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juvenile hyaline fibromatosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

juvenile hyaline fibromatosis

MONDO:0016071

Also known as:Molluscum fibrosumMurray-Puretic-Drescher syndromePuretic syndrome

Overview

Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis.

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 very common findings: Abnormality of the face, Abnormal skull morphology, Abnormal diaphysis morphology, and Subcutaneous nodule and others; and common findings: Aplasia/Hypoplasia of the skin and Skin ulcer. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	4	Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Papule

Prognosis

Phenotype severity distribution: 6 very common features, 2 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 juvenile hyaline fibromatosis.

10 publications have been identified in PubMed for juvenile hyaline fibromatosis. Research spans Case Report / Case Series (70%), Other (10%), and Review / Meta-Analysis (10%).

Research Type	Count	% of Total
Patient case studies	7	70%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2028

GARD

Genetic and Rare Diseases Info Center

GARD:16583

Questions for Your Care Team

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juvenile hyaline fibromatosis

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

juvenile hyaline fibromatosis

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications