Normophosphatemic familial tumoral calcinosis

A rare genetic disorder characterized by abnormal calcium deposits in the body

Normophosphatemic familial tumoral calcinosis (NFTC) is a rare genetic disorder characterized by the development of calcified masses in the soft tissues of the body. Unlike other forms of tumoral calcinosis, NFTC is distinguished by normal levels of phosphate in the blood.

Pathophysiology

NFTC is caused by mutations in the SAMD9 gene, which plays a role in regulating calcium and phosphate metabolism. The disorder leads to the formation of calcium deposits in the soft tissues, particularly around the joints. These deposits can cause pain, swelling, and reduced mobility.

Clinical Presentation

Patients with NFTC typically present with firm, painless masses near the joints, such as the hips, elbows, and shoulders. These masses can vary in size and may become painful if they compress surrounding structures. Unlike other forms of tumoral calcinosis, patients with NFTC have normal serum phosphate levels.

Diagnosis

The diagnosis of NFTC is based on clinical examination, imaging studies, and genetic testing. X-rays and CT scans can reveal the extent of calcification. Genetic testing can confirm mutations in the SAMD9 gene, which are responsible for the condition.

Management

There is no specific cure for NFTC, and treatment is primarily symptomatic. Surgical removal of the calcified masses may be considered if they cause significant discomfort or functional impairment. Pain management and physical therapy can help improve mobility and quality of life.

Prognosis

The prognosis for individuals with NFTC varies. Some patients may experience recurrent calcifications after surgical removal, while others may have stable disease with minimal symptoms. Regular monitoring and supportive care are essential to manage the condition effectively.

Related pages

• Tumoral calcinosis
• Hyperphosphatemia
• Genetic disorders