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Pure hair and nail ectodermal dysplasia is characterized by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for pure hair and nail ectodermal dysplasia.
3 publications have been identified in PubMed for pure hair and nail ectodermal dysplasia. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).
Sharma A (2026). [PMID: 41714886](https://pubmed.ncbi.nlm.nih.gov/41714886/). *Pediatric dermatology*. [Case Report / Case Series]
Ahmadkhani A (2026). [PMID: 41486137](https://pubmed.ncbi.nlm.nih.gov/41486137/). *Journal of medical case reports*. [Case Report / Case Series]
Clowes V (2024). [PMID: 40225922](https://pubmed.ncbi.nlm.nih.gov/40225922/). *Human mutation*. [Basic Science / Preclinical]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center