A rare cause of painful cervical swelling: myositis ossificans progressiva in childhood. Report of a case

Lasry, F; Touki, Abderrazak; Abkari, A.; Khalifa, H. Hadj

doi:10.1016/j.jbspin.2003.09.013

Cited by 6 publications

(2 citation statements)

References 9 publications

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“…It is clear that, despite its distinct clinical picture, FOP is frequently diagnosed with difficulty and delay, and the disease remains a mystery to its medical attendants [17]. The differential diagnosis is wide and includes tumors (sarcomas, nodular fasciitis, osteoma cutis), infections/inflammations (tuberculosis, post-traumatic myositis, Weber-Christian disease), autoimmune diseases (rheumatoid arthritis, dermatomyositis, ankylosing spondylitis, systemic onset juvenile idiopathic arthritis), genetic diseases (Klippel-Feil syndrome, progressive osseous heteroplasia, Albright hereditary osteodystrophy, pseudohypoparathyroidism), and movement disorders (dystonia) [18][19][20][21][22][23]. In a questionnaire-based study on 138 patients with FOP, Kitterman et al found that only 13% were initially diagnosed with FOP [14].…”

Section: Discussionmentioning

confidence: 99%

Fibrodysplasia Ossificans Progressiva Mimics Generalized Dystonia Disorder: A Case Report

Makkawi,

Khojah,

Abualnaja

et al. 2023

Cureus

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Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant disorder characterized by congenital deformities of the big toes and the progressive formation of extra-skeletal bone within soft tissues. The underlying genetic cause of FOP is mostly due to gain-of-function mutations in the AVCR1/ALK2 genes. These mutations cause aberrant bone morphogenetic protein (BMP) signaling pathways and eventually result in cumulative musculoskeletal impairment. FOP has a prevalence of approximately one in every 2 million people worldwide, with nearly 90% of patients being misdiagnosed, possibly leading to an underestimation of its true prevalence. To the best of our knowledge, there are only three reported cases in Saudi Arabia. We report a case of a 21-year-old female patient, a product of a consanguineous marriage, referred to the neurology clinic for new-onset dysphagia and dysarthria in association with progressive painful muscle stiffness, which started at the age of four years. The diagnosis of generalized dystonia disorder was suspected, but eventually the whole exome sequencing showed a pathogenic missense mutation in the ACVR1 gene, confirming the diagnosis of FOP. FOP is a rare, debilitating disorder that can be difficult to diagnose and manage. Current research efforts are focused on early diagnosis and a high index of suspicion to help prevent unnecessary investigations and procedures, slow the progression of the disease, and promote patients’ quality of life and long-term outcomes.

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Section: Discussionmentioning

confidence: 99%

Fibrodysplasia Ossificans Progressiva Mimics Generalized Dystonia Disorder: A Case Report

Makkawi,

Khojah,

Abualnaja

et al. 2023

Cureus

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“…The increase in volume at this level can be confused mainly with cervico-facial infectious processes, as well as with mumps, angioneurotic edema, infectious mononucleosis or neoplasms. (Lasry et al, 2005) [24], (Sellami et al, 2015) [37], (Janoff et al, 1996) [44], (Leavitt et al, 2009) [45], (Awais et al, 2015) [46] Effective treatment includes early identification of submandibular volume increase caused by FOP, nutritional support, glucocorticoid therapy, monitoring, and airway protection. Surgical manipulation of the submandibular region should be avoided because this will worsen the clinical problems of inflammation and accelerate the formation of heterotopic bone.…”

Section: Discussionmentioning

confidence: 99%

Fibrodysplasia Ossificans Progressiva: A Review with Presentation of a Case with Temporomandibular Extra-Articular Ankylosis

Adán¹

2018

IJCOMS

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Fibrodysplasia Ossificans Progressiva (FOP) is a connective tissue disorder that progressively affects tendons, ligaments, aponeurosis, fasciae and muscles which undergo fibrous cell proliferation that progresses to mature bone. It has a prevalence of 1 case per 2 million habitants, having reported less than 1000 cases worldwide. In the maxillofacial region, it might originate extra-articular temporomandibular ankylosis by ossification of ligaments, muscles of the mastication, head and a neck muscles; the most commonly affected are the masseters and sternocleidomastoids. The purpose of this article is to review the Fibrodysplasia Ossificans Progressiva (FOP) and to present the case of a 12-year-old male patient with FOP that causes extra-articular temporomandibular ankylosis. There is no effective proven treatment or prevention and the life expectancy of these patients approaches the 40 years of age, so the management of patients with FOP must be performed with a multidisciplinary approach in which the various health professionals work in a coordinated and joint way to offer a better quality of life to these patients and thus better understand the progression of the disease.

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Skin and Soft-Tissue Lesions

Delman¹,

Weissman²,

Som³

2011

Head and Neck Imaging

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A rare cause of painful cervical swelling: myositis ossificans progressiva in childhood. Report of a case

Cited by 6 publications

References 9 publications

Fibrodysplasia Ossificans Progressiva Mimics Generalized Dystonia Disorder: A Case Report

Fibrodysplasia Ossificans Progressiva Mimics Generalized Dystonia Disorder: A Case Report

Fibrodysplasia Ossificans Progressiva: A Review with Presentation of a Case with Temporomandibular Extra-Articular Ankylosis

Skin and Soft-Tissue Lesions

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