Fibrodysplasia Ossificans Progressiva
This page shows you the latest news and research items in this category.
The girl whose joints and muscles are turning to STONE: Horrific rare condition causes sufferers to become imprisoned in a second skeleton - which eventually suffocates them
Ni Min, 14, from China's Sichuan Province, suffers from the condition fibrodysplasia ossificans progressiva (FOP), also dubbed 'stone man' syndrome. (Source: the Mail online | Health)
Source: the Mail online | Health - September 25, 2014 Category: Consumer Health News Source Type: news
Relationship of 3,5-Diaryl-2-aminopyridine
ALK2 Inhibitors Reveals Unaltered Binding Affinity for Fibrodysplasia
Ossificans Progressiva Causing Mutants
Journal of Medicinal ChemistryDOI: 10.1021/jm501177w (Source: Journal of Medicinal Chemistry)
Source: Journal of Medicinal Chemistry - September 4, 2014 Category: Chemistry Authors: Agustin H. Mohedas, You Wang, Caroline E. Sanvitale, Peter Canning, Sungwoon Choi, Xuechao Xing, Alex N. Bullock, Gregory D. Cuny and Paul B. Yu Source Type: research
ACVR1 in FOP and DIPG
Whole-genome sequencing studies have recently identified a quarter of cases of the rare childhood brainstem tumor diffuse intrinsic pontine glioma to harbor somatic mutations in ACVR1. This gene encodes the type I bone morphogenic protein receptor ALK2, with the residues affected identical to those that, when mutated in the germline, give rise to the congenital malformation syndrome fibrodysplasia ossificans progressiva (FOP), resulting in the transformation of soft tissue into bone. This unexpected link points toward the importance of developmental biology processes in tumorigenesis and provides an extensive experience in...
Source: Cancer Research - September 1, 2014 Category: Cancer & Oncology Authors: Taylor, K. R., Vinci, M., Bullock, A. N., Jones, C. Tags: Review Source Type: research
Clementia begins Phase II trial of palovarotene to treat fibrodysplasia ossificans progressiva
Canada-based Clementia Pharmaceuticals has started a double-blind, placebo-controlled Phase II clinical trial of palovarotene to treat fibrodysplasia ossificans progressiva (FOP), a rare, severely disabling genetic disease. (Source: Drug Development Technology)
Source: Drug Development Technology - July 14, 2014 Category: Pharmaceuticals Source Type: news
ALK2 Signaling Enhances Osteoclast Formation [Molecular Bases of Disease]
In conclusion, this study demonstrated that the causal mutation transfection of fibrodysplasia ossificans progressiva in myoblasts enhanced the formation of osteoclasts from its precursor through TGF-β in muscle tissues. (Source: Journal of Biological Chemistry)
Source: Journal of Biological Chemistry - June 12, 2014 Category: Chemistry Authors: Yano, M., Kawao, N., Okumoto, K., Tamura, Y., Okada, K., Kaji, H. Tags: Cell Biology Source Type: research
Evaluation of the Cellular Origins of Heterotopic Ossification.
Abstract EDUCATIONAL OBJECTIVES As a result of reading this article, physicians should be able to: 1. Update the current knowledge about candidate cell populations as heterotopic ossification (HO) contributors. 2. Understand the potential limitations of the experimental designs and techniques underlying the identification of putative HO contributors. 3. Clarify the confusion about the phenotypes of candidate populations in the literature. 4. Contrast the fundamental cellular differences between HO and normal skeletogenesis to identify potential disease-specific targets. Heterotopic ossification (HO), acquired or he...
Source: Orthopedics - May 1, 2014 Category: Orthopaedics Authors: Kan L, Kessler JA Tags: Orthopedics Source Type: research
Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma
We report the identification of recurrent activating mutations in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, in 21% of DIPG samples. Strikingly, these somatic mutations (encoding p.Arg206His, p.Arg258Gly, p.Gly328Glu, p.Gly328Val, p.Gly328Trp and p.Gly356Asp substitutions) have not been reported previously in cancer but are identical to mutations found in the germ line of individuals with the congenital childhood developmental disorder fibrodysplasia ossificans progressiva (FOP) and have been shown to constitutively activate the BMP–TGF-β signaling pathway. These mutations r...
Source: Nature Genetics - April 6, 2014 Category: Genetics & Stem Cells Authors: Kathryn R TaylorAlan MackayNathalène TruffauxYaron S ButterfieldOlena MorozovaCathy PhilippeDavid CastelCatherine S GrassoMaria VinciDiana CarvalhoAngel M CarcabosoCarmen de TorresOfelia CruzJaume MoraNatacha Entz-WerleWendy J IngramMichelle MonjeDarren Tags: Letter Source Type: research
Clinical Aspects And Conservative Dental Management of a Patient With Fibrodysplasia Ossificans Progressiva
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by skeletal malformations and ectopic ossifications in skeletal muscles, tendons, ligaments, and aponeurosis. Exacerbation of these ossifications can be caused by dental treatment. Man, 26, with a diagnosis of FOP was referred for dental treatment. Conservative dental procedures, such as oral hygiene instructions and recurrent topical fluoride applications, were performed in addition to endodontic and restorative treatments. Brief dental appointments were conducted without using regional anesthesia or dental dam clamps. The dental chair was...
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - January 21, 2014 Category: ENT & OMF Authors: CLARISSA PESSOA FERNANDES, FRANCISCO ARTUR FORTE OLIVEIRA, MALENA REGINA FREITAS E SILVA, RENATA VERAS CARVALHO MOURÃO OKA, CAMILA CARVALHO DE OLIVEIRA, MÁRIO ROGÉRIO LIMA MOTA, ANA PAULA NEGREIROS NUNES ALVES Tags: Online Only Articles Source Type: research
Stem cells used to model disease that causes abnormal bone growth (EurekAlert, 7 January 2014)
A US-Japan study published in the Orphanet Journal of Rare Diseases uses stem cells obtained from patients with the rare genetic condition fibrodysplasia ossificans progressiva to model abnormal bone growth, which the authors suggest could also model similar destructive processes occuring following major trauma. Full article (Source: Society for Endocrinology)
Source: Society for Endocrinology - January 9, 2014 Category: Endocrinology Source Type: news
[Erratum]A Correction to the Editors' Choice Summary Titled "Keeping Bone Where Bone Belongs" by Leslie K. Ferrarelli
Activating mutations in GNAS were mistakenly attributed as causing fibrodysplasia ossificans progressiva, instead of fibrous dysplasia. (Source: Signal Transduction Knowledge Environment)
Source: Signal Transduction Knowledge Environment - December 18, 2013 Category: Science Authors: Nancy Gough (mailto:ngough at aaas.org) Source Type: news
Induced pluripotent stem cells from patients with human fibrodysplasia ossificans progressiva show increased mineralization and cartilage formation
Conclusions: Our findings establish a FOP disease cell model for in vitro experimentation and provide a proof-of-concept for using human iPS cell models to understand human skeletal disorders. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 9, 2013 Category: Internal Medicine Authors: Yoshihisa MatsumotoYohei HayashiChristopher SchlieveMakoto IkeyaHannah KimTrieu NguyenSalma SamiShiro BabaEmilie BarruetAkira NasuIsao AsakaTakanobu OtsukaShinya YamanakaBruce ConklinJunya ToguchidaEdward Hsiao Source Type: research
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
Fibrodysplasia ossificans progressiva: a case report.
Abstract Fibrodysplasia ossificans progressiva or myositis ossificans is a rare disease characterised by bony deposits or the ossification of soft tissues. It transforms skeletal muscles, tendons, ligaments, fascia, and aponeuroses into heterotopic bony deposits through an endochondral process. This leads to progressive immobility; patients are usually wheelchair-bound by the second decade of life and die of thoracic insufficiency by the fourth decade of life. There is no treatment apart from symptomatic treatment with steroids during flare-ups. Excision of heterotopic ossification is not recommended as it can prov...
Source: Journal of Orthopaedic Surgery - December 1, 2013 Category: Orthopaedics Authors: Dhamangaonkar AC, Tawari AA, Goregaonkar AB Tags: J Orthop Surg (Hong Kong) 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 - November 1, 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 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
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
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
Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects
We aimed to investigate the epidemiological determinants, clinical features, and genetic pattern of FOP in our country by evaluating the entire population of patients identified according to a combination of methods. To achieve this, 24 individuals were confirmed as FOP cases, 17 of whom were alive at the end of 2011 (point prevalence=0.36×10−6). The gender distribution (male/female ratio=13/11) and the concurrent range of ages (from 4 to 53years; mean±SD: 30.2±13.8) are in agreement with similar reports. (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: Original Full Length Article Source Type: research
Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects
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 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 30, 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
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: 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
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