sciences › Medicine › Urology › Hair Growth and Disorders
Keywords
ectodermal dysplasia, dental anomalies, epidermal appendages, eyelid adhesions, ectrodactyly, candidate genes
MeSH terms
Ectodermal Dysplasia, Genes, Genotype, Humans, Genetic Linkage, Terminology as Topic, Phenotype

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