Juvenile hyaline fibromatosis

disorder

SNOMED 238861002CUI C2745948

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Fibromatosis Syndrome, Hyaline" from the MEDLINE/PubMed database.

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Hyaline Fibromatosis Syndrome Presenting with Nasal Mass: A Case Report.

[object Object], [object Object] · Ear Nose Throat J · 2025

PMID: 36219393Case Report

Recurrent Giant Subcutaneous Tumor in Juvenile Hyaline Fibromatosis.

[object Object], [object Object], [object Object] · J Craniofac Surg · 2025

PMID: 39960441Case Report

Rare case of hyaline fibromatosis syndrome.

[object Object], [object Object], [object Object] et al. · BMJ Case Rep · 2024

PMID: 39521447Case Report

Hypercalcemia as a rare presentation of hyaline fibromatosis syndrome from different Sudanese families: two case reports.

[object Object], [object Object], [object Object] et al. · J Med Case Rep · 2023

PMID: 37264371Case ReportFull text (PMC)

Converging physiological roles of the anthrax toxin receptors.

[object Object], [object Object] · F1000Res · 2019

PMID: 31448094ReviewFull text (PMC)

Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.

[object Object], [object Object], [object Object] et al. · Hum Mutat · 2018

PMID: 30176098Review

Congenital and infantile benign skin lesions affecting the hand and upper extremity, part 2: nonvascular neoplasms.

[object Object], [object Object], [object Object] et al. · J Hand Surg Am · 2013

PMID: 24206996Review

The dark sides of capillary morphogenesis gene 2.

[object Object], [object Object], [object Object] et al. · EMBO J · 2012

PMID: 22215446ReviewFull text (PMC)

Investigating the Influence ofGene Mutations on Protective Antigen Binding for Heightened Anthrax Resistance.

[object Object], [object Object], [object Object] et al. · Genes (Basel) · 2024

PMID: 38674361OtherFull text (PMC)

Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome.

[object Object], [object Object], [object Object] et al. · Turk J Pediatr · 2024

PMID: 38814306Other

Search all PubMed articles for Juvenile hyaline fibromatosis

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal hair morphology

Very frequent (80-99%)HP:0001595

Abnormal shape of shaft of long bone

Very frequent (80-99%)HP:0000940

Abnormality of the skull bones

Very frequent (80-99%)HP:0000929

Disorder of face

Very frequent (80-99%)HP:0000271

Multiple, subcutaneous nodules

Very frequent (80-99%)HP:0001482

Papules

Very frequent (80-99%)HP:0200034

Aplasia/Hypoplasia of the skin

Frequent (30-79%)HP:0008065

Open skin sore

Frequent (30-79%)HP:0200042

Abnormality of the gastrointestinal tract

Occasional (5-29%)HP:0011024

Breakdown of bone

Occasional (5-29%)HP:0002797

Gingival hyperplasia

Occasional (5-29%)HP:0000212

Hereditary gingival fibromatosis

Occasional (5-29%)HP:0000169

Muscle atrophy, neurogenic

Occasional (5-29%)HP:0003202

Progressive flexion contractures

Occasional (5-29%)HP:0005876

Stiff joint

Occasional (5-29%)HP:0001387

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of musculoskeletal system(parent)

Hyaline fibromatosis syndrome(parent)

Hereditary disorder of the integument(parent)

Benign fibromatous neoplasm of skin(parent)

Quick Facts

SNOMED CT: 238861002
UMLS CUI: C2745948
Fully Specified Name: Juvenile hyaline fibromatosis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.