Overview
Familial tumoral calcinosis (also called hyperphosphatemic familial tumoral calcinosis, or HFTC) is a rare inherited condition where calcium and phosphate build up abnormally in the body's soft tissues — especially around the joints. Instead of staying in bones where they belong, these minerals form large, hard lumps called calcifications or 'tumoral' deposits. Despite the word 'tumoral,' these lumps are not cancerous. They most often appear around the hips, shoulders, elbows, and other large joints, and can grow quite large over time. The root cause is a problem with how the body controls phosphate levels in the blood. Normally, a hormone called FGF23 tells the kidneys to remove extra phosphate. In familial tumoral calcinosis, this signaling system is broken — either FGF23 is not made properly, is broken down too fast, or the body cannot respond to it. This leads to high phosphate levels in the blood (hyperphosphatemia), which then causes calcium-phosphate crystals to deposit in soft tissues. Symptoms usually begin in childhood or early adulthood with painful, swollen lumps near joints that can limit movement. Skin ulcers, eye problems, and dental abnormalities can also occur. Treatment focuses on lowering phosphate levels through diet and medications, and sometimes surgery to remove large deposits. There is currently no cure, but careful management can reduce symptoms and slow the disease.
Key symptoms:
Large, hard calcium deposits (lumps) under the skin near jointsPain and swelling around the hips, shoulders, elbows, or kneesLimited joint movement due to calcium depositsSkin ulcers or open sores if deposits break through the skinMilky or chalky fluid draining from skin ulcersEye problems such as calcium deposits in the eye (angioid streaks or conjunctival calcifications)Dental abnormalities including short, misshapen teethHigh phosphate levels in the blood (found on blood tests)Bone pain or abnormal bone densityRecurrent infections around skin ulcersFatigue and reduced ability to exerciseVascular calcifications (calcium in blood vessel walls) in some cases
Clinical phenotype terms (18)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Familial tumoral calcinosis.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Familial tumoral calcinosis.
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Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.Which gene mutation do I have, and what does that mean for my specific type of familial tumoral calcinosis?,What phosphate level should I be aiming for, and how often should I have blood tests?,Which phosphate binder is best for me, and are there side effects I should watch for?,Should my parents, siblings, or children be tested for this condition?,When should we consider surgery for a calcium deposit, and what are the risks of it coming back?,Are there any clinical trials or new treatments I should know about?,What foods should I avoid, and can I work with a dietitian who has experience with this condition?
Common questions about Familial tumoral calcinosis
What is Familial tumoral calcinosis?
Familial tumoral calcinosis (also called hyperphosphatemic familial tumoral calcinosis, or HFTC) is a rare inherited condition where calcium and phosphate build up abnormally in the body's soft tissues — especially around the joints. Instead of staying in bones where they belong, these minerals form large, hard lumps called calcifications or 'tumoral' deposits. Despite the word 'tumoral,' these lumps are not cancerous. They most often appear around the hips, shoulders, elbows, and other large joints, and can grow quite large over time. The root cause is a problem with how the body controls ph
How is Familial tumoral calcinosis inherited?
Familial tumoral calcinosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial tumoral calcinosis typically begin?
Typical onset of Familial tumoral calcinosis is childhood. Age of onset can vary across affected individuals.
Which specialists treat Familial tumoral calcinosis?
1 specialists and care centers treating Familial tumoral calcinosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.