Literature DB >> 34276874

Fibrodysplasia ossificans progressiva (FOP) presenting as a rapidly growing non-calcified neck mass.

Ghiam Yamin1,2, Shadi Daghighi1,3, Mahmood Mafee1.   

Abstract

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare autosomal dominant inherited disorder leading to mature ossification within soft tissues. We report a 62-year-old female with a 3-week history of a rapidly enlarging left neck mass with no associated symptoms. A neck CT showed a ~10 cm solid-appearing non-calcified left neck mass that markedly decreased in size on a one-month follow-up neck MRI, but with new extensive edema/intense enhancement in floor of the mouth. Prior radiographs documented hallux valgus and heterotopic ossification of the psoas/paraspinal muscles and shoulder girdle. In this case of FOP, no intervention was implemented and the symptoms improved over time and thus paralleled other such cases for flare-ups. Clinicians should be aware of this rare entity, as it is frequently misdiagnosed as cancer or other benign entities such as infection, resulting in biopsies that can often hasten disease progression. Copyright Journal of Radiology Case Reports.

Entities:  

Keywords:  Head and neck mass; fibrodysplasia ossificans progressiva (FOP); head and neck tumor; musculoskeletal syndromes; myositis ossificans progressive (MOP); radiology; rheumatology

Mesh:

Year:  2021        PMID: 34276874      PMCID: PMC8253151          DOI: 10.3941/jrcr.v15i5.4103

Source DB:  PubMed          Journal:  J Radiol Case Rep        ISSN: 1943-0922


  7 in total

1.  Progressive myositis ossificans; report of a case.

Authors:  G GRIFFITH
Journal:  Arch Dis Child       Date:  1949-03       Impact factor: 3.791

2.  A case of extraordinary exostoses on the back of a boy. 1740. John Freke (1688-1756).

Authors:  L F Peltier
Journal:  Clin Orthop Relat Res       Date:  1998-01       Impact factor: 4.176

Review 3.  Fibrodysplasia ossificans progressiva: clinical course, genetic mutations and genotype-phenotype correlation.

Authors:  Irina Hüning; Gabriele Gillessen-Kaesbach
Journal:  Mol Syndromol       Date:  2014-08-07

4.  Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva.

Authors:  Joseph A Kitterman; Sharon Kantanie; David M Rocke; Frederick S Kaplan
Journal:  Pediatrics       Date:  2005-10-17       Impact factor: 7.124

Review 5.  Cellular and morphological aspects of fibrodysplasia ossificans progressiva. Lessons of formation, repair, and bone bioengineering.

Authors:  Anderson Martelli; Arnaldo Rodrigues Santos
Journal:  Organogenesis       Date:  2014-10-31       Impact factor: 2.500

Review 6.  Fibrodysplasia ossificans progressiva.

Authors:  Frederick S Kaplan; Martine Le Merrer; David L Glaser; Robert J Pignolo; Robert E Goldsby; Joseph A Kitterman; Jay Groppe; Eileen M Shore
Journal:  Best Pract Res Clin Rheumatol       Date:  2008-03       Impact factor: 4.098

Review 7.  Fibrodysplasia ossificans progressiva: clinical and genetic aspects.

Authors:  Robert J Pignolo; Eileen M Shore; Frederick S Kaplan
Journal:  Orphanet J Rare Dis       Date:  2011-12-01       Impact factor: 4.123

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.