Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report

BMC Medical Genetics
Shengjie TianYaogang Lu

Abstract

Fibrodysplasia ossificans progressiva (FOP), an ultra-rare and disabling genetic disorder of skeletal malformations and progressive heterotopic ossification, is caused by heterozygous activating mutations in activin A receptor, type I/activin-like kinase 2 (ACVR1/ALK2). The rarity of the disease makes it common to make a misdiagnosis and cause mismanagement. We reported a case of a sixteen-year-old male patient who had suffered from pain and swelling in the biopsy site for two months. His physical examination presented serious stiffness and multiple bony masses in the body, with his bilateral halluces characterized by hallux valgus deformity and macrodactyly. Imaging examinations showed widespread heterotopic ossification. All laboratory blood tests were normal except for the one on alkaline phosphatase. A de novo heterozygous mutation (c.617G > A; p.R206H) were found in the ACVR1/ALK2 using gene sequencing. Even though FOP is a rare disorder of genetic origin, which is generally misdiagnosed, the genetic analysis could provide definitive confirmation of the disease. Awareness of such an important approach can help clinicians to avoid the commonly practiced misdiagnosis and mismanagement of the rare disease.

References

Jun 1, 1996·QJM : Monthly Journal of the Association of Physicians·R SmithS E Vipond
Oct 19, 2005·Pediatrics·Joseph A KittermanFrederick S Kaplan
Mar 11, 2008·Best Practice & Research. Clinical Rheumatology·Frederick S KaplanEileen M Shore
Nov 26, 2008·Nature Medicine·Paul B YuKenneth D Bloch
Mar 3, 2010·The Journal of Bone and Joint Surgery. American Volume·Frederick S KaplanDavid M Rocke
Dec 3, 2011·Orphanet Journal of Rare Diseases·Robert J PignoloFrederick S Kaplan
Jan 1, 2008·Drug Discovery Today. Therapeutic Strategies·Frederick S KaplanEileen M Shore
May 7, 2014·Expert Opinion on Orphan Drugs·Frederick S KaplanEileen M Shore
Oct 30, 2016·Morphologie : Bulletin De L'Association Des Anatomistes·B BouvardM Audran
Mar 31, 2016·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Robert J PignoloFrederick S Kaplan

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Citations

Nov 7, 2019·Cells·José Antonio ValerFrancesc Ventura

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Methods Mentioned

BETA
biopsies
biopsy

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