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ORPHA:2340

Keratosis follicularis spinulosa decalvans

high confidenceDisorder

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

183

63.1th percentile

Trials

0

Interventional, condition-specific

Researchers

789

Distinct authors in sample

Gene link

MBTPS2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal , facial erythema, and/or palmoplantar keratoderma.

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)

keratosis pilaris decalvans

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — MBTPS2

  2. LiteraturePresent

    183 matched papers (82 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 282 for broader category keratosis

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?

Yes — we know a specific gene responsible (MBTPS2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

183

183 papers have ever been published on this condition (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=5449) is 41.

183 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

82 in the last 10 years · high confidence · 63.1th percentile (publications denominator)

Phrase hits: 183 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

789

Distinct author names in 183 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
    Oosterwijk JC8 papers · 2010

    Clinical Genetics Center, State University Hospital, Utrecht, The Netherlands.

    Papers in Europe PMC
  2. 02
    Marini JC4 papers · 2024

    Section on Heritable Disorders of Bone and Extracellular Matrix, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  3. 03
    Oranje AP4 papers · 1992
    Papers in Europe PMC
  4. 04
    Pegg AE4 papers · 2011

    Department of Cellular and Molecular Physiology, The Pennsylvania State University College of Medicine, Hershey, PA 17033, USA. aep1@psu.edu

    Papers in Europe PMC
  5. 05
    van de Vosse E4 papers · 1997

    MGC-Department of Human Genetics, Leiden University, UK.

    Papers in Europe PMC
  6. 06
    van Osch LD4 papers · 1992

    Netherlands Ophthalmic Research Institute, Department of Ophthalmogenetics, Amsterdam.

    Papers in Europe PMC
  7. 07
    Bakker E3 papers · 2010
    Papers in Europe PMC
  8. 08
    den Dunnen JT3 papers · 2010
    Papers in Europe PMC
  9. 09
    Giunta C3 papers · 2023

    Division of Metabolism, Connective Tissue Unit and Children's Research Center, University Children's Hospital Zurich, Zurich 8032, Switzerland.

    Papers in Europe PMC
  10. 10
    Harth W3 papers · 1999

    Klinik für Hautkrankheiten, Klinikums Erfurt.

    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). 282 trials are registered for keratosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

282 interventional trials matched keratosis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: keratosis

282

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 2026-07-26

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.

"Keratosis follicularis spinulosa decalvans" OR "keratosis pilaris decalvans"

Run this search on Europe PMC

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

"Keratosis follicularis spinulosa decalvans" OR "keratosis pilaris decalvans" OR "MBTPS2" OR "keratosis pilaris atrophicans"

Recall-expansion terms: MBTPS2, keratosis pilaris atrophicans

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

Parent-category trials query:

"keratosis"

Query health: suspect — strategies attempted: phrase, 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

Ingested 2026-07-26T19:55:09.332Z