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Familial hyperphosphatemic tumoral calcinosis: A rare case report from Syria

Authors :
Balkis Al Abdulrahman
Hiba Eed
Rama Kurdy
Yazan Alwadi
Salwa Alcheikh
Source :
Clinical Case Reports, Vol 12, Iss 9, Pp n/a-n/a (2024)
Publication Year :
2024
Publisher :
Wiley, 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. 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.

Details

Language :
English
ISSN :
20500904
Volume :
12
Issue :
9
Database :
Directory of Open Access Journals
Journal :
Clinical Case Reports
Publication Type :
Academic Journal
Accession number :
edsdoj.7bf29c7730e74d3a954a3f5abb255e63
Document Type :
article
Full Text :
https://doi.org/10.1002/ccr3.9287