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Fibrodysplasia ossificans progressiva presenting as a neck mass
(Source: International Journal of Pediatric Otorhinolaryngology)
Source: International Journal of Pediatric Otorhinolaryngology - December 1, 2013 Category: ENT & OMF Tags: Abstracts Source Type: research
ACVR1 (587T>C) mutation in a variant form of fibrodysplasia ossificans progressiva: Second report
We report on the second patient worldwide with ACVR1 (587T>C) mutation. A 22‐year‐old Japanese male with no family history of heterotopic ossification did not show any malformation of the great toes and showed normal development from birth to the age of 17 years, when heterotopic ossification appeared in the lumbar area. The clinical symptoms were similar to those reported previously: the delayed onset with a slower and mild clinical course and little finger camptodactyly. Gene analysis revealed that the patient was heterozygous for ACVR1 (587T>C) mutation, the same one as reported in 2011, suggesting a correlati...
Source: American Journal of Medical Genetics Part A - November 20, 2013 Category: Genetics & Stem Cells Authors: Y. Nakahara, T. Katagiri, N. Ogata, N. Haga Tags: Clinical Report Source Type: research
The phenotype and genotype of fibrodysplasia ossificans progressiva in China: A report of 72 cases
Abstract: Fibrodysplasia ossificans progressiva, an ultra-rare and disabling genetic disorder of skeletal malformations and progressive heterotopic ossification (HO), is the most catastrophic condition of skeletal metamorphosis in humans. We studied 72 patients with FOP in China and analyzed their phenotypes and genotypes comprising the world's largest ethnically homogeneous population of FOP patients. Ninety-nine percent of patients (71/72 cases) were of Han nationality; and 1% of patients (1/72 cases) were of Hui nationality. Based on clinical examination, 92% of patients (66/72 cases) had classic FOP; 4% of patients (3/...
Source: Bone - October 31, 2013 Category: Orthopaedics Authors: Wei Zhang, Keqin Zhang, Lige Song, Jing Pang, Hongxing Ma, Eileen M. Shore, Frederick S. Kaplan, Peijun Wang Tags: Original Articles Source Type: research
Perhexiline maleate in the treatment of fibrodysplasia ossificans progressiva: an open-labeled clinical trial
Conclusions: We could not prove the efficacy of oral Pex administration in the prevention of heterotopic ossifications in FOP. Serum levels of ALP and BAP appear to be promising biomarkers for monitoring the development of ectopic ossifications and efficacy of the therapy. Quantification of change in the total bone volume by whole body CT scanning could be a reliable evaluation tool for disease progression in forthcoming clinical trials of FOP. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 16, 2013 Category: Internal Medicine Authors: Hiroshi KitohMasataka AchiwaHiroshi KanekoKenichi MishimaMasaki MatsushitaIzumi KadonoJohn HorowitzBenedetta SallustioKinji OhnoNaoki Ishiguro Source Type: research
Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva
Conclusions: Our results showed that several transcription factors such as Egr-1, Egr-2, ZBTB7A/LRF, and Hey1, regulate the ACVR1 promoter by binding to the -762/-308 region, which is essential to confer maximal transcriptional activity. The Sp1 transcription factor acts at the most proximal promoter segment upstream of the transcription start site. We observed significant differences in different cell types suggesting tissue specificity of transcriptional regulation. These findings provide novel insights into the molecular mechanisms that regulate expression of the ACVR1 gene and that could be targets of new strategies fo...
Source: Orphanet Journal of Rare Diseases - September 18, 2013 Category: Internal Medicine Authors: Francesca GiacopelliSerena CappatoLaura TonachiniMarzia MuraSimona Di LascioDiego FornasariRoberto RavazzoloRenata Bocciardi Source Type: research
Fibrodysplasia ossificans progressiva presenting as a neck mass
Abstract: Objective: To report a case of fibrodysplasia ossificans progressiva (FOP) initially presenting as a neck mass and alert the practicing otolaryngologist to the imperative to avoid harmful biopsy.Case: A 2-year-old male presented with a firm left posterior neck mass and bilateral great toe malformations. Imaging was non-diagnostic and after 2 weeks of antibiotics the lesion was larger. At surgical biopsy, the mass was pale, firm, and avascular. Histopathology showed low grade fibromyxoid tissue. Rheumatology service diagnosed FOP based on clinical examination of neck mass, bilateral great toe deformities, stiff jo...
Source: International Journal of Pediatric Otorhinolaryngology Extra - September 9, 2013 Category: ENT & OMF Authors: Robert J. Tibesar, Lindsay Eisler, Mona M. LaPlant, James D. Sidman Tags: Case reports Source Type: research
Girl, 17, battling rare disease that turns muscle into a second skeleton and will turn her into a living STATUE
Seanie Nammock, from West London, is suffering from fibrodysplasia ossificans progressiva (FOP), a condition that is turning her muscle and tendon into bone. (Source: the Mail online | Health)
Source: the Mail online | Health - July 29, 2013 Category: Consumer Health News Source Type: news
The skeleton in the closet.
Abstract The origins of fibrodysplasia ossificans progressiva (FOP) in human history are unknown but the condition has been well described since Freke's account in 1740. Important contributions by physicians and scientists in the past two and a half centuries have converged on the remarkable skeleton of Harry Eastlack at The Mutter Museum of The College of Physicians in Philadelphia. PMID: 23810943 [PubMed - as supplied by publisher] (Source: Gene)
Source: Gene - June 25, 2013 Category: Genetics & Stem Cells Authors: Kaplan FS Tags: Gene Source Type: research
Treatment of an intractable cutaneous ulcer in the right lateral malleolus in fibrodysplasia ossificans progressiva.
Abstract Abstract is missing (Letter). PMID: 23722929 [PubMed - as supplied by publisher] (Source: Acta Dermato-Venereologica)
Source: Acta Dermato-Venereologica - May 27, 2013 Category: Dermatology Authors: Matsuda K, Goto M, Ito Y, Shimizu F, Hatan Y, Fujiwara S Tags: Acta Derm Venereol Source Type: research
Fibrodysplasia ossificans progressiva: diagnosis in primary care
OBJETIVO: Buscou-se demonstrar ser possível diagnosticar a fibrodisplasia ossificante progressiva na atenção primária à saúde. DESCRIÇÃO DO CASO: Paciente de dez anos que, desde os quatro anos, mostrava rigidez progressiva nas articulações e na coluna vertebral, além de ossificações de partes moles, muitas vezes associadas a traumatismos. Havia desvio de hálux valgo dos primeiros artelhos de ambos os pés, presente desde o nascimento. Por meio de radiografias, demonstrou-se a presença de ossificações heterotópicas. COMENTÁRIOS: É possível realizar o diagnóstico desta doença com recursos disponíveis ...
Source: Revista Paulista de Pediatria - April 26, 2013 Category: Pediatrics Source Type: research
Imaging diagnosis: fibrodysplasia ossificans progressiva in a cat
A 1‐year‐old female cat was presented for progressive alopecia, gait abnormalities, and stiffness. Radiography demonstrated multiple calcified lesions within the soft tissues of the cervical and thoracic spine, shoulder, and limbs. Postmortem computed tomography provided more detailed information on the distribution, pattern, and extension of lesions. In addition, computed tomography helped guide sample selection for histopathology. The final diagnosis was fibrodysplasia ossificans progressiva. This is a rare disorder of unknown etiology, characterized by fibrosis and heterotopic bone formation in connective tissues. T...
Source: Veterinary Radiology and Ultrasound - April 11, 2013 Category: Veterinary Research Authors: Andrea Klang, Sibylle Kneissl, Romana Glänzel, Andrea Fuchs‐Baumgartinger Tags: Imaging Diagnosis Source Type: research
Fibrodysplasia ossificans progressiva (FOP): Report of a case with extra-articular ankylosis of the mandible
This report outlines the management of a patient with FOP limited to the maxillofacial region where the FOP lesion produced a fusion between the mandibular ramus and the zygomatic complex and trismus. The patient underwent three surgical procedures and various medical treatments during a 19-year period in attempts to manage the trismus, all in vain. The initial difficulty in establishing the diagnosis and ignorance of the true nature of the disease led to unsuccessful surgery. (Source: Journal of Cranio-Maxillofacial Surgery)
Source: Journal of Cranio-Maxillofacial Surgery - March 18, 2013 Category: ENT & OMF Authors: R.K. Kriegbaum, S. Hillerup Source Type: research
Fibrodysplasia ossificans progressiva (FOP): A disorder of extraskeletal endochondral ossification
Fibrodysplasia ossificans progressiva (FOP) is a genetic disorder in which extraskeletal bone forms in soft connective tissues, initiating during childhood and continuing throughout adult life. This heterotopic bone is qualitatively normal and forms through endochondral ossification. Episodes of bone formation often occur in response to injury. In addition to heterotopic ossification, FOP is associated with altered skeletal development, the most characteristic of which is malformation of the great toes. All FOP patients that we have examined carry mutations in ACVR1, the gene encoding the ALK2 BMP type I receptor. Most pat...
Source: Seminars in Arthritis and Rheumatism - February 11, 2013 Category: Rheumatology Authors: Eileen M. Shore Tags: Conference Proceedings Source Type: research
[Is there a place in primary care for rare diseases? The case of fibrodysplasia ossificans progressiva.]
Abstract Fibrodysplasia ossificans progressiva is one of the most devastating constitutional diseases of the bone, and may be a valid example to establish the role of Primary Care in the care of rare diseases. Although rare diseases usually present with marked anomalies, they can mimic signs and symptoms of common disorders, with the risk of going unnoticed. For this reason, all health professionals should proceed with a reasonable suspicion when confronted with a patient with an apparently common disease with atypical symptoms and a non-conventional progress. The care given by the Primary Care team along with othe...
Source: Atencion Primaria - January 28, 2013 Category: Primary Care Authors: Morales-Piga A, García Ribes M, Arribas Álvaro P, Casado Álvaro C, Posada de La Paz M, Bachiller-Corral J Tags: Aten Primaria Source Type: research
Genetic abnormalities in Fibrodysplasia Ossificans Progressiva.
Abstract Fibrodysplasia ossificans progressiva (FOP), characterized by congenital malformation of bones, is an autosomal dominant disorder. This is a rare genetic disorder and its worldwide prevalence is approximately 1/2,000,000. There is no ethnic, racial, gender, or geographic predilection to FOP. It is regarded as one of the intractable disorders, which is not only an extremely disabling disease but also a condition of considerably shortened lifespan. Although the genetic defects of FOP are not completely known, several clinical and animal model studies have implicated that mutations in bone morphogenetic prote...
Source: Genes and Genetic Systems - December 24, 2012 Category: Genetics & Stem Cells Authors: Miao J, Zhang C, Wu S, Peng Z, Tania M Tags: Genes Genet Syst Source Type: research
Intrathoracic Fibrodysplasia Ossificans Progressiva.
Abstract Fibrodysplasia ossificans progressiva is an extremely rare disease that is usually seen in the form of sporadic cases and seems to be localized outside of the thoracic cavity. Inflammation and trauma are accused in the etiology, and too many diagnostic mistakes are done. The disease, which may present genetic transmission and has not a definitive treatment, was seen as an intrathoracic mass for the first time. Intrathoracic mass was excised, and the cure was achieved in our patient, who was defined to be sporadic as a result of familial screening. PMID: 23196878 [PubMed - as supplied by publisher] (Sou...
Source: The Thoracic and Cardiovascular Surgeon - November 29, 2012 Category: Cardiovascular & Thoracic Surgery Authors: Ozkan S, Alp E, Demirağ F, Yazıcı U, Karaoğlanoğlu N Tags: Thorac Cardiovasc Surg Source Type: research
Structural Insights into ALK2 Activation in FOP [Molecular Bases of Disease]
Bone morphogenetic protein (BMP) receptor kinases are tightly regulated to control development and tissue homeostasis. Mutant receptor kinase domains escape regulation leading to severely degenerative diseases and represent an important therapeutic target. Fibrodysplasia ossificans progressiva (FOP) is a rare but devastating disorder of extraskeletal bone formation. FOP-associated mutations in the BMP receptor ALK2 reduce binding of the inhibitor FKBP12 and promote leaky signaling in the absence of ligand. To establish structural mechanisms of receptor regulation and to address the effects of FOP mutation, we determined th...
Source: Journal of Biological Chemistry - October 26, 2012 Category: Chemistry Authors: Chaikuad, A., Alfano, I., Kerr, G., Sanvitale, C. E., Boergermann, J. H., Triffitt, J. T., von Delft, F., Knapp, S., Knaus, P., Bullock, A. N. Tags: Protein Structure and Folding Source Type: research
Clinically applicable antianginal agents suppress osteoblastic transformation of myogenic cells and heterotopic ossifications in mice
Abstract Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder characterized by progressive heterotopic ossification. FOP is caused by a gain-of-function mutation in ACVR1 encoding the bone morphogenetic protein type II receptor, ACVR1/ALK2. The mutant receptor causes upregulation of a transcriptional factor, Id1. No therapy is available to prevent the progressive heterotopic ossification in FOP. In an effort to search for clinically applicable drugs for FOP, we screened 1,040 FDA-approved drugs for suppression of the Id1 promoter activated by the mutant ACVR1/ALK2 in C2C12 cells. ...
Source: Journal of Bone and Mineral Metabolism - September 25, 2012 Category: Orthopaedics Tags: Journal of Bone and Mineral Metabolism Source Type: research
The complex craniofacial signature of fibrodysplasia ossificans progressiva: Whose handwriting is it?
(Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 17, 2012 Category: Genetics & Stem Cells Authors: Peter Hammond, Michael Suttie, Raoul C. Hennekam, Judith Allanson, Eileen M. Shore, Frederick S. Kaplan Tags: Correspondence Source Type: research
The signature of craniofacial deformation in fibrodysplasia ossificans progressiva
(Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 17, 2012 Category: Genetics & Stem Cells Authors: Daniel Rocha Carvalho, Luciano Farage, Carlos Eduardo Speck‐Martins Tags: Correspondence Source Type: research
T.O.2 Allele-specific silencing against the ALK2 mutants, R206H and G356D, in fibrodysplasia ossificans progressiva (FOP)
Abstract: Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant congenital disorder characterized by postnatal progressive heterotopic ossification in soft tissues, especially skeletal muscle. In FOP, acute heterotopic ossification is induced by muscle injury, such as accidental trauma or surgical operations. Currently, no definitive treatment exists for FOP. The activin receptor type IA/ activin-like kinase 2 (ACVR1/ALK2) gene has been identified as the responsible gene for both familial and sporadic cases of FOP, and disease-associated ALK2 mutations have been found. ALK2 protein, which is one of the signa...
Source: Neuromuscular Disorders - August 31, 2012 Category: Neurology Authors: H. Furuya, M. Takahashi, T. Katagiri, H. Hohjoh Source Type: research
The danger of biopsy in fibrodysplasia ossificans progressiva
A 2-year-old girl presented with episodic soft tissue swellings for over a year and polyarticular stiffness for half a year. The swellings were painful and mainly involved her head, neck and back region (figure 1). Her neck and shoulders had very limited mobility. Malformations of the great toes were discovered during the physical examination (figure 2). The biopsy of the cephalic swelling done in the local hospital suggested aggressive juvenile fibromatosis, but the swelling enlarged rapidly immediately after the biopsy (figure 3). Fibrodysplasia ossificans progressiva (FOP) was suspected, and the diagnosis was confirmed ...
Source: Archives of Disease in Childhood - August 30, 2012 Category: Pediatrics Authors: Zan, X., Wang, J., You, C. Tags: Miscellaneous Source Type: research
Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects
We report the characteristics of FOP in an endogenous Spanish population. ► The majority of “classic FOP” cases display the c.617G>A mutation in the ACVR1 gene. ► Genotype-phenotype correlation exists between ACVR1 mutations and clinical traits. (Source: Bone)
Source: Bone - August 1, 2012 Category: Orthopaedics Authors: A. Morales-Piga, J. Bachiller-Corral, M.J. Trujillo-Tiebas, A. Villaverde-Hueso, M.L. Gamir-Gamir, V. Alonso-Ferreira, M. Vázquez-Díaz, M. Posada de la Paz, C. Ayuso-García Tags: Articles Source Type: research
Facial morphology and occlusion of a patient with fibrodysplasia ossificans progressiva (FOP): a case report
ABSTRACTFibrodysplasia ossificans progressiva (FOP) is a rare disease characterized by postnatal heterotopic ossification (HO). When HO affects the masticatory muscles, mouth opening becomes restricted. This paper presents the changes in facial morphology and occlusion of a patient with FOP who was followed from the age of 8 to age 21. At the initial examination, he had a severely protruded maxilla and Angle Class II Division 1 malocclusion. His mouth opening was restricted (5.0 mm). He had a large overjet and this enabled him to clean his teeth and to eat. Orthodontic correction was not planned, and his facial growth was ...
Source: Special Care in Dentistry - July 11, 2012 Category: Dentistry Authors: Takafumi Susami, Yoshiyuki Mori, Kazumi Tamura, Kazumi Ohkubo, Kouhei Nagahama, Naoko Takahashi, Natsuko Uchino, Kiwako Uwatoko, Nobuhiko Haga, Tsuyoshi Takato Tags: ARTICLE Source Type: research
Neurological symptoms in individuals with fibrodysplasia ossificans progressiva
Abstract Fibrodysplasia ossificans progressiva (FOP), a rare, disabling condition caused by gain-of-function mutations of a bone morphogenetic protein (BMP) type I receptor, leads to episodes of heterotopic ossification and resultant immobility. Neurological problems have not been associated with FOP, but neurological symptoms are commonly reported by FOP patients. To determine the prevalence of neurological symptoms and their characteristics in individuals with FOP, we conducted a survey of the 470 patient members of the International FOP Association (IFOPA) using a questionnaire about neurological symptoms...
Source: Journal of Neurology - June 29, 2012 Category: Neurology Tags: Journal of Neurology Source Type: research
CNS demyelination in fibrodysplasia ossificans progressiva
Abstract Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder of progressive heterotopic ossification (HO) caused by a recurrent activating mutation of ACVR1/ALK2, a bone morphogenetic protein (BMP) type I receptor. FOP is characterized by progressive HO, which is associated with inflammation in the setting of dysregulated BMP signaling, however, a variety of atypical neurologic symptoms are also reported by FOP patients. The main objective of this study is to investigate the potential underlying mechanism that is responsible for the observed atypical neurologic symptoms. We evaluated two m...
Source: Journal of Neurology - June 26, 2012 Category: Neurology Tags: Journal of Neurology Source Type: research
Interaction of Tmem119 and the bone morphogenetic protein pathway in the commitment of myoblastic into osteoblastic cells
In conclusion, Tmem119 levels were increased by the FOP-associated constitutively activating ALK2 mutation in myoblasts. The data show that Tmem119 promotes the differentiation of myoblasts into osteoblasts and the interaction with the BMP signaling pathway likely occurs downstream of Runx2 and Osterix in myoblasts. Tmem119 may play a critical role in the commitment of myoprogenitor cells to the osteoblast lineage.Highlights: ► Tmem119 is increased by the fibrodysplasia ossificans progressiva-associated constitutively activating BMP type 1 receptor mutation in myoblastic cells. ► Tmem119 induces expression of osteoblas...
Source: Bone - May 24, 2012 Category: Orthopaedics Authors: Ken-ichiro Tanaka, Yoshifumi Inoue, Geoffrey N. Hendy, Lucie Canaff, Takenobu Katagiri, Riko Kitazawa, Toshihisa Komori, Toshitsugu Sugimoto, Susumu Seino, Hiroshi Kaji Tags: Articles Source Type: research
The face signature of fibrodysplasia ossificans progressiva
AbstractFibrodysplasia ossificans progressiva (FOP) causes extensive heterotopic bone formation due to heterozygous mutations in the glycine‐serine activation domain of ACVR1 (ALK2), a bone morphogenetic protein type I receptor. Anecdotal observations of facial similarity have been made by clinicians and parents, but no objective quantitative analysis of the faces of FOP patients has ever been undertaken. We delineated the common facial characteristics of 55 individuals with molecularly confirmed FOP by analyzing their face signature (face shape difference normalized against age and sex matched controls) and associated f...
Source: American Journal of Medical Genetics Part A - May 11, 2012 Category: Genetics & Stem Cells Authors: Peter Hammond, Michael Suttie, Raoul C. Hennekam, Judith Allanson, Eileen M. Shore, Frederick S. Kaplan Tags: Research Article Source Type: research
Evaluation of 20 years experience of fibrodysplasia ossificans progressiva in Iran: lessons for early diagnosis and prevention
Abstract Fibrodysplasia ossificans progressiva (FOP) is a rare genetic inflammatory disorder characterized by progressive heterotopic ossification presenting as recurrent soft tissue masses and swelling which may cause disabling, restricted joint mobility. Congenital malformations of the hallux are characteristic features of classic FOP, predating the appearance of disabling features. As no definite treatment is available, the early diagnosis and prevention of exacerbating factors may lead to significant benefits in terms of the life quality of patients. A retrospective study of 12 consecutive FOP patients r...
Source: Clinical Rheumatology - April 23, 2012 Category: Rheumatology Tags: Clinical Rheumatology Source Type: research
An unusual case of adult onset progressive heterotopic ossification suggesting a variant form of fibrodysplasia ossificans progressiva.
We report a 47-year-old man with adult-onset progressive HO around the bilateral pelvic and shoulder girdles and thoracolumbar spine, which suggested a variant form of FOP. Although surgical excision is considered counterproductive in FOP, our patient showed improvement in his shoulder movement following surgery. Other management strategies, including surgery around the hips, indomethacin prophylaxis, irradiation and bisphosphonate therapy, did not improve his range of movement or disease progression. PMID: 22511070 [PubMed - in process] (Source: Singapore Medical Journal)
Source: Singapore Medical Journal - April 1, 2012 Category: Journals (General) Authors: Jayasundara JA, Punchihewa GL, de Alwis DS Tags: Singapore Med J Source Type: research
Late formation of heterotopic bone following an adductor origin avulsion injury
We present the case of a 47 year old man, who developed extensive HO in the adductor muscles several years after a skiing accident. (Source: Injury)
Source: Injury - March 30, 2012 Category: Orthopaedics Authors: Karthig Rajakulendran, Richard E. Field Tags: Case Reports & Technical Notes Source Type: research
Hyperactive BMP signaling induced by ALK2R206H requires type II receptor function in a Drosophila model for classic fibrodysplasia ossificans progressiva
AbstractOverexpression of human GATA4 in the Drosophila eyes through the GMR‐GAL4 driver. All flies show narrow eyes. The original photograph has been duplicated for esthetic purposes to create 6 panels. From Amodio et al., Developmental Dynamics 241:205‐213, 2012. (Source: Developmental Dynamics)
Source: Developmental Dynamics - December 20, 2011 Category: Molecular Biology Authors: Viet Q. LeKristi A. Wharton Tags: Cover Source Type: research
Neurosurgical management of symptomatic thoracic spinal ossification in a patient with fibrodysplasia ossificans progressiva.
Abstract Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by heterotopic ossification of soft connective and muscle tissues, often as the result of minor trauma. The sequelae include joint fusion, accumulation of calcified foci within soft tissues, thoracic insufficiency syndrome, and progressive immobility. The authors report on a patient with FOP who developed severe spinal canal stenosis in the thoracic spine causing substantial myelopathy. He underwent a thoracic laminectomy and resection of a large posterior osteophyte. Unique considerations are required in treating patients...
Source: Journal of Neurosurgery.Spine - December 16, 2011 Category: Neurosurgery Authors: Grobelny BT, Rubin D, Fleischut P, Rubens E, Mack PF, Fink M, Placantonakis DG, Elowitz EH Tags: J Neurosurg Spine Source Type: research
Fibrodysplasia Ossificans Progressiva: Clinical and Genetic Aspects
Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. The worldwide prevalence is approximately 1/2,000,000. There is no ethnic, racial, gender, or geographic predilection to FOP. Children who have FOP appear normal at birth except for congenital malformations of the great toes. During the first decade of life, sporadic episodes of painful soft tissue swellings (flare-ups) occur which are often p...
Source: Orphanet Journal of Rare Diseases - December 1, 2011 Category: Internal Medicine Authors: Robert PignoloEileen ShoreFrederick Kaplan Source Type: research
Disease-causing allele-specific silencing against the ALK2 mutants, R206H and G356D, in fibrodysplasia ossificans progressiva
& H Hohjoh (Source: Gene Therapy)
Source: Gene Therapy - December 1, 2011 Category: Genetics & Stem Cells Authors: M TakahashiT KatagiriH FuruyaH Hohjoh Tags: allele-specific RNAi siRNA FOP ALK2 BMP signaling adverse effects Source Type: research
Fibrodysplasia ossificans progressiva: a blueprint for metamorphosis
The most important milestone in understanding a genetic disease is the identification of the causative mutation. However, such knowledge is often insufficient to decipher the pathophysiology of the disorder or to effectively treat those affected. Fibrodysplasia ossificans progressiva (FOP) is a rare, disabling, genetic disease of progressive heterotopic endochondral ossification (HEO) enabled by missense mutations that promiscuously and provisionally activate ACVR1/ALK2, a bone morphogenetic protein (BMP) type I receptor, in all affected individuals. While activating mutations of the ACVR1/ALK2 receptor are necessary, dise...
Source: Annals of the New York Academy of Sciences - November 1, 2011 Category: Science Authors: Frederick S. KaplanVitali Y. LounevHaitao WangRobert J. PignoloEileen M. Shore Source Type: research
Improvement of mouth opening for a patient with fibrodysplasia ossificans progressiva: a case report
ABSTRACTThe aim of this article is to describe the care of a patient with fibrodysplasia ossificans progressiva (FOP) and to provide dentists with a guide for how to safely care for patients with FOP. Treatment improved the patient's limited mouth opening.FOP is a rare autosomal dominant disorder characterized by congenital malformation of the fingers and toes by heterotopic ossification progressiva of the connective tissue. This ossification causes a limitation in osteoradicular mobility, mainly affecting the spine, shoulders, hips, and peripheral joints. The disease can manifest from pregnancy until adulthood, with no gr...
Source: Special Care in Dentistry - November 1, 2011 Category: Dentistry Authors: Júlia Maria BragaMaria Fernanda Andrade Marques SilvaLuis Cândido Pinto da SilvaPaulo Isaías SeraidarianRoberval de Almeida Cruz Tags: ARTICLE Source Type: research
Fibrodysplasia ossificans progressiva: anesthetic management in complex orthopedic spine procedures
Abstract: Fibrodysplasia ossificans progressiva (FOP) is a rare disorder of the connective tissue leading to progressive tissue ossification and immobilization. Soft-tissue trauma may exacerbate this condition, causing further ossification. Multisystem involvement includes restrictive lung disease, cervical ankylosis with limited mouth opening, and cardiac dysfunction. A 39-year-old woman with FOP presented with multiple orthopedic spine and femur fractures sustained from a fall. Anesthetic management was complicated by airway, pulmonary, and positioning challenges. Neuromonitoring allowed identification of spinal cord isc...
Source: Journal of Clinical Anesthesia - November 1, 2011 Category: Anesthesiology Authors: Reza Gorji, Fenghua Li, Robert Nastasi, Sarah Stuart Tags: Case Reports Source Type: research
Hyperactive BMP signaling induced by ALK2R206H requires type II receptor function in a Drosophila model for classic fibrodysplasia ossificans progressiva
We present our work as a compelling example for the use of Drosophila as a model organism to study the molecular underpinnings of a complex human syndrome such as FOP. Developmental Dynamics, 2011. © 2011 Wiley Periodicals, Inc. (Source: Developmental Dynamics)
Source: Developmental Dynamics - October 31, 2011 Category: Molecular Biology Authors: Viet Q. LeKristi A. Wharton Tags: Research Article Source Type: research
Restoration of normal BMP signaling levels and osteogenic differentiation in FOP mesenchymal progenitor cells by mutant allele-specific targeting
& E M Shore (Source: Gene Therapy)
Source: Gene Therapy - October 20, 2011 Category: Genetics & Stem Cells Authors: J KaplanF S KaplanE M Shore Tags: Allele-specific RNAi fibrodysplasia ossificans progressiva FOP heterotopic ossification bone morphogenetic protein ACVR1/ALK2 Source Type: research
Surgical Treatment Combined with NSAIDs in Fibrodysplasia Ossificans Progressiva.
We report a 10-year-old boy with FOP who underwent surgical management combined with non-steroidal anti-inflammatory drugs (NSAIDs). PMID: 21959193 [PubMed - as supplied by publisher] (Source: Annals of Thoracic and Cardiovascular Surgery)
Source: Annals of Thoracic and Cardiovascular Surgery - September 29, 2011 Category: Cardiovascular & Thoracic Surgery Authors: Seok Y, Cho S, Lee E Tags: Ann Thorac Cardiovasc Surg Source Type: research
Substance P signaling mediates BMP‐dependent heterotopic ossification
AbstractHeterotopic ossification (HO) is a disabling condition associated with neurologic injury, inflammation, and overactive bone morphogenetic protein (BMP) signaling. The inductive factors involved in lesion formation are unknown. We found that the expression of the neuro‐inflammatory factor Substance P (SP) is dramatically increased in early lesional tissue in patients who have either fibrodysplasia ossificans progressiva (FOP) or acquired HO, and in three independent mouse models of HO. In Nse‐BMP4, a mouse model of HO, robust HO forms in response to tissue injury; however, null mutations of the preprotachykinin ...
Source: Journal of Cellular Biochemistry - September 19, 2011 Category: Biochemistry Authors: Lixin KanVitali Y LounevRobert J. PignoloLishu DuanYijie LiuStuart R. StockTammy L. McGuireBao LuNorma P. GerardEileen M. ShoreFrederick S. KaplanJohn A. Kessler Tags: Article Source Type: research
Substance P signaling mediates BMP dependent heterotopic ossification
AbstractHeterotopic ossification (HO) is a disabling condition associated with neurologic injury, inflammation, and overactive BMP signaling. The inductive factors involved in lesion formation are unknown. We found that the expression of the neuro‐inflammatory factor Substance P (SP) is dramatically increased in early lesional tissue in patients who have either fibrodysplasia ossificans progressiva (FOP) or acquired HO, and in three independent mouse models of HO. In Nse‐BMP4, a mouse model of HO, robust HO forms in response to tissue injury; however null mutations of the preprotachykinin gene encoding SP prevent HO. I...
Source: Journal of Cellular Biochemistry - July 10, 2011 Category: Biochemistry Authors: Lixin KanVitali Y LounevRobert J PignoloLishu DuanYijie LiuStuart R StockTammy L McGuireBao LuNorma P GerardEileen M ShoreFrederick S KaplanJohn A Kessler Tags: Article Source Type: research
Fibrodysplasia ossificans progressiva (FOP) in South Africa: dental implications in 5 cases
Fibrodysplasia ossificans progressiva (FOP) is a severe genetic disorder in which progressive ossification of subcutaneous tissues leads to immobility and profound physical handicap. Dental management of affected persons may be constrained by impaired mobility of the temporomandibular joints. Equally, the traumatic aspects of dental intervention can exacerbate the ossification process. In the later stages of the disorder, thoracic immobility impairs pulmonary ventilation and compromises dental anesthesia.We have undertaken dental appraisal and treatment of 5 South Africans with FOP, with ages ranging from 2 to 52 years. Th...
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - June 13, 2011 Category: ENT & OMF Authors: Tina Roberts, Lawrence Stephen, Chris Scott, M. Urban, Stephen Sudi, Peter Beighton Tags: Medical Management and Pharmacology Update Source Type: research
Unusually severe limitation of the jaw attributable to fibrodysplasia ossificans progressiva: a case report with cone-beam computed tomography findings
We report a case of FOP presenting as severely limited TMJ movements owing to ectopic calcification of the left coronoid process. In addition to the clinical examination, panoramic radiography and cone-beam computed tomography images were obtained. The case is presented and the clinical and imaging findings, differential diagnosis, and treatment modalities are discussed. (Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics)
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - June 13, 2011 Category: ENT & OMF Authors: Kaan Orhan, Lokman Onur Uyanık, Erkan Erkmen, Yeliz Kilinc Tags: Oral and Maxillofacial Radiology Source Type: research
Early Clinical and Radiographic Characteristics in Fibrodysplasia Ossificans Progressiva: A Report of Two Cases
(Source: JBJS [Am])
Source: JBJS [Am] - May 17, 2011 Category: Orthopaedics Authors: Mishima, K., Kitoh, H., Katagiri, T., Kaneko, H., Ishiguro, N. Tags: Case Report Case Reports Source Type: research
Late‐onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis
(Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 11, 2011 Category: Genetics & Stem Cells Authors: Christopher P. BarnettManish DugarEric A. Haan Tags: Research Letter Source Type: research
Extraction of 6 Molars Under General Anesthesia in Patient With Fibrodysplasia Ossificans Progressiva
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder characterized by congenital malformation of the great toes and postnatal heterotopic ossification (HO). The incidence is 1 in 2 million people. HO is not apparent at birth but often appears within the first decade of life after inflammatory swelling of soft tissues such as the skeletal muscle, tendons, and ligaments. As HO progresses, the affected joints lose their mobility and movement becomes limited. Swelling with heat and pain (termed a “flare-up”) often precedes HO and can trigger it. Such flare-ups can be induced by even minor traum...
Source: Journal of Oral and Maxillofacial Surgery - May 8, 2011 Category: ENT & OMF Authors: Yoshiyuki Mori, Takafumi Susami, Nobuhiko Haga, Kazumi Tamura, Yuki Kanno, Hideto Saijo, Tsuyoshi Takato Tags: Anesthesia/Facial Pain Source Type: research
Progressive osseous heteroplasia in a 10-year-old male child
We report a sporadic case of progressive osseous heteroplasia (POH) in a 10-year-old male child who developed progressive ossification of the skin and deep connective tissue. The condition needs to be distinguished from other causes of childhood heterotopic ossification, such as fibrodysplasia ossificans progressiva, pseudohypoparathyroidism, and pseudopseudohypoparathyroidism. The cause of POH is an inactivating GNAS1 (guanine nucleotide-binding protein alpha-stimulating activity polypeptide 1) mutation caused only by paternal inheritance of the mutant allele. Most cases are sporadic and only 2 instances of familial trans...
Source: Table of Contents : Indian Journal of Orthopaedics : 2007 - 41(1) - April 25, 2011 Category: Orthopaedics Authors: Girish K SinghVikas Verma Source Type: research
Cytokine expression in muscle following traumatic injury
This study identifies other cell and tissue‐level interactions in traumatized muscle that should be investigated further to better define the etiology of HO. © 2011 Orthopaedic Research Society Published by Wiley Periodicals, Inc. J Orthop Res (Source: Journal of Orthopaedic Research)
Source: Journal of Orthopaedic Research - March 29, 2011 Category: Orthopaedics Authors: Wesley M. JacksonAmber B. AragonJun OnoderaSteven M. KoehlerYoungmi JiJamie D. Bulken‐HooverJared A. VoglerRocky S. TuanLeon J. Nesti Tags: Research Article Source Type: research