ORPHA:199267
Infantile digital fibromatosis
Also known as: Inclusion body fibromatosis · Recurring digital fibrous tumor of childhood · Reye tumor
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
284
64.9th percentile
Trials
0
Interventional, condition-specific
Researchers
930
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, benign, superficial fibromatosis characterized by firm, pinkish to flesh-colored, solitary or multiple nodular growths, typically less than 2 cm in size. They occur on the dorsal or lateral aspect of fingers and toes and have a tendency to recur. Histology reveals bland intradermal spindle cells with spherical perinuclear inclusion bodies.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016039
- UMLS:C1318562
- NCIT:C3456
Additional Mondo synonyms (11)
Reye tumour · Reye's tumor · Reye's tumour · digital fibrous tumor of Reye · digital fibrous tumour of Reye · inclusion body fibromatosis · inclusion body fibromatosis (disease) · infantile digital fibroma/fibromatosis · infantile digital fibromatosis · recurring digital fibrous tumor of childhood · recurring digital fibrous tumour of childhood
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.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
284 matched papers (91 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 29 for broader category fibromatosis
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
284
284 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.
284 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).
91 in the last 10 years · medium confidence · 64.9th percentile (publications denominator)
Phrase hits: 284 · MeSH hits: 0
Who's working on it?
930
Distinct author names in 200 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.
- 01Choi JH4 papers · 2026
Department of Plastic and Reconstructive Surgery, Chonnam National University Medical School, Gwangju, Korea.
Papers in Europe PMC - 02Hata J3 papers · 1994Papers in Europe PMC
- 03Iwasaki H3 papers · 1983Papers in Europe PMC
- 04Kikuchi M3 papers · 1983Papers in Europe PMC
- 05Kumar P3 papers · 2023
Department of Dermatology, Katihar Medical College and Hospital, Katihar, India.
Papers in Europe PMC - 06Lee JH3 papers · 2012Papers in Europe PMC
- 07Mori R3 papers · 1983Papers in Europe PMC
- 08Mukai M3 papers · 1994
Division of Surgical Pathology, Keio University Hospital, Japan.
Papers in Europe PMC - 09Agarwal H2 papers · 2020
Department of Pathology, Chacha Nehru Bal Chikitsalaya, New Delhi, India.
Papers in Europe PMC - 10Albtoush OM2 papers · 2025
Department of Radiology, University of Jordan, Ammam, Jordan.
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). 29 trials are registered for fibromatosis, 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.
medium 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.
29 interventional trials matched fibromatosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: fibromatosis
29
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
- NCT04851119·RECRUITING·Tegavivint for the Treatment of Recurrent or Refractory Solid Tumors, Including Lymphomas and Desmoid Tumors
Conditions: Colorectal Carcinoma · Endometrial Carcinoma · Melanoma · Neuroblastoma·Matched via name phrase
- NCT07443371·NOT YET RECRUITING·Effect of Transfer Energy Capacitive and Resistive Therapy on Palmar Fibromatosis
Conditions: Palmar Fibromatosis·Matched via name phrase
- NCT07176689·RECRUITING·Nirogacestat in Premenopausal Females With Desmoid Tumor/Aggressive Fibromatosis (DT/AF)
Conditions: Desmoid Tumor · Aggressive Fibromatosis·Matched via name phrase
- NCT06355921·NOT YET RECRUITING·A Prospective Clinical Study on the Safety and Efficacy of Radiofrequency Ablation for the Treatment of Patients With Desmoid Tumors
Conditions: Desmoid Tumor · Desmoid Fibromatosis · Desmoid·Matched via name phrase
- NCT05500391·RECRUITING·Assessment of Compliance With Monitoring Conducted by a Physician in Person or by a Nurse in Remote Monitoring
Conditions: Stage I Testicular Seminoma · Stage I Testicular Nonseminomatous Germ Cell Tumor · Gastrointestinal Stromal Tumors · Ovarian Germ Cell Tumor·Matched via name phrase
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 on the overview but are not added to the query string.
"Infantile digital fibromatosis" OR "Inclusion body fibromatosis" OR "Recurring digital fibrous tumor of childhood" OR "Recurring digital fibrous tumor of the childhood" OR "Reye tumor" OR "Reye tumour" OR "Reye's tumor" OR "Reye's tumour" OR "digital fibrous tumor of Reye" OR "digital fibrous tumor of the Reye" OR "digital fibrous tumour of Reye" OR "digital fibrous tumour of the Reye" OR "inclusion body fibromatosis (disease)" OR "infantile digital fibroma/fibromatosis" OR "recurring digital fibrous tumour of childhood" OR "recurring digital fibrous tumour of the childhood"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Infantile digital fibromatosis" OR "Inclusion body fibromatosis" OR "Recurring digital fibrous tumor of childhood" OR "Recurring digital fibrous tumor of the childhood" OR "Reye tumor" OR "Reye tumour" OR "Reye's tumor" OR "Reye's tumour" OR "digital fibrous tumor of Reye" OR "digital fibrous tumor of the Reye" OR "digital fibrous tumour of Reye" OR "digital fibrous tumour of the Reye" OR "inclusion body fibromatosis (disease)" OR "infantile digital fibroma/fibromatosis" OR "recurring digital fibrous tumour of childhood" OR "recurring digital fibrous tumour of the childhood" OR "superficial Fibromatosis"
Recall-expansion terms: superficial Fibromatosis
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"fibromatosis"
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
- Publication count (284) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T09:09:56.202Z