Living with Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
A rare inherited condition with hard calcium lumps in and under the skin, usually near big joints.
Understanding Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
The lumps are usually next to large joints such as the hips, shoulders, and elbows. It can occur with high phosphate levels in the blood or normal levels, depending on the gene change involved.
Signs & symptoms
GARD describes this feature in its summary:
- Hard calcium lumps in or under the skin
- Lumps near large joints (hips, shoulders, elbows)
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, cancer specialists, genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Cancer specialists (oncologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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 Children's Skin Disease Foundation
- 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 genes cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent. GARD does not name the gene.
Also known as: cortical hyperostosis with hyperphosphatemia; familial teutschlaender disease; hftc; hypercalcemic tumoral calcinosis; hyperostosis with hyperphosphatemia; hyperphosphatemia hyperostosis
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome.
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