Overview
Familial normophosphatemic tumoral calcinosis is a rare inherited condition in which large deposits of calcium form in the soft tissues of the body, especially around joints. Unlike other forms of tumoral calcinosis, the phosphate levels in the blood remain normal (hence the term 'normophosphatemic'). The calcium deposits, sometimes called calcinotic masses, tend to appear around the hips, shoulders, elbows, knees, and other joints. These masses can grow quite large and may cause pain, limit movement, and sometimes break through the skin, leading to drainage of a chalky white material. The condition typically begins in childhood or adolescence and tends to worsen over time as more calcium deposits develop. The disease is caused by genetic changes that affect how the body handles calcium in tissues. Because phosphate levels are normal, this condition is distinct from the more common hyperphosphatemic tumoral calcinosis, which involves elevated blood phosphate. Treatment is mainly focused on managing symptoms. Surgical removal of the calcium masses is the most common approach, but deposits frequently come back after surgery. There is no widely accepted medication that reliably prevents new deposits from forming. Some patients may benefit from medications that reduce inflammation or calcium deposition, but results vary. Ongoing research aims to better understand the underlying mechanisms and develop more effective therapies.
Key symptoms:
Large firm lumps around jointsPainful swelling near hips, shoulders, elbows, or kneesLimited range of motion in affected jointsChalky white discharge draining from skin over calcium depositsSkin breakdown or ulceration over the lumpsRecurrent infections at sites where deposits break through the skinDifficulty walking or moving affected limbsStiffness around jointsCosmetic disfigurement from large massesNormal blood phosphate levels despite calcium deposits
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 normophosphatemic tumoral calcinosis.
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Specialists
View all specialists →No specialists are currently listed for Familial normophosphatemic tumoral calcinosis.
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 normophosphatemic tumoral calcinosis.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How can we tell if this is normophosphatemic tumoral calcinosis versus other types?,Should my family members be tested for the SAMD9 gene mutation?,When is surgery recommended, and how likely are the deposits to come back?,Are there any medications that might slow down the formation of new calcium deposits?,What physical therapy or exercises can help maintain joint movement?,How should we care for wounds if a deposit breaks through the skin?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Familial normophosphatemic tumoral calcinosis
What is Familial normophosphatemic tumoral calcinosis?
Familial normophosphatemic tumoral calcinosis is a rare inherited condition in which large deposits of calcium form in the soft tissues of the body, especially around joints. Unlike other forms of tumoral calcinosis, the phosphate levels in the blood remain normal (hence the term 'normophosphatemic'). The calcium deposits, sometimes called calcinotic masses, tend to appear around the hips, shoulders, elbows, knees, and other joints. These masses can grow quite large and may cause pain, limit movement, and sometimes break through the skin, leading to drainage of a chalky white material. The con
How is Familial normophosphatemic tumoral calcinosis inherited?
Familial normophosphatemic tumoral calcinosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial normophosphatemic tumoral calcinosis typically begin?
Typical onset of Familial normophosphatemic tumoral calcinosis is childhood. Age of onset can vary across affected individuals.