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Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.
Biomarker and diagnostic research for pilodental dysplasia-refractive errors syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for pilodental dysplasia-refractive errors syndrome.
100 publications have been identified in PubMed for pilodental dysplasia-refractive errors syndrome. Research spans Review / Meta-Analysis (72%), Basic Science / Preclinical (17%), and Case Report / Case Series (3%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 62 | 72% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:08 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research
15 |
17% |
Patient case studies | 3 | 3% |
Other research | 2 | 2% |
Testing and diagnosis research | 2 | 2% |
Disease patterns and progression | 2 | 2% |
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Basic Science / Preclinical]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Agrawal R (2025). [PMID: 40200630](https://pubmed.ncbi.nlm.nih.gov/40200630/). *J Assoc Physicians India*. [Review / Meta-Analysis]
Li C (2025). [PMID: 40736845](https://pubmed.ncbi.nlm.nih.gov/40736845/). *Adv Exp Med Biol*. [Review / Meta-Analysis]
Sakuma H (2025). [PMID: 39143740](https://pubmed.ncbi.nlm.nih.gov/39143740/). *Dev Med Child Neurol*. [Review / Meta-Analysis]
Paller AS (2025). [PMID: 40184496](https://pubmed.ncbi.nlm.nih.gov/40184496/). *Br J Dermatol*. [Review / Meta-Analysis]
Krusche M (2025). [PMID: 40960635](https://pubmed.ncbi.nlm.nih.gov/40960635/). *Z Rheumatol*. [Review / Meta-Analysis]
Karuntu JS (2025). [PMID: 39733931](https://pubmed.ncbi.nlm.nih.gov/39733931/). *Prog Retin Eye Res*. [Review / Meta-Analysis]
Brokke KE (2025). [PMID: 40634186](https://pubmed.ncbi.nlm.nih.gov/40634186/). *Br J Anaesth*. [Review / Meta-Analysis]
Dotan A (2025). [PMID: 39931017](https://pubmed.ncbi.nlm.nih.gov/39931017/). *Harefuah*. [Review / Meta-Analysis]
AI-curated news mentioning pilodental dysplasia-refractive errors syndrome
Updated Feb 25, 2026
Research highlights the role of P4HA2 in the pathogenesis of refractive error through its regulation of collagen posttranslational modification and extracellular matrix balance. This discovery could inform future therapeutic strategies for vision-related disorders.