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Article

The first report of hypohidrotic ectodermal dysplasia caused by a novel mutation and accompanied with pathological femoral neck fracture: A case report.

Medicine - 14 Aug 2026

Liang Guang-Hua, Meng Xiang-Ning, Juma Talante, Cao Yong-Ping, Zhang Dao-Jian

Abstract excerpt

RATIONALE: Hypohidrotic ectodermal dysplasia (HED) is a rare inherited disorder characterized by hypohidrosis, hypotrichosis, and hypodontia. Most cases are caused by mutations in the EDA signaling pathway, whereas TP63-related HED is extremely rare. To our knowledge, this is the first reported case of HED caused by a novel TP63 mutation presenting with a pathological femoral neck fracture. PATIENT CONCERNS: A...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42601715
DOI: 10.1097/MD.0000000000050191
PMCID: PMC13480871

Genes

TP63
EDA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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