An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report

被引：0

作者：

Saeed, Shahzeb ^{[1
]}

Naveed, Husnain ^{[2
]}

Maktabijahromi, Niloufar ^{[3
]}

Mohammed, Norhan ^{[4
]}

Rehman, Abdur ^{[5
]}

机构：

[1] Army Med Coll, Internal Med, Rawalpindi, Pakistan

[2] Shifa Tameer Emillat Univ, Internal Med, Shifa Coll Med, Islamabad, Pakistan

[3] St Georges Univ, Family Med, Sch Med, St Georges, Grenada

[4] St Georges Univ, Pediat, Sch Med, St Georges, Grenada

[5] Mayo Hosp, Surg, Lahore, Pakistan

来源：

CUREUS JOURNAL OF MEDICAL SCIENCE | 2023年 / 15卷 / 08期

关键词：

bone morphogenetic protein (bmp) signaling; acvr1 gene mutation; genetic disorder; heterotopic ossification; fibrodysplasia ossificans progressiva;

D O I：

10.7759/cureus.43309

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by the gradual heterotopic ossification of soft tissues, leading to abnormal bone growth within muscles, tendons, and ligaments, due to a mutation in the ACVR1 gene. This specific case report highlights an unusual occurrence of FOP, emphasizing the diagnostic challenges and the importance of quick identification and appropriate intervention to mitigate its debilitating effects. The report also underscores the need for comprehensive genetic counseling and a multidisciplinary treatment approach, involving experts, such as orthopedic specialists, geneticists, and physical therapists, to improve the prognosis and overall well-being of those affected by FOP.

引用

页数：5

共 9 条

[1] The impact of fibrodysplasia ossificans progressiva (FOP) on patients and their family members: results from an international burden of illness survey [J].

Al Mukaddam, Mona ;

Toder, Katherine S. ;

Davis, Michelle ;

Cali, Amanda ;

Liljesthrom, Moira ;

Hollywood, Suzanne ;

Croskery, Kim ;

Grandoulier, Anne-Sophie ;

Boing, Elaine A. ;

Whalen, John D. ;

Kaplan, Frederick S. .

EXPERT REVIEW OF PHARMACOECONOMICS & OUTCOMES RESEARCH, 2022, 22 (08) :1199-1213

[2] Fibrodysplasia ossificans progressiva mutant ACVR1 signals by multiple modalities in the developing zebrafish [J].

Allen, Robyn S. ;

Tajer, Benjamin ;

Shore, Eileen M. ;

Mullins, Mary C. .

ELIFE, 2020, 9

[3] Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop [J].

de Ruiter, Ruben D. ;

Smilde, Bernard J. ;

Pals, Gerard ;

Bravenboer, Nathalie ;

Knaus, Petra ;

Schoenmaker, Ton ;

Botman, Esmee ;

Sanchez-Duffhues, Gonzalo ;

Pacifici, Maurizio ;

Pignolo, Robert J. ;

Shore, Eileen M. ;

van Egmond, Marjolein ;

Van Oosterwyck, Hans ;

Kaplan, Frederick S. ;

Hsiao, Edward C. ;

Yu, Paul B. ;

Bocciardi, Renata ;

De Cunto, Carmen Laura ;

Delai, Patricia Longo Ribeiro ;

de Vries, Teun J. ;

Hilderbrandt, Susanne ;

Jaspers, Richard T. ;

Keen, Richard ;

Koolwijk, Peter ;

Morhart, Rolf ;

Netelenbos, Jan C. ;

Rustemeyer, Thomas ;

Scott, Christiaan ;

Stockklausner, Clemens ;

Ten Dijke, Peter ;

Triffit, James ;

Ventura, Francesc ;

Ravazzolo, Roberto ;

Micha, Dimitra ;

Eekhoff, Elisabeth M. W. .

FRONTIERS IN ENDOCRINOLOGY, 2021, 12

[4]

Hashemi J, 2011, IRAN J RADIOL, V8, P113

[5] Fibrodysplasia ossificans progressiva [J].

Kaplan, Frederick S. ;

Le Merrer, Martine ;

Glaser, David L. ;

Pignolo, Robert J. ;

Goldsby, Robert E. ;

Kitterman, Joseph A. ;

Groppe, Jay .

BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY, 2008, 22 (01) :191-205

[6] Clinical and Genetic Analysis of Fibrodysplasia Ossificans Progressiva: A Case Report and Literature Review [J].

Lakkireddy, Maheshwar ;

Chilakamarri, Vijaykrishna ;

Ranganath, Prajnya ;

Arora, Abhishek Jagdishchander ;

Vanaja, Maria Celestina .

JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2015, 9 (08) :RD1-RD3

[7]

Pignolo RJ, 2013, PEDIATR ENDOCR REV P, V10, P437

[8] ECSIT links TLR and BMP signaling in FOP connective tissue progenitor cells [J].

Wang, Haitao ;

Behrens, Edward M. ;

Pignolo, Robert J. ;

Kaplan, Frederick S. .

BONE, 2018, 109 :201-209

[9] Analysis of clinical manifestations and treatment in 26 children with fibrodysplasia ossificans progressiva in China [J].

Zhang, Jun-Mei ;

Li, Cai-Feng ;

Ke, Shuang-Ying ;

Piao, Yu-Rong ;

Han, Tong-Xin ;

Kuang, Wei-Ying ;

Wang, Jiang ;

Deng, Jiang-Hong ;

Tan, Xiao-Hua ;

Li, Chao .

WORLD JOURNAL OF PEDIATRICS, 2020, 16 (01) :82-88

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