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PubMed2006

Anaesthetic management of a child with fibrodysplasia ossificans progressiva.

Fibrodysplasia Ossificans Progressiva (FOP) is a rare inherited disease in which progressive ossification of striated muscles leads to severe disability and respiratory impairment early in life and there are associated characteristic congenital skeletal malformations. Although this condition may prove demanding for the anaesthetist, few reports are available regarding anaesthesia in paediatric patients. We review the clinical features of the disease relevant to anaesthesia and describe the perioperative care of an 18-month-old boy with FOP who underwent endoscopic third-ventriculostomy for hydrocephalus associated with a brainstem mass. We emphasize the importance of an appropriate anaesthetic management of these patients, as inadequate care may lead to exacerbation of the disease with permanent sequelae.

Anesthesia, General↗

PubMedDate not supplied

Fibrodysplasia ossificans progressiva in the cat. A case report.

Clinical, radiographic, electromyographic, and pathologic findings in a cat with fibrodysplasia ossificans progressiva are described. The features of five previously reported cases of this feline disorder are also presented. This disorder affects young adult to middle-aged cats of both sexes. Characteristic clinical features include progressive stiffness of gait, with enlargement of proximal limb musculature. Radiography reveals multiple mineralized densities within the affected musculature. The clinical course is rapid, with development of severe disability within 2 weeks to several months. Electromyographic and pathologic findings suggest that this is a disorder of connective tissue, affecting primarily the epimysium, tendons, and fasciae, and results in marked proliferation of fibrovascular connective tissue, with associated chondroid and osseous metaplasia.

Animals↗

PubMed1999

Fibrodysplasia ossificans progressiva and associated osteochondroma of the coronoid process in a child.

The article reports the occurrence of osteochondroma in a fibrodysplasia ossificans progressiva patient. A 5-year-old boy presented with limited mouth opening and firm swelling of the right zygomatic complex area. The boy had bilateral hallux valgus of the great toes and heterotopic endochondral ossification of facial and neck regions. Associated osteochondroma of the coronoid process and aggressive heterotopic ossification of masticatory and neck muscles were found in response to traumatic injuries. Natural and clinical histories of fibrodysplasia ossificans progressiva were reviewed. An early diagnosis and avoidance of factors that aggravate ossification are key factors in reducing the expected degree of physical disabilities of patients. An early recognition of congenital skeletal deformities, early detection of abnormal ossification, and awareness of the disease by the involved physicians are important factors in the early diagnosis of the disease and in reducing any unnecessary trauma. Bone scintigrams and CT scans are effective noninvasive tools for an early detection of ossification and for monitoring the progression of the disease. Further investigation of its pathogenesis at a molecular level is important to understand better the nature of the disease and to develop an effective treatment protocol.

Child, Preschool↗

PubMed1982

Genetic aspects of fibrodysplasia ossificans progressiva.

Complete ascertainment of fibrodysplasia ossificans progressiva in the United Kingdom was attempted and 44 patients were identified. This indicates a point prevalence of 0.61 x 10(-6). The disease is determined as an autosomal dominant trait which has complete penetrance but variable expressivity. No evidence for genetic heterogeneity was found in this series. All patients represented fresh gene mutations and their biological fitness was zero. Geographical clustering of these new mutations was evident but conformed to the general population distribution. The direct estimate of the mutation rate was 1.8 (SE +/- 1.04) x 10(-6) mutations per gene per generation. A significant paternal age effect was evident for these new mutations in the United Kingdom.

Adolescent↗

PubMed1997

[Imaging aspect of a case of fibrodysplasia ossificans progressiva].

Fibrodysplasia ossificans progressiva is a rare congenital disease that affects children under the age of five years. Soft tissue swelling of the cervical and dorsal regions with local pain, warmth and low grade fever are the early clinical manifestations, usually associated with hallux valgus and microdactily of the fingers and toes. Calcifications of the fascias and muscles cause muscular contractures leading to progressive disability and restrictive lung disease. In the early stage, CT shows edema of the soft tissues and later on, calcifications of muscular fascia. The association of these radiographic and CT findings is specific and should avoid muscular biopsies which are known to be an aggravating factor in this disease.

Calcinosis↗

PubMed1993

Genetic transmission of fibrodysplasia ossificans progressiva. Report of a family.

Fibrodysplasia ossificans progressiva is a rare connective-tissue disorder characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the tendons, ligaments, fasciae, and skeletal muscles. We document the genetic transmission of fibrodysplasia ossificans progressiva from a sporadically affected father to each of his three children: two daughters and a son. Previous consideration of a genetic etiology was based on the fact that the disease has been reported in several sets of monozygotic twins, that an increased paternal age has been associated with sporadic occurrences of the disorder, and that there have been several reports of genetic transmission in the remote past. Although an autosomal-dominant genetic transmission has long been suspected, the findings in the family reported on here provide confirmation for such inheritance and a basis for the diagnosis and counseling of patients who have this disease.

Adult↗

PubMed2004

Inherited ossifying diseases.

Inherited ossifying diseases are relatively uncommon diseases leading ta a great disability and life-threatening complications. Fibrodysplasia Ossificans Progressiva is characterized by the association of skeletal abnormalities mainly in great toes, and enchondral ossifications in tendons and muscles. BMP dysregulation seems to be the main underlying mechanism of the heterotopic ossifications. The genetic basis remain controversial between a mutation on chromosome 4 or 17. Progressive Osseous Heteroplasia (HOP), more recently described, shares some similarities with Albrights hereditary osteodystrophy. In HOP, the intramembranous ossifications progressively developped from the dermis to the deeper layer. The genetic abnormality involved the GNAS 1 gene leading to an inactivation of the alpha subunit of the G protein-complex. Some therapeutic approaches have been tried: angiogenesis inhibition, mast cell inhibition; others remained in project: BMP 4 inhibition; actually there is no proved efficacy of any of them.

Female↗

PubMed2000

[Head and neck lesions caused by systemic progressive ossifying fibrodysplasia (Munchmeyer's disease].

Fibrodysplasia ossificans progressiva is a rare hereditary connective tissue disorder due to an unknown mutation conditioning the ossification of striated muscle and soft tissues frequently related to joints and stimulated by traumatisms or aggressive iatrogenic manouvres. It produces stiffness, pain, disability, swelling and fibro-osseus masses disseminated everywhere, with a very spectacular, invalidant and irreversible clinical picture. Affection of head and neck is unusual, excepting lesions in sternocleidomastoid or masticatiry muscles. We show a systemic case of fibrodysplasia osificans progressiva with enhanced clinical and radiological findings in cervical rhachis, pharynx and larynx, oral cavity, facial bones and ear. Association of biphophonates and steroids for a long period of time seems up to now stopping the evolution but not its regression.

Adult↗

PubMed2006

Dysregulation of the BMP-4 signaling pathway in fibrodysplasia ossificans progressiva.

Identification of gene mutations in Mendelian disorders is often determined by linkage analysis and positional cloning, an approach that is difficult for fibrodysplasia ossificans progressiva (FOP) due to a low reproductive fitness that results in a small number of multigenerational families showing inheritance of the disease. Altered signaling pathways can be investigated as a complementary method to identify the consequences of the mutated gene responsible for FOP and to identify potential therapeutic targets. Candidate signaling pathways for FOP are those that malfunctioning could account for the malformation of the great toes during embryonic development and could explain the postnatal progressive heterotopic endochondral ossification. Signaling pathways that fit these criteria are the BMP signaling pathway and its interacting pathways. A large body of data suggest that the BMP-4 signaling pathway is dysregulated in FOP.

Animals↗

PubMed2004

Fibrodysplasia ossificans progressiva in a Malian boy of Bamako.

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare hereditary connective tissue disorder characterized by congenital malformation of the great toes and by progressive heterotopic ossification of striated muscles and soft tissues. We report a case of FOP in a Malian boy and review the clinical and radiographic manifestations of this disorder. The body TDM showed ossifications and calcifications in the muscles of the large rhomboid, the erector muscles of the rachis and the trapezius muscles. Radiography of the dorsolumbar rachis showed paravertebral soft tissue calcification adjacent to intact lumbar vertebrae. The diagnosis is based on clinical and radiological findings and demonstration of skeletal malformations. The differential diagnosis of this rare condition from other muscle and joint disease is discussed. There is no effective prevention or treatment. There is a need for a wider knowledge of this condition.

Child↗

PubMed2006

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of skeletal malformations and progressive extraskeletal ossification. We mapped FOP to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G --> A; R206H) in the glycine-serine (GS) activation domain of ACVR1, a BMP type I receptor, in all affected individuals examined. Protein modeling predicts destabilization of the GS domain, consistent with constitutive activation of ACVR1 as the underlying cause of the ectopic chondrogenesis, osteogenesis and joint fusions seen in FOP.

Activin Receptors, Type I↗

PubMed1994

Age- and joint-specific risk of initial heterotopic ossification in patients who have fibrodysplasia ossificans progressiva.

Using data from a survey of 44 patients who have fibrodysplasia ossificans progressiva, age- and joint-specific risks of new joint involvement were estimated using parametric and nonparametric statistical methods. Regions in which the risk of heterotopic ossification appears to remain constant with age include the neck, spine, shoulders, elbows, and ankles. Regions with apparently increasing risk include the jaw, wrists, hips, and knees. This analysis allows clinicians to estimate the risk of new involvement for any joint at any patient age, as well as the fraction of patients with uninvolved joints at any age. The variation of ossification risk by joint provides a clinically useful guide to the patterns of progression of the disease. Such a guide will help in planning for individual patient needs, as well as anticipating auxiliary social services and rehabilitation programs.

Adolescent↗

PubMed2002

Multivariate survival analysis with doubly-censored data: application to the assessment of Accutane treatment for fibrodysplasia ossificans progressiva.

Fibrodysplasia ossificans progressiva is a rare genetic disorder in which the joints of patients become disabled by the formation of heterotopic bone. Data are available on the status of 11 joints of each of 21 patients before, during and after treatment with Accutane. These are compared with data obtained by questionnaire from 40 untreated patients to determine the efficacy of the treatment. Both left- and right-censoring are present in each group, which, together with the multivariate nature of the data and the time-dependent treatment covariate, makes analysis difficult. We consider two alternative parametric models for incorporating within-subject dependence: a marginal model and a frailty model. Both analyses suggest that Accutane treatment is effective. We discuss and illustrate the differences between the two approaches. We also discuss the extent to which the conclusions are compromised by the observational nature of the study.

Humans↗

PubMed1995

Fibrodysplasia ossificans progressiva: still turning into wood after 300 years?

Fibrodysplasia ossificans progressiva (FOP), a rare autosomal dominant disorder, is characterized by symmetrical congenital skeletal abnormalities and progressive heterotopic ossification of the connective tissues. At present, more than 300 years after the first report by Patin in 1648 in which he described the woman who "turned to wood", its pathogenesis remains largely unknown and its therapy is limited to symptom-modifying trials. However, significant progress has been recently made and new data on the molecular organization and regulation of normal and disordered bone induction are likely to lead to a more specific therapy. FOP is believed to be a genetic disorder characterized by a disturbed expression of the endochondral osteogenesis programme, and the remarkable "clues from the fly" reported by Kaplan et al. [8] in 1990 suggest a gain-of-function mutation in the genetic regulation of bone morphogenetic proteins.

Bone Morphogenetic Proteins↗

PubMed1979

Fibrodysplasia ossificans progressiva. A survey of forty-two cases.

Fibrodysplasia ossificans progressiva in children can often be recognized at birth because of the presence of shortening of the great toe, characteristic hallux valgus, and short thumbs. The majority of patients have the onset of symptoms by the age of four years, but there is often a delay of many months before the diagnosis is made. Early recognition will allow protection of the child from injuries in which the damaged tissue will serve as a focus of calcification. Most patients with this condition are physically disabled. The site of onset and of greatest involvement is axial. Biopsy and surgery are best avoided. Use of EHDP (disodium ethane 1-hydroxy, 1-diphosphonate, or disodium etidronate) is not as yet of proved value in most patients. Data from this study support the concept that most cases of this lesion arise as dominant mutations.

Activities of Daily Living↗

PubMed1999

Illustrative disorders of ectopic skeletal morphogenesis: a childhood parallax for studies in gravitational and space biology.

Heterotopic ossification is a key feature of at least three distinct genetic disorders of osteogenesis in humans: fibrodysplasia ossificans progressiva, progressive osseous heteroplasia, and Albright's hereditary osteodystrophy. All three conditions are genetic disorders of childhood, but the pathobiology of osteogenic induction, the histopathology of osteogenesis, the anatomic distribution of heterotopic lesions, and the developmental patterns of disease progression differ among the three conditions. The phenotypic distinction of these disorders is critically important in counselling patients and families as well as in advancing research to define the molecular pathophysiology of heterotopic osteogenesis in these disabling genetic disorders. Genetic disorders of tissue modeling and morphogenesis provide an important parallax to disturbances of tissue re-modeling that are of paramount importance to gravitational and space biologists as humans begin to explore and live in environments beyond the planet on which they evolved. Disorders of osteogenesis are of particular concern to space biologists due to the dramatic changes in skeletal biology in altered gravitational fields.

Bone Morphogenetic Proteins↗

PubMed1991

An autopsy case of a traffic accident accompanied with fibrodysplasia ossificans progressiva: a case report.

A report is made on an autopsy case of a 19-year-old man with fibrodysplasia ossificans progressiva, who died in a traffic accident. The cause of death was acute massive haemorrhage from the lacerated liver. There was a bar of paraspinal ossifying lumps, which was hard, ramified throughout his back and restricted the movement of the thoracic vertebral column. Numerous hard swellings were palpable through the skin on the elbows, thighs, and lumbar and gluteal regions. Small bony masses were found in the muscles. According to his clinical records, radiographs and autopsy findings, he might suffer from the later stage of the disease. As a cause of the accident, though suicidal attempt by using the car or dosing was suspected, the influence of the disease itself was also considered. In connection with this case, it seemed that in the traffic death case with a rare disease, the careful investigation of the clinical symptoms and severity of the disease is very important.

Accidents, Traffic↗

PubMed2005

Fibrodysplasia ossificans progressiva: case report.

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder characterized by postnatal progressive heterotopic ossification of the connective tissue and congenital malformation of the big toes. We report on a nine-year-old girl with clinical and radiological features of FOP. She was born with bilateral hallux valgus and at the age of nine presented an indurate mass in the left cervical region that was painful. A significant decreased range of motion in all levels of the spine and shoulder girdle was found. The radiographs showed heterotopic ossification in the thoracic region. The patient had two outbreaks of the disease ("flare-ups") that were treated with prednisone 2 mg/kg/day for four days. After the "flare-ups", she had a continuous therapy with a Cox-2 inhibitor (25 mg/day) and a leukotriene inhibitor, montelukast (10 mg/day).

Acetates↗