Hypohidrotic ectodermal dysplasia. Clinical genetic aspects and future perspective. A short comprehensive review

Michele Callea, Andrea Avendano, Francisco Cammarata-Scalisi, Diah Ayu Maharani, Maria Francisca Lindawati Soetanto, Yasemin Yavuz

Research output: Contribution to journalArticlepeer-review

Abstract

Ectodermal dysplasias are a wide group of skin diseases characterized by defects in appendages of ectodermal origin. Patients with hypohidrotic ectodermal dysplasia, the most common type of ectodermal dysplasia, usually present the clinical triad constituted by hypodontia, hypotrichosis and hypohidrosis, caused by mutations in genes coding to components for tumor necrosis factor (TNF)-like signaling pathway. Lack of genotype-phenotype correlation and a broad genetic variability make diagnosis difficult; in order to establish the inheritance pattern and to confirm the clinical diagnosis direct sequencing and now next generation sequencing represent option for the molecular aspect. Paediatric dentists may be the first specialist to propose the diagnosis, since the observation of lack of teeth due to multiple tooth agenesis; in this review authors aim is to highlight clinical and molecular aspects of the disease underlining the dental features of the syndrome.

Original languageEnglish
Pages (from-to)397-400
Number of pages4
JournalJournal of International Dental and Medical Research
Volume10
Issue number2
Publication statusPublished - 1 Jan 2017

Keywords

  • EDA gene
  • Hypodontia
  • Hypohidrotic ectodermal dysplasia

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