Familial hyperphosphatemic tumoral calcinosis: A rare case report from Syria

Familial hyperphosphatemic tumoral calcinosis (FHTC) characterized by progressive deposition of calcium phosphate crystals in soft tissues. Tumoral calcinosis (TC) is often underdiagnosed in Syria as it cannot be confirmed without genetic testing, which is unavailable in Syria. We present the first reported case from Syria of a man with TC. This case has findings that were not reported in other cases such as testicular calcification, brain calcification, enlarged thyroid, and splenomegaly. Determining these genes in the case presented wasn't possible and future studies need to overcome this hurdle.

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Publication Details

Journal
Clinical Case Reports
Published
2024-09-01
DOI
https://doi.org/10.1002/ccr3.9287
Primary Topic
Parathyroid Disorders and Treatments
Type
article
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article

Familial hyperphosphatemic tumoral calcinosis: A rare case report from Syria

Salwa Alcheikh, Balkis Al Abdulrahman, Hiba Eed, Rama Kurdy et al.
Clinical Case Reports
Parathyroid Disorders and Treatments
article

Familial hyperphosphatemic tumoral calcinosis: A rare case report from Syria

Salwa Alcheikh, Balkis Al Abdulrahman, Hiba Eed, Rama Kurdy, Yazan Alwadi
article en

Abstract

Familial hyperphosphatemic tumoral calcinosis (FHTC) characterized by progressive deposition of calcium phosphate crystals in soft tissues. Tumoral calcinosis (TC) is often underdiagnosed in Syria as it cannot be confirmed without genetic testing, which is unavailable in Syria. We present the first reported case from Syria of a man with TC. This case has findings that were not reported in other cases such as testicular calcification, brain calcification, enlarged thyroid, and splenomegaly. Determining these genes in the case presented wasn't possible and future studies need to overcome this hurdle.

Clinical Case ReportsVol. 12(9)
Al Assad University Hospital (SY)
Good health and well-being
Openalex Percentile: Top 81%
Parathyroid Disorders and Treatments
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