ORPHA:2892
Pilodental dysplasia-refractive errors syndrome
Also known as: Euhidrotic ectodermal dysplasia · Kopysc-Barczyk-Krol syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Clinical definition (Orphanet)
Pilodental -refractive errors syndrome is a rare ectodermal 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.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Is anyone studying this?
5
5 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
5 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
1 in the last 10 years · high confidence · 9.6th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
15
Distinct author names in 5 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Barczyk K1 paper · 1985Papers in Europe PMC
- 02Fujita T1 paper · 2022
Department of Otolaryngology-Head and Neck Surgery, Kobe University Graduate School of Medicine, Kobe, Japan.
Papers in Europe PMC - 03Gal A1 paper · 2012
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Papers in Europe PMC - 04Gaurkar SP1 paper · 2013
Department of Dermatology, B. J. Medical College and Civil Hospital, Ahmedabad, Gujarat, India.
Papers in Europe PMC - 05Gupta KD1 paper · 2013Papers in Europe PMC
- 06Katsunuma S1 paper · 2022
Department of Otolaryngology, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan.
Papers in Europe PMC - 07Kopyść Z1 paper · 1985Papers in Europe PMC
- 08Król E1 paper · 1985Papers in Europe PMC
- 09Kuno S1 paper · 2022
Department of Biochemistry and Molecular Biology, Division of Molecular and Cellular Biology, Kobe University Graduate School of Medicine, Kobe, Japan.
Papers in Europe PMC - 10Lowe LH1 paper · 1997
Department of Radiology, Children's Medical Center, Dallas, TX 75235-7794, USA.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Pilodental dysplasia-refractive errors syndrome" OR "Euhidrotic ectodermal dysplasia" OR "Kopysc-Barczyk-Krol syndrome"
MeSH descriptor terms unioned into the query: Euhidrotic ectodermal dysplasia
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pilodental dysplasia-refractive errors syndrome" OR "Euhidrotic ectodermal dysplasia" OR "Kopysc-Barczyk-Krol syndrome" OR "ectodermal dysplasia syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C535763 OMIM:262020 UMLS:C1849805
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus