Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Hypohidrotic ectodermal dysplasia syndrome in a Sudanese patient: a case report.

The Pan African medical journal - 1 Jan 2025

Mukhtar Mohamed Abdullatif, Amine Ahmed Alnazear Abdalla, Muctar Sahar Abdelatif, Ibrahim Muntasir Eltayeb, Mohamed Hiba Salaheldin

Abstract excerpt

Hypohidrotic ectodermal dysplasia (HED) is a rare genodermatosis characterised by defects in the development of ectodermal tissues, primarily affecting hair, teeth, and sweat glands. It can be inherited in autosomal dominant, autosomal recessive, or X-linked patterns. Mutations in the EDA, EDAR, or EDARADD genes, which encode Ectodysplasin-A, the EDA receptor, and a death domain, respectively, are responsible for...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anodontia
Share to Ectodermal Dysplasia 1, Anhidrotic

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Ectodysplasins

Share to Genetic Testing

Share to Hypotrichosis

Share to Ichthyosis

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 42232673
DOI: 10.11604/pamj.2025.52.133.48575
PMCID: PMC13225172

Genes

EDA
EDAR
EDARADD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hypohidrotic ectodermal dysplasia syndrome in a Sudanese patient: a case report.PMID 42232673Read ↗

Hypohidrotic ectodermal dysplasiaSemantic proximity Read ↗

EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature.Semantic proximity Read ↗

A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].Semantic proximity Read ↗

Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.Semantic proximity Read ↗

A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism.Semantic proximity Read ↗

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.Semantic proximity Read ↗

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene.Semantic proximity Read ↗

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.