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ORPHA:384

Huriez syndrome

low confidenceDisorder

Also known as: Palmoplantar hyperkeratosis-sclerodactyly syndrome · Palmoplantar keratoderma-sclerodactyly syndrome · Scleroatrophic syndrome · Sclerotylosis

Publications

806

Trials

0

Interventional, condition-specific

Researchers

379

Distinct authors in sample

Gene link

SMARCAD1

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic skin disease characterized by the triad of scleroatrophy predominantly of the hands with sclerodactyly, palmoplantar keratoderma, and nail changes (consisting of hypoplasia, ridging, clubbing, and white discoloration). Additional features include palmar hypohidrosis and a high susceptibility to early-onset squamous cell carcinoma of affected skin areas.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

palmoplantar hyperkeratosis-sclerodactyly syndrome

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Moderate — SMARCAD1

  2. LiteraturePresent

    806 matched papers (586 in last 10 years) Source

  3. Phenotype characterisedPresent

    14 HPO annotations (e.g. Small nail; Squamous cell carcinoma of the skin; Epidermal acanthosis) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Probably — there is moderate evidence for SMARCAD1.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

14

Associated phenotypes · MONDO:0008416

  • Small nail
  • Squamous cell carcinoma of the skin
  • Epidermal acanthosis
  • Nail dystrophy
  • Congenital palmoplantar hyperkeratosis

Showing 5 of 14 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

806

806 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

806 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

586 in the last 10 years · low confidence

Phrase hits: 77 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

379

Distinct author names in 77 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.

  1. 01
    McKusick VA6 papers · 1994

    T he J ohns H opkins H ospital B altimore , MD 21205

    Papers in Europe PMC
  2. 02
    Pagnotta A4 papers · 2025

    Hand and Microsurgery Unit, Jewish Hospital, Via Fulda 14, Rome 00148, Italy.

    Papers in Europe PMC
  3. 03
    Ribuffo D4 papers · 2025

    Department of Plastic Reconstructive and Aesthetic Surgery, Policlinico Umberto I, Sapienza University of Rome, Viale del Policlinico155, 00161 Rome, Italy.

    Papers in Europe PMC
  4. 04
    Delaporte E3 papers · 2018

    Service de Dermatologie A, Hôpital Claude Huriez, CHRU, Lille, France.

    Papers in Europe PMC
  5. 05
    Lo Torto F3 papers · 2025

    Department of Plastic Reconstructive and Aesthetic Surgery, Policlinico Umberto I, Sapienza University of Rome, Viale del Policlinico155, 00161 Rome, Italy.

    Papers in Europe PMC
  6. 06
    Amberger JS2 papers · 1994
    Papers in Europe PMC
  7. 07
    Carney TJ2 papers · 2022

    Institute of Molecular and Cellular Biology (IMCB), A*STAR (Agency for Science, Technology and Research), 61 Biopolis Drive, Proteos, 138673, Singapore.

    Papers in Europe PMC
  8. 08
    Didona B2 papers · 2022

    Rare Skin Disease Center, Istituto Dermopatico Dell'Immacolata, IDI-IRCCS, Rome, Italy.

    Papers in Europe PMC
  9. 09
    Foti R2 papers · 2021

    U.O. Dermatologia, Ospedale San Marco, 95123 Catania, Italy.

    Papers in Europe PMC
  10. 10
    Gilliam TC2 papers · 1987
    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

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 — people publishing on this disease are often the practical next contact when no trial is listed.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (2)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Huriez syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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 on the overview but are not added to the query string.

("Huriez syndrome" OR "Palmoplantar hyperkeratosis-sclerodactyly syndrome" OR "Palmoplantar keratoderma-sclerodactyly syndrome" OR "Scleroatrophic syndrome" OR "Sclerotylosis") OR ("SMARCAD1" OR "SMARCAD1 syndrome" OR "SMARCAD1-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Huriez syndrome" OR "Palmoplantar hyperkeratosis-sclerodactyly syndrome" OR "Palmoplantar keratoderma-sclerodactyly syndrome" OR "Scleroatrophic syndrome" OR "Sclerotylosis"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (806) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T13:39:21.686Z