Mazabraud's syndrome: A case report supported by molecular studies and review of the literature

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F23%3A10464798" target="_blank" >RIV/00064203:_____/23:10464798 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/23:10464798

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=c06M4YhX0P" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=c06M4YhX0P</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.bonr.2023.101685" target="_blank" >10.1016/j.bonr.2023.101685</a>

Result language

angličtina

Original language name

Mazabraud's syndrome: A case report supported by molecular studies and review of the literature

Original language description

Mazabraud&apos;s syndrome represents rare benign disorder characterized by simultaneous occurrence of fibrous dysplasia of bone and intramuscular myxomas within surrounding soft tissue. Mutations of GNAS1 gene were proven to be causative for this condition. Here, we present a case report of a patient with unusual manifestation of this disease, who developed a pathological fracture of the femur in the setting of monostotic fibrous dysplasia. The intramuscular myxoma of the thigh was discovered during the following orthopedic operation, where the intraoperative diagnosis became a pitfall of the case, as the intramuscular myxoma was initially diagnosed as a low-grade sarcoma from the frozen section. Apart from clinical findings, the diagnosis of Mazabraud&apos;s syndrome was further proven by histopathological evaluation and molecular studies of GNAS1 gene. This case raises awareness of such condition as it can easily become a diagnostic pitfall. (C) 2023 The Authors

Czech name

—

Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30109 - Pathology

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2023

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Bone Reports [online]

ISSN

2352-1872

e-ISSN

—

Volume of the periodical

18

Issue of the periodical within the volume

June

Country of publishing house

US - UNITED STATES

Number of pages

4

Pages from-to

101685

UT code for WoS article

001009818000001

EID of the result in the Scopus database

2-s2.0-85159896269