Familial hyperphosphatemic tumoral calcinosis: A rare case report from Syria

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 t...

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Main Authors: Balkis Al Abdulrahman, Hiba Eed, Rama Kurdy, Yazan Alwadi, Salwa Alcheikh
Format: Article
Language:English
Published: Wiley 2024-09-01
Series:Clinical Case Reports
Subjects:
Online Access:https://doi.org/10.1002/ccr3.9287
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author Balkis Al Abdulrahman
Hiba Eed
Rama Kurdy
Yazan Alwadi
Salwa Alcheikh
author_facet Balkis Al Abdulrahman
Hiba Eed
Rama Kurdy
Yazan Alwadi
Salwa Alcheikh
author_sort Balkis Al Abdulrahman
collection DOAJ
description 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.
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institution Kabale University
issn 2050-0904
language English
publishDate 2024-09-01
publisher Wiley
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series Clinical Case Reports
spelling doaj-art-7bf29c7730e74d3a954a3f5abb255e632024-12-12T10:13:46ZengWileyClinical Case Reports2050-09042024-09-01129n/an/a10.1002/ccr3.9287Familial hyperphosphatemic tumoral calcinosis: A rare case report from SyriaBalkis Al Abdulrahman0Hiba Eed1Rama Kurdy2Yazan Alwadi3Salwa Alcheikh4Department of Rheumatology Al‐AsaadUniversiry Hospital Damascus SyriaDepartment of Rheumatology Al‐AsaadUniversiry Hospital Damascus SyriaDepartment of Internal medicine Al‐AsaadUniversiry Hospital Damascus SyriaDepartment of Cardiology Al‐Asaad University Hospital Damascus SyriaDepartment of Rheumatology Al‐AsaadUniversiry Hospital Damascus SyriaKey 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.https://doi.org/10.1002/ccr3.9287hyperphosphatemic tumoral calcinosisphosphatesplenomegalytesticular calcificationtumoral calcinosis
spellingShingle Balkis Al Abdulrahman
Hiba Eed
Rama Kurdy
Yazan Alwadi
Salwa Alcheikh
Familial hyperphosphatemic tumoral calcinosis: A rare case report from Syria
Clinical Case Reports
hyperphosphatemic tumoral calcinosis
phosphate
splenomegaly
testicular calcification
tumoral calcinosis
title Familial hyperphosphatemic tumoral calcinosis: A rare case report from Syria
title_full Familial hyperphosphatemic tumoral calcinosis: A rare case report from Syria
title_fullStr Familial hyperphosphatemic tumoral calcinosis: A rare case report from Syria
title_full_unstemmed Familial hyperphosphatemic tumoral calcinosis: A rare case report from Syria
title_short Familial hyperphosphatemic tumoral calcinosis: A rare case report from Syria
title_sort familial hyperphosphatemic tumoral calcinosis a rare case report from syria
topic hyperphosphatemic tumoral calcinosis
phosphate
splenomegaly
testicular calcification
tumoral calcinosis
url https://doi.org/10.1002/ccr3.9287
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AT hibaeed familialhyperphosphatemictumoralcalcinosisararecasereportfromsyria
AT ramakurdy familialhyperphosphatemictumoralcalcinosisararecasereportfromsyria
AT yazanalwadi familialhyperphosphatemictumoralcalcinosisararecasereportfromsyria
AT salwaalcheikh familialhyperphosphatemictumoralcalcinosisararecasereportfromsyria