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infantile digital fibromatosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

infantile digital fibromatosis

MONDO:0016039

Also known as:Reye tumorReye tumourReye's tumor

Overview

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Skin nodule; and common findings: Thickened, rough skin (hyperkeratosis), Parakeratosis, and Epidermal acanthosis. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Skin nodule, Thickened, rough skin (hyperkeratosis)

Prognosis

Phenotype severity distribution: 1 always present feature, 3 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for infantile digital fibromatosis.

5 publications have been identified in PubMed for infantile digital fibromatosis. Research spans Case Report / Case Series (60%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (20%).

Recent Publications

Romero Bravo M (2025). [PMID: 40158895](https://pubmed.ncbi.nlm.nih.gov/40158895/). *Anales de pediatria*. [Case Report / Case Series]
Chami R (2024). [PMID: 39248534](https://pubmed.ncbi.nlm.nih.gov/39248534/). *Genes, chromosomes & cancer*. [Basic Science / Preclinical]
Greco V (2024). [PMID: 38695598](https://pubmed.ncbi.nlm.nih.gov/38695598/). *Italian journal of dermatology and venereology*. [Case Report / Case Series]
Doan KD (2024). [PMID: 40759094](https://pubmed.ncbi.nlm.nih.gov/40759094/). *The American Journal of dermatopathology*. [Case Report / Case Series]
Pokorna P (2024). [PMID: 39442669](https://pubmed.ncbi.nlm.nih.gov/39442669/). *Laboratory investigation; a journal of technical methods and pathology*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 8:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:199267

GARD

Genetic and Rare Diseases Info Center

GARD:8487

Questions for Your Care Team

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infantile digital fibromatosis

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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