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Familial hyperphosphatemic tumoral calcinosis: A rare case report from Syria.

Authors :
Al Abdulrahman, Balkis
Eed, Hiba
Kurdy, Rama
Alwadi, Yazan
Alcheikh, Salwa
Source :
Clinical Case Reports. Sep2024, Vol. 12 Issue 9, p1-5. 5p.
Publication Year :
2024

Abstract

Key Clinical Message: Tumoral calcinosis is a very rare disease mainly caused by a disturbance in phosphate metabolism. It is advisable to contemplate screening more organs such as testes, thyroid, and spleen in patients with TC. This study provides insight into tumoral calcinosis for physicians in the region and encourages future work on the matter. 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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
20500904
Volume :
12
Issue :
9
Database :
Academic Search Index
Journal :
Clinical Case Reports
Publication Type :
Academic Journal
Accession number :
179789901
Full Text :
https://doi.org/10.1002/ccr3.9287