Living with Normophosphatemic familial tumoral calcinosis
An inherited condition in which calcium deposits form in the skin, usually beginning in infancy.
Understanding Normophosphatemic familial tumoral calcinosis
GARD lists calcium deposits in the skin (calcinosis cutis) as the main feature. It may also involve inflamed gums and pink eye. GARD lists infancy as the usual time of onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Calcium deposits in the skin (calcinosis cutis)
- Inflamed gums (gingivitis)
- Pink eye (conjunctivitis)
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.
- 3Consider genetic testing
Changes in SAMD9 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); 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 the SAMD9 gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: calcinosis, tumoral, with normophosphatemia; familial normophosphatemic tumoral calcinosis; normocalcemic tumoral calcinosis; tumoral calcinosis, familial, normophosphatemic
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 Normophosphatemic familial tumoral calcinosis.
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