Literature DB >> 28751434

Atypical presentation and management of fibrodysplasia ossificans progressiva.

André Grenho1, Joana Arcângelo1, Augusto Martins1.   

Abstract

We report a case of an 18-year-old woman, with bilateral acute inflammatory pain on the hip area, during the premenstrual period, and progressive increase in volume and rigidity of both hips. Bilateral exuberant soft tissue calcifications were present on the radiographic exams, and the patient also presented with bilateral short-length hallux valgus. A heterozygous mutation in the protein kinase domain of ACVR1 gene was found, allowing the diagnosis of fibrodysplasia ossificans progressive. Due to the relation between the disease flares and the premenstrual period, the patient was put into a chemically induced amenorrhea, with no new inflammatory crises since.This case illustrates the importance of an accurate diagnosis to prevent unnecessary diagnostic procedures, as well as the need to develop specific treatment strategies to address each patient's particular needs. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Entities:  

Keywords:  genetics; obstetrics and gynaecology; orthopaedics

Mesh:

Substances:

Year:  2017        PMID: 28751434      PMCID: PMC5624057          DOI: 10.1136/bcr-2017-221190

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  9 in total

1.  A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.

Authors:  Eileen M Shore; Meiqi Xu; George J Feldman; David A Fenstermacher; Tae-Joon Cho; In Ho Choi; J Michael Connor; Patricia Delai; David L Glaser; Martine LeMerrer; Rolf Morhart; John G Rogers; Roger Smith; James T Triffitt; J Andoni Urtizberea; Michael Zasloff; Matthew A Brown; Frederick S Kaplan
Journal:  Nat Genet       Date:  2006-04-23       Impact factor: 38.330

2.  The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients.

Authors:  R B Cohen; G V Hahn; J A Tabas; J Peeper; C L Levitz; A Sando; N Sando; M Zasloff; F S Kaplan
Journal:  J Bone Joint Surg Am       Date:  1993-02       Impact factor: 5.284

3.  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

4.  Genetic transmission of fibrodysplasia ossificans progressiva. Report of a family.

Authors:  F S Kaplan; W McCluskey; G Hahn; J A Tabas; M Muenke; M A Zasloff
Journal:  J Bone Joint Surg Am       Date:  1993-08       Impact factor: 5.284

5.  Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.

Authors:  Frederick S Kaplan; Meiqi Xu; Petra Seemann; J Michael Connor; David L Glaser; Liam Carroll; Patricia Delai; Elisabeth Fastnacht-Urban; Stephen J Forman; Gabriele Gillessen-Kaesbach; Julie Hoover-Fong; Bernhard Köster; Richard M Pauli; William Reardon; Syed-Adeel Zaidi; Michael Zasloff; Rolf Morhart; Stefan Mundlos; Jay Groppe; Eileen M Shore
Journal:  Hum Mutat       Date:  2009-03       Impact factor: 4.878

6.  Dysregulated BMP signaling and enhanced osteogenic differentiation of connective tissue progenitor cells from patients with fibrodysplasia ossificans progressiva (FOP).

Authors:  Paul C Billings; Jennifer L Fiori; Jennifer L Bentwood; Michael P O'Connell; Xiangyang Jiao; Burton Nussbaum; Robert J Caron; Eileen M Shore; Frederick S Kaplan
Journal:  J Bone Miner Res       Date:  2008-03       Impact factor: 6.741

7.  The Natural History of Flare-Ups in Fibrodysplasia Ossificans Progressiva (FOP): A Comprehensive Global Assessment.

Authors:  Robert J Pignolo; Christopher Bedford-Gay; Moira Liljesthröm; Blythe P Durbin-Johnson; Eileen M Shore; David M Rocke; Frederick S Kaplan
Journal:  J Bone Miner Res       Date:  2015-11-14       Impact factor: 6.741

Review 8.  Skeletal metamorphosis in fibrodysplasia ossificans progressiva (FOP).

Authors:  Frederick S Kaplan; Qi Shen; Vitali Lounev; Petra Seemann; Jay Groppe; Takenobu Katagiri; Robert J Pignolo; Eileen M Shore
Journal:  J Bone Miner Metab       Date:  2008-11-01       Impact factor: 2.626

9.  The histopathology of fibrodysplasia ossificans progressiva. An endochondral process.

Authors:  F S Kaplan; J A Tabas; F H Gannon; G Finkel; G V Hahn; M A Zasloff
Journal:  J Bone Joint Surg Am       Date:  1993-02       Impact factor: 5.284

  9 in total

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