Intractable & Rare Diseases Research
Online ISSN : 2186-361X
Print ISSN : 2186-3644
ISSN-L : 2186-3644
Case Report
New insights on fibrodysplasia ossificans progressiva: discussion of an autoptic case report and brief literature review
Vittorio BolcatoClaudia CarelliSilvia Damiana VisonàMarcella ReguzzoniMaja Di RoccoAlessandra RadognaLivio Pietro TronconiMatteo Moretti
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2021 Volume 10 Issue 2 Pages 136-141

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Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic condition with soft tissue progressive ossification, leading to severe disability. We describe a 27-years-old female affected by FOP who died after a fall. An autopsy was performed. Upper and lower extremities resulted in fixed flexion, with kyphoscoliosis of the spine and chest wall deformity. Moreover, a cranial fracture was pointed out. At histology, atypical abundance of corpora amylacea in gray matter was observed. In a sample of macroscopically non-affected muscular tissue, small areas with necrosis of myocytes and hyperplasia of fibroblasts were seen in light microscopy, with intracellular inorganic dystrophic inclusions in transmission electron microscopy. Thyroid gland histology showed diffuse lymphocytic infiltration. Postmortem examination of FOP patients provided precious information about involvement of other tissues, suggesting an initial and widespread inflammatory/dystrophic phase, to be further investigated, because it might reveal new insights about a FOP mutation cascade.

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© 2021 International Research and Cooperation Association for Bio & Socio-Sciences Advancement
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