Abstract
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder, characterized by painful swelling of muscles and connective tissue in the early years of life, consequently leading to ossification at a mean age of 4-5 years. We report FOP in a 2-year-old boy with palpable masses in the frontal and lower cervical paraspinal and left periscapular muscles.
He was born with hallux valgus. Despite this hallmark he was referred to the hospital with the first diagnosis of hematoma, but further investigation indicated FOP. The patient was discharged from the hospital with non steroidal anti-inflammatory drugs (NSAID) and education of the parents. The importance of this case was that in spite of beginning early with the typical presentation of FOP for more than one year and the fact that the patient's mother was a physician who had consulted with many specialists, the diagnosis had been missed.
This indicates that the general physicians, radiologists and other specialists’ awareness and knowledge of FOP is low.
He was born with hallux valgus. Despite this hallmark he was referred to the hospital with the first diagnosis of hematoma, but further investigation indicated FOP. The patient was discharged from the hospital with non steroidal anti-inflammatory drugs (NSAID) and education of the parents. The importance of this case was that in spite of beginning early with the typical presentation of FOP for more than one year and the fact that the patient's mother was a physician who had consulted with many specialists, the diagnosis had been missed.
This indicates that the general physicians, radiologists and other specialists’ awareness and knowledge of FOP is low.
Keywords
Fibrodysplasia Ossificans Progressiva Hallux Valgus Autosomal Dominant;Bone
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© 2011, Author(s). This open-access article is available under the Creative Commons Attribution 4.0 (CC BY 4.0) International License (https://creativecommons.org/licenses/by/4.0/), which allows for unrestricted use, distribution, and reproduction in any medium, provided that the original work is properly cited.