Living with Hyaline fibromatosis syndrome
A genetic condition in which a clear substance builds up in the skin, joints, bones, and organs, causing skin bumps and stiff joints.
Understanding Hyaline fibromatosis syndrome
It can affect the skin, joints, bones, and internal organs. Severity ranges widely. In more severe cases, signs are present at birth or start in the first months. In milder cases, signs begin in childhood and affect fewer body systems. A main feature is noncancerous lumps (nodules) under the skin, very commonly on the scalp. Painful pearly skin bumps are also common.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Lumps under the skin (nodules)
- Pearly skin bumps
- Joint stiffness (flexion contractures)
- Joint pain
- Enlarged gums
- Diarrhea and slow weight gain
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in ANTXR2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ANTXR2 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hfs; hyalinosis, inherited systemic; hyalinosis, systemic
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hyaline fibromatosis syndrome.
Explore research for Hyaline fibromatosis syndrome
Explore actively recruiting Hyaline fibromatosis syndrome studies with HealthSpark.
Find actively recruiting studies for Hyaline fibromatosis syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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