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Hyperphosphatemic Familial Tumoral Calcinosis
Margaret Kaszycki1, Beija Villalpando2, LaTonya Hickson3
1From the Department of Dermatology, Mayo Clinic, Jacksonville, Florida.
Southern Medical Journal
|December 2, 2024
Summary
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare genetic disorder causing ectopic calcifications. A multidisciplinary approach is crucial for diagnosing and managing HFTC, particularly when linked to GALNT3 gene mutations.
Area of Science:
- Genetics and rare diseases
- Biochemistry and metabolic disorders
Background:
- Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder.
- It involves fibroblast growth factor 23 (FGF23) pathway dysregulation, leading to hyperphosphatemia and ectopic calcifications.
- HFTC necessitates a multidisciplinary approach due to its multiorgan involvement.
Observation:
- A case study of a 34-year-old female patient with HFTC.
- The patient presented with diffuse calcinosis cutis-like features.
- Unique imaging highlighted the extensive calcinosis characteristic of HFTC.
Findings:
- Genetic testing revealed a homozygous c.1319C > A variant in the GALNT3 gene.
- This variant was predicted to cause a missense mutation (p.Ala440Glu).
- The findings confirm GALNT3 mutation as a cause of HFTC.
Implications:
- HFTC diagnosis should be considered in patients with diffuse calcinosis cutis-like features.
- A multidisciplinary evaluation is essential for comprehensive HFTC management.
- This case highlights the importance of genetic testing and imaging in HFTC.
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