Fibrodysplasia ossificans progressiva (stone man syndrome): a case report

ConclusionFibrodysplasia ossificans progressiva is a very rare and disabling disorder that, if misdiagnosed, can lead to unnecessary surgical intervention and disastrous results of early disability. We need to spread knowledge to physicians and patients ’ family members about the disease, as well as its features for early diagnosis and how to prevent flare-up of the disease to promote better quality of life in these patients.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research

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Rationale: Fibrodysplasia ossificans progressiva (FOP) is rare genetic disease featuring progressive heterotopic ossification of soft tissues of the musculoskeletal system which leads to severe disability and premature death. Recognition of this disease is important since invasive diagnostic procedures can promote disease progression. However, despite its distinctive clinical manifestations, diagnosis can be difficult because of its rarity Patient concerns: A 20-year-old woman was referred to rheumatology clinic for management of “ankylosing spondylitis”. The patent had begun to have hard subcutaneous nodu...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Publication date: June 2018Source: British Journal of Oral and Maxillofacial Surgery, Volume 56, Issue 5Author(s): A. Geddis-ReganAbstractFibrodysplasia ossificans progressiva is a rare genetic disease of connective tissue in which muscles, ligaments, and tendons ossify either spontaneously or after trauma. Patients can develop physical disabilities and restriction of respiratory function. A patient attended a maxillofacial surgery outpatient clinic with severe trismus and mouth opening limited to 2 mm. The risks of intervention were many from both anaesthetic and surgical perspectives, which prevented the extraction ...
Source: British Journal of Oral and Maxillofacial Surgery - Category: ENT & OMF Source Type: research
Put most simply, heterotopic ossification (HO) is the abnormal formation of bone at extraskeletal sites. HO can be classified into two main subtypes, genetic and acquired. Acquired HO is a common complication of major connective tissue injury, traumatic central nervous system injury, and surgical interventions, where it can cause significant pain and postoperative disability. A particularly devastating form of HO is manifested in the rare genetic disorder, fibrodysplasia ossificans progressiva (FOP), in which progressive heterotopic bone formation occurs throughout life, resulting in painful and disabling cumulative immobility.
Source: Bone - Category: Orthopaedics Authors: Tags: Review Article Source Type: research
CONCLUSIONS: We obtained longitudinal information relating to natural history on Fibrodysplasia ossificans progressiva patients. Implications for rehabilitation Fibrodysplasia ossificans progressiva is a rare congenital disease that causes heterotopic ossification of muscle tissue throughout the body, leading to systemic ankyloses and mobility losses. When the Barthel Index was high and the activities of daily living were relatively stable, the items on the Health Assessment Questionnaire that are related to arm function began to show impairment. Early focus on upper extremity function that includes the use of assistive de...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder in which heterotopic bone forms in the soft tissues. This often occurs in response to injury or inflammation, leading to joint immobilization and significant disability. There are currently no definitive treatment options for this devastating disease. Although the most dramatic phenotype in FOP is the episodic and progressive heterotopic ossification, patients report a number of symptoms that affect other organ systems.
Source: Bone - Category: Orthopaedics Authors: Tags: Full Length Article Source Type: research
Fibrodysplasia ossificans progressiva (FOP) causes progressive disability due to heterotopic ossification from episodic flare-ups. Using data from 500 FOP patients (representing 63% of all known patients world-wide), age- and joint-specific risks of new joint involvement were estimated using parametric and nonparametric statistical methods.
Source: Bone - Category: Orthopaedics Authors: Tags: Full Length Article Source Type: research
Authors: Baidoo RO, Dayie MS Abstract Fibrodysplasia Ossificans Progressiva is a rare debilitating disorder of the musculoskeletal system affecting one in two million individuals. It is characterized by progressive extraskeletal ossification of soft tissues resulting in the original skeleton being encased in unyielding new bone leading to disability and ultimately death from cardiorespiratory failure. The present case brings to light the delays and potential pitfalls in diagnosis as a result of the rarity of the condition. PMID: 28579631 [PubMed - in process]
Source: Ghana Medical Journal - Category: African Health Tags: Ghana Med J Source Type: research
Background Fibrodysplasia ossificans progressiva is an autosomal dominant disorder due to germline mutations of ACVR1/ALK2 causing progressive heterotopic endochondral ossifications. Evidence of central nervous system involvement has emerged only recently. Methods We performed an observational cross-sectional brain MRI study in 13 patients (8 females, mean age 20 years), examining the relationship of clinical and neuroradiological findings. Results All patients presented small asymptomatic lesions similar to hamartomas at the level of the dorsal medulla and ventral pons, associated with minor brainstem dysmorphisms ...
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Phenotypes Source Type: research
ABSTRACT The ACVR1 gene encodes a type I receptor of bone morphogenetic proteins (BMPs). Activating mutations in ACVR1 are responsible for fibrodysplasia ossificans progressiva (FOP), a rare disease characterized by congenital toe malformation and progressive heterotopic endochondral ossification leading to severe and cumulative disability. Until now, no therapy has been available to prevent soft-tissue swelling (flare-ups) that trigger the ossification process. With the aim of finding a new therapeutic strategy for FOP, we developed a high-throughput screening (HTS) assay to identify inhibitors of ACVR1 gene expression am...
Source: DMM Disease Models and Mechanisms - Category: Biomedical Science Authors: Tags: Model Systems in Drug Discovery RESEARCH ARTICLE Source Type: research
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