Diagnosis Of Fibrodysplasia Ossificans Progressiva Research Articles

Fibrodysplasia ossificans progressiva caused by a different mutation in a stray cat

AbstractA 2‐year‐old, unneutered, female, short‐haired stray cat was referred for general examination. A physical examination revealed gait abnormalities characterised by short strides and stiffness in all limbs. Radiographs showed malformations with excessive mineralisation affecting the shoulders and stifle joints. To confirm the diagnosis of fibrodysplasia ossificans progressiva, total RNA was isolated from blood samples of the cats (one cat with fibrodysplasia ossificans progressiva and one healthy cat). A single missense mutation was found in the coding sequence of the ACVR1 gene of the cat with fibrodysplasia ossificans progressiva. In this mutation, a single base was changed from guanine to cytosine. After this base change, the amino acid tryptophan replaced the amino acid cysteine. This is the first report that indicates cats with fibrodysplasia ossificans progressiva that do not show signs similar to the characteristic findings in humans have a different mutation.

Giant thymic cyst overclouding the diagnosis of fibrodysplasia ossificans progressiva: an inconvenient coincidence.

Giant thymic cyst overclouding the diagnosis of fibrodysplasia ossificans progressiva: an inconvenient coincidence.

Challenges in Diagnosing Fibrodysplasia Ossificans Progressiva: A Case Report.

A 5-year-old boy presented with multiple bony swellings in the dorsal spine region, restricted left shoulder movement, and a previous misdiagnosis of hereditary multiple exostoses (HMEs) resulting in unnecessary excision of the right scapular lesion. Clinical examination revealed hallux valgus, brachydactyly, and limited neck movement. Radiography and computed tomography confirmed a diagnosis of fibrodysplasia ossificans progressiva (FOP). This case report underscores the importance of accurate diagnosis and differentiation between FOP and HME. Hallux valgus, brachydactyly, and restricted neck movement suggested FOP. It is paramount for orthopaedic surgeons to exclude rare disorders before performing any interventions. Biopsies or resections of bone formation areas should be avoided for patients with FOP.

Improving the Diagnosis of Fibrodysplasia Ossificans Progressiva

Fibrodysplasia ossificans progressiva (FOP) is a distinctive but often-overlooked disorder, owing to its extreme rarity and insidious presentation. However, the signs of classic FOP are evident at birth, and the disease clinically manifests typically within the first decade of life. The characteristic and invariably early sign of FOP is congenital malformation of the great toes (Figure 1). 1 Pignolo R.J. Wang H. Kaplan F.S. Fibrodysplasia ossificans progressiva (FOP): a segmental progeroid syndrome. Front Endocrinol (Lausanne). 2020; 10: 908 Crossref PubMed Scopus (12) Google Scholar , 2 Pignolo R.J. Shore E.M. Kaplan F.S. Fibrodysplasia ossificans progressiva: clinical and genetic aspects. Orphanet J Rare Dis. 2011; 6: 80 Crossref PubMed Scopus (159) Google Scholar , 3 National Organization for Rare Disorders [homepage on the Internet]. 2020https://rarediseases.org/rare-diseases/fibrodysplasia-ossificans-progressiva/ Google Scholar In 50% of cases, the thumbs are similarly affected. Other findings at birth may include a broad femoral neck and bony malformation of the cervical spine. 4 Meyers C. Lisiecki J. Miller S. Levin A. Fayad L. Ding C. et al. Heterotopic ossification: a comprehensive review. JBMR Plus. 2019; 3: e10172 Crossref PubMed Scopus (95) Google Scholar , 5 The International Clinical Council on FOP (ICC) and Consultants [homepage on the Internet]. 2019https://d3n8a8pro7vhmx.cloudfront.net/ifopa/pages/212/attachments/original/1559059247/FOP_TREATMENT_GUIDELINES_June_2019.pdf Google Scholar , 6 International Fibrodysplasia Ossificans Progressiva Association (IFOPA) [homepage on the Internet]. 2020www.ifopa.org/what_is_fop Google Scholar Heterotopic ossification, the abnormal growth of bone in extraskeletal tissues, typically is not present at birth, although areas of soft-tissue swelling may be evident in neonates. Infants and children with FOP may present to pediatric orthopedic surgeons with progressive “bunions” or malformed great toes. However, it is rare that the disease is recognized at this stage. In most cases, unfortunately, the diagnosis of FOP is not made until affected persons have consulted several physicians and the associated deformity and disability are undeniable. 7 Kapan F. Xu M. Glaser D.L. Collins F. Connor M. Kitterman J. et al. Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics. 2008; 121: e1295-e1300 Crossref PubMed Scopus (113) Google Scholar It is estimated that 3500-4000 people worldwide have FOP, although the disorder has been diagnosed in only about 900 people. 3 National Organization for Rare Disorders [homepage on the Internet]. 2020https://rarediseases.org/rare-diseases/fibrodysplasia-ossificans-progressiva/ Google Scholar Although there are currently no approved treatments for FOP, early recognition and diagnosis is important to prevent unnecessary trauma, such as intramuscular vaccination or surgery, that may induce disease flares.

Fibrodysplasia ossificans progressiva - a case report with brief literature review

Fibrodysplasia ossificans progressiva (FOP) is an exceptionally uncommon autosomal dominant genetic disorder characterized by defects in skeletogenesis manifesting as congenital malformations of the great toes and progressive postnatal induction of disabling ectopic endochondral osteogenesis. During early course of disease patients of FOP are often misdiagnosed as having soft tissue sarcoma or aggressive juvenile fibromatosis and hence sometimes undergo invasive procedures that usually lead to the speeding up of disease process. Therefore early correct diagnosis of fibrodysplasia ossificans progressiva is necessary to prevent additional iatrogenic insult. The case study is being presented to highlight the clinical features of fibrodysplasia ossificans progressiva, difficult aspect of diagnosis and management with brief literature review.

Fibrodysplasia ossificans progressiva in a cat

A young, female Maine coon cat was referred for investigation of anorexia, anaemia and limited mobility. On CT of the limbs, thorax and abdomen, there was evidence of multiple, mineralised...

Fibrodysplasia Ossificans Progressiva (Stoneman Syndrome) – A Rare Skeletal Dysplasia

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare skeletal dysplasia with characteristic imaging and clinical findings, which includes bilateral hallux valgus, monophalangic great toes with short and stout first metatarsals, heterotopic ossification of muscles and connective tissues, short broad femoral necks, pseudo exostoses, short and stout first metacarpals, C2-C7 facet joint fusion, large posterior elements, and tall narrow vertebral bodies. We present a case of an 8-year-old male child who came with complaints of multiple progressive hard swellings over the neck, chest, and abdomen with restriction of movements for a duration of 2 years and deformity of great toe on both sides since birth. On clinical examination, the patient had multiple non-tender hard bony swellings in neck, chest, and abdominal wall with bilateral hallux valgus deformity. Radiographic examination revealed well- defined rib-like ectopic osseous outgrowths in the posterior aspect of neck, soft tissues of chest and abdominal wall, bilateral hallux valgus, monophalangic great toe and short first metatarsals with normal cervical vertebral bodies, posterior elements, short first metacarpals bilaterally, and pseudo exostoses in medial aspect of upper one-third of both tibia. With the above classic findings, the diagnosis of FOP was made. Early diagnosis of the condition is very important in these cases as intramuscular injections, biopsies, and trivial trauma can exacerbate the condition with painful flare-ups.

Diagnosis of fibrodysplasia ossificans progressiva (FOP) using IPS technology

Diagnosis of fibrodysplasia ossificans progressiva (FOP) using IPS technology

Age of diagnosis of fibrodysplasia ossificans progressiva has a variable onset and a misleading phenotype

Age of diagnosis of fibrodysplasia ossificans progressiva has a variable onset and a misleading phenotype

開口障害を伴った進行性骨化性線維異形成症の1例

Fibrodysplasia ossificans progressiva (FOP) is a rare hereditary disease characterized by heterotopic ossification of skeletal muscles, tendons, and ligaments. In the oral and maxillofacial region, FOP leads to eating disorders caused by a limited range of mouth opening. At a late stage, respiratory function is impaired by limited movement of the thorax. We reported a rare case of FOP with trismus and discuss the related literature. A 28-year-old woman was referred to our hospital because of trismus in December 2011. She had heterotopic ossification in the left scapula and was given a diagnosis of FOP at the age of 17 years. Extraoral examination showed temporary pain extending from the left temporomandibular joint to the buccal region when she opened the mouth. A maximal mouth opening of 3 mm was confirmed. Intraoral examination showed an inflammatory reaction at the gingiva of the maxillary left third molar. Magnetic resonance imaging showed high intensity of the left lateral pterygoid muscle. Nonsteroidal anti-inflammatory drugs and injectable bisphosphonates were administered, followed by mouth opening training. Her maximal mouth opening markedly improved to 22 mm 1 year after initial presentation, without any recrudescence.

Fibrodysplasia ossificans progressiva—primum non nocere

The article by Taslimi et al., describing their experience with a patient of fibrodysplasia ossificans progressiva and the accompanying literature review, was informative and concise [1]. We would like to re-emphasize the age old dictum of “primum non nocere” (first, do no harm) by sharing our recent experience with this currently incurable disease. A 16-year-old male presented with insidious onset dysphagia for 20 days which was more for solids. He had a diffuse swelling over the anterior part of neck, which was hard, inflamed, red and tender. There was no preceding trauma, fever, or similar family history. Radiograph of neck showed soft tissue calcification anteriorly (asterisk), compressing the pharyngeal structures (arrow), and ossification of the neck muscles posteriorly (arrowhead, Fig. 1). Patient had hallux valgus deformity, multiple bony swellings over back thigh (Fig. 2) and a chest radiograph showed ossified paraspinal muscles (Fig. 3) and kyphoscoliosis. The boy has been symptomatic since 5 years of age with painful swelling and induration followed by ossification occurring over various parts of body either spontaneously or following trauma, predominantly involving the trunk and later the limbs as well. At presentation, he had severe restriction of movement of the neck, chest, and spine. A clinical diagnosis of fibrodysplasia ossificans progressiva was made. He was managed with analgesics, oral steroids for acute inflammation and nasogastric tube for feeding [2]. Fibrodysplasia ossificans progressiva presenting as dysphagia has not been reported before. The case highlights the potential for clinical diagnosis in this disease. As it has been pointed out rightly, the extreme rarity of the disease leads to frequent misdiagnoses and hence unnecessary interventions. At the community level and primary health-care level, a genetic diagnosis may not be always possible, therefore, lies the importance of clinical diagnosis. In patients presenting with unexplained heterotopic ossification, an attempt to look

Evaluation of 20 years experience of fibrodysplasia ossificans progressiva in Iran: lessons for early diagnosis and prevention

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 referred to and admitted in the rheumatology unit at an urban tertiary care academic center between 1991 and 2011. Data, such as age, gender, and past medical history, were collected from the medical history, physical examination, and skeletal survey in order to characterize the clinical presentations. All 12 children (six boys and six girls; ages 2.0-13.5 years) had congenital malformations of the great toes (microdactyly and hallux valgus deformity), in addition to heterotopic ossification presenting as multiple soft tissue tumor-like swellings. Spinal involvement, most notably in the cervical region, suggestive of an early FOP, was present in 83.3 %. Eleven patients (91.6 %) had a prior history of direct physical trauma, while 7 of 11 (63.6 %) had undergone invasive diagnostic procedures, both correlating with the exacerbations of their condition. Clinical awareness of fibrodysplasia ossificans progressiva and its early diagnostic features, particularly congenital malformations of the hallux, during a thorough neonatal examination may lead to an early diagnosis preventing the development of disabling, practically irreversible lesions of heterotopic ossification. Genetic and molecular studies can play a considerable role in the diagnosis of FOP in suspected cases. Early institution of prophylactic and precautionary measures, such as categorical avoidance of trauma and invasive procedures, can significantly reduce the debilitating acute exacerbations of the condition.

Fibrodysplasia ossificans progressiva: Middle-age onset of heterotopic ossification from a unique missense mutation (c.974G > C, p.G325A) in ACVR1

Fibrodysplasia ossificans progressiva (FOP) is the rare mendelian disease characterized by congenital malformation of the great toes preceding heterotopic ossification (HO) and caused by heterozygous activating mutation of the ACVR1 gene, which encodes the ALK2 receptor for bone morphogenetic proteins. Early adult life is the latest reported presentation for the HO of FOP. The patient of our report first developed HO from FOP at 47 years of age. She had congenital hallux valgus deformity but despite various traumas was previously well. HO began several months after a brief, seemingly viral, illness. Sudden and progressive pain, redness, warmth, and swelling appeared over a scapula. Computed tomography was remarkable for asymmetrical thickening of muscles and fascial planes. At first, the significance of the great toe abnormalities went unrecognized elsewhere, and biopsy for suspected inflammatory fasciitis revealed proliferating fibroblasts with scattered inflammatory cells. Prednisone improved her symptoms but, when tapered, swellings developed on her chest, posterior thorax, and flank, and FOP was diagnosed. Methylprednisolone, methotrexate, and alendronate seemed to help her symptoms, but the lesions worsened and HO appeared and rapidly progressed. Mutation analysis of the ACVR1 gene revealed heterozygosity for a unique missense defect (c.974G>C, p.G325A) that predicted a conservative (mild) amino acid change within the kinase domain of ALK2. Hence, HO in FOP can be delayed until middle-age, and perhaps provoked by a viral illness. Nevertheless, progression of HO can then be rapid despite bisphosphonate and high-dose immunosuppressive therapy. Possibly, our patient's late-onset HO reflects her mild alteration of ALK2 or some protective and therapeutically useful genetic, epigenetic, or nongenetic factor. Recognition of presymptomatic individuals or late-onset HO in FOP should have these patients avoid traumas, treatments, and maybe viral illnesses that can initiate or exacerbate the HO. If the diagnosis of FOP is unclear, ACVR1 mutation analysis is available at certified laboratories.

Early Clinical and Radiographic Characteristics in Fibrodysplasia Ossificans Progressiva

Fibrodysplasia ossificans progressiva is an extremely rare and disabling genetic condition characterized by progressive heterotopic ossification of soft tissues such as muscles, ligaments, tendons, fasciae, and aponeuroses. The prevalence of fibrodysplasia ossificans progressiva is estimated to be about one in 2 million individuals1. Heterotopic ossification in fibrodysplasia ossificans progressiva usually begins in the first decade of life with the episodic development of inflammatory fibroproliferative masses in the axial skeleton. Most patients with fibrodysplasia ossificans progressiva are misdiagnosed as having soft-tissue sarcoma or aggressive juvenile fibromatosis before the definitive appearance of heterotopic ossification and undergo invasive procedures that usually lead to the acceleration of ossification2. Early correct diagnosis of fibrodysplasia ossificans progressiva is necessary to prevent additional iatrogenic harm or trauma. At the molecular level, dysregulated bone morphogenetic protein (BMP) signaling is associated with the formation of heterotopic ossification in fibrodysplasia ossificans progressiva. Patients with classical features of the disease have the same heterozygous missense mutation in the glycine-serine activation domain of activin A receptor type-I gene (ACVR1), a BMP type-I receptor3. The causative mutation of fibrodysplasia ossificans progressiva is a recurrent single-nucleotide substitution at position 617 (c.617G>A; R206H) in the ACVR1 gene, which is one of the most specific disease-causing mutations in the human genome. This mutant receptor constitutively activates BMP signaling without binding of ligands4. A unique and recurrent mutation has great relevance for diagnostic purposes in the case of fibrodysplasia ossificans progressiva. Definitive molecular diagnosis of fibrodysplasia ossificans progressiva is now available at early stages of disease development, when misdiagnosis is most likely to occur. Clinical awareness of the preosseous features of the disease is necessary for the early diagnosis of fibrodysplasia ossificans progressiva. In the present study, we describe the cases of two patients in whom fibrodysplasia ossificans progressiva …

Are great toes always abnormal in patients with fibrodysplasia ossificans progressiva?

Sir,We read with interest a recent paper by Kartal-Kaess andcolleagues [3] reporting a child who had episodic andprogressive heterotopic ossification along with congenitallymalformed great toes. On the basis of these findings, aclinical diagnosis of fibrodysplasia ossificans progressiva(FOP) was made and was confirmed by DNA sequenceanalysis which revealed the classical FOP mutation in theACVR1 gene (c.617G>A). The authors concluded that allclassically affected patients have congenital malformationsof the great toe, and this finding helps in establishing thediagnosis of FOP.Recently, a few studies [1, 2] analyzed phenotypicvariations in patients with FOP along with mutations inthe ACVR1 gene. In the largest study on FOP, so far,Kaplan [2] identified 20 patients with atypical phenotypes,of which five had normal great toes (clinically andradiologically). Also, in a study of Italian patients withFOP, Bocciardi [1] described a patient of FOP with normaltoes. All these patients were diagnosed with FOP butexperienced episodes of heterotopic soft tissue ossificationof milder severity and had mutations in the ACVR1 geneother than the classical c.617G>A. All the above patients[1, 2] were in their second or third decade of life. We had asimilar experience when a child was referred to us forstaging of a suspected sarcoma. In addition to sheets ofcalcification in the paraspinal region on imaging, we notedshort broad femoral necks bilaterally with an osteochon-droma in the right femur neck and short and broad firstmetatarsal. Both great toes however were clinically andradiologically normal. A diagnosis of FOP was thenrendered based on the clinicoradiologic features; a mutationanalysis was however not performed.The report by Kartal-Kaess et al. [ 3]shouldthusbeinterpreted with the important caveat that although almost allpatients with FOP have great toe abnormalities, the diagnosiscan by no means be ruled out in patients with normal greattoes. These patients, particularly those presenting after thefirst decade, can have a FOP variant with milder clinicalcourse. In such patients, the diagnosis can be based on theclinical history and other characteristic-associated skeletalabnormalities, as seen in our patient. In equivocal cases, theDNA sequence analysis can provide confirmation, thusavoiding a potential missed diagnosis of FOP.

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 precipitated by soft tissue injury, intramuscular injections, viral infection, muscular stretching, falls or fatigue. These flare-ups transform skeletal muscles, tendons, ligaments, fascia, and aponeuroses into heterotopic bone, rendering movement impossible. Patients with atypical forms of FOP have been described. They either present with the classic features of FOP plus one or more atypical features [FOP plus], or present with major variations in one or both of the two classic defining features of FOP [FOP variants]. Classic FOP is caused by a recurrent activating mutation (617G>A; R206H) in the gene ACVR1/ALK2 encoding Activin A receptor type I/Activin-like kinase 2, a bone morphogenetic protein (BMP) type I receptor. Atypical FOP patients also have heterozygous ACVR1 missense mutations in conserved amino acids. The diagnosis of FOP is made by clinical evaluation. Confirmatory genetic testing is available. Differential diagnosis includes progressive osseous heteroplasia, osteosarcoma, lymphedema, soft tissue sarcoma, desmoid tumors, aggressive juvenile fibromatosis, and non-hereditary (acquired) heterotopic ossification. Although most cases of FOP are sporadic (noninherited mutations), a small number of inherited FOP cases show germline transmission in an autosomal dominant pattern. At present, there is no definitive treatment, but a brief 4-day course of high-dose corticosteroids, started within the first 24 hours of a flare-up, may help reduce the intense inflammation and tissue edema seen in the early stages of the disease. Preventative management is based on prophylactic measures against falls, respiratory decline, and viral infections. The median lifespan is approximately 40 years of age. Most patients are wheelchair-bound by the end of the second decade of life and commonly die of complications of thoracic insufficiency syndrome.

Teaching Neuro Images : MRI in fibrodysplasia ossificans progressiva

A 3-year-old boy presented with abnormal neck posturing and rapidly growing lumps over the neck. The presence of typical malformed great toes and ectopic calcification (figure, A–C) and an affected family member confirmed the diagnosis of fibrodysplasia ossificans progressiva (FOP).1 MRI of …

Early Diagnosis of Fibrodysplasia Ossificans Progressiva

Fibrodysplasia ossificans progressiva is a rare and disabling genetic condition characterized by congenital malformation of the great toes and by progressive heterotopic ossification in specific anatomic patterns. Most patients with fibrodysplasia ossificans progressiva are misdiagnosed early in life before the appearance of heterotopic ossification and undergo diagnostic procedures that can cause lifelong disability. Recently, the genetic cause of fibrodysplasia ossificans progressiva was identified, and definitive genetic testing for fibrodysplasia ossificans progressiva is now available before the appearance of heterotopic ossification. We recently evaluated 7 children for diagnosis of fibrodysplasia ossificans progressiva before the onset of heterotopic ossification. A medical history, physical examination, and skeletal survey were obtained on all of the patients, as well as clinical genetic testing for the canonical fibrodysplasia ossificans progressiva mutation. All 7 of the children (4 girls and 3 boys; ages 3 months to 6 years) had congenital malformations of the great toes, but none had radiographic evidence of heterotopic ossification at the time of evaluation. Five of the 7 children had soft tissue lesions of the neck and back, suggestive of early fibrodysplasia ossificans progressiva flare-ups, 3 of whom had undergone invasive diagnostic procedures that exacerbated their condition. Two children had no history or signs of soft tissue swelling or flare-ups. DNA sequence analysis found that all 7 of the children had the recurrent fibrodysplasia ossificans progressiva missense mutation, a single nucleotide substitution (c.617G>A) at codon 206 in the glycine-serine activation domain of activin receptor IA, a bone morphogenetic protein type 1 receptor. Clinical suspicion of fibrodysplasia ossificans progressiva early in life on the basis of malformed great toes can lead to early clinical diagnosis, confirmatory diagnostic genetic testing, and the avoidance of additional harmful diagnostic and treatment procedures. This is the first report of genetic confirmation of fibrodysplasia ossificans progressiva before the appearance of heterotopic ossification. Pediatricians should be aware of the early diagnostic features of fibrodysplasia ossificans progressiva, even before the appearance of heterotopic ossification. This awareness should prompt early genetic consultation and testing and the institution of assiduous precautions to prevent iatrogenic harm.

The Radiographic Morphology of Foot Deformities in Patients with Fibrodysplasia Ossificans Progressiva

The most consistent deformities that allow early diagnosis of fibrodysplasia ossificans progressiva are the presence of bilateral short first rays and hallux valgus. The purpose of this study was to describe the radiographic features observed in the feet of patients with fibrodysplasia ossificans progressiva. The radiographs of 26 feet (15 patients with fibrodysplasia ossificans progressiva) were reviewed to evaluate the radiographic changes that occur in the first ray. Variables analyzed were the hallux valgus (HV) angle, the distal metatarsal articular (DMA) angle, the proximal phalangeal articular (PPA) angle, the intermetatarsal (IM) angle, ratio of the lengths of the first and second metatarsal lengths (MT1:MT2), and the first and second ray length ratio. The length ratios were then subtracted from similar ratios in radiographs of age- and gender-matched normal patients previously reported. The proximal phalanx was consistently shortened but morphologically dissimilar from subject to subject. Asymmetry was noted in some patients with bilateral radiographs. The mean HV angle was 28 degrees, and the mean IM angle was 10 degrees. The mean DMA angle was 33 degrees, and the mean PPA angle was 14 degrees. The MT1:MT2 ratio was 0.89, and the mean first ray to second ray length ratio was 0.87. The mean of the differences in the MT1:MT2 and first and second ray length ratios in patients with fibrodysplasia ossificans progressiva compared to the normal controls were 0.05 and 0.01, respectively. Fusion occurred between the abnormal tibial epiphysis of the proximal phalanx and metatarsal head with advancing age, and 68% of the metatarsal heads were fused with the abnormal proximal phalangeal epiphysis. Foot pathology in patients with fibrodysplasia ossificans progressiva is variable but consistently involves an abnormality of the tibial aspect of the proximal phalangeal epiphysis of the hallux. This results in the clinical observation of hallux valgus in these patients. The first metatarsal is consistently shortened, and fusion between the epiphysis of the abnormal proximal phalanx and the shortened first metatarsal head occurs with advancing age.

Clinical Presentation of Fibrodysplasia Ossificans Progressiva

A patient presented with a rapidly growing mass in the cervicothoracic paraspinous region. Associated clinical and radiographic skeletal abnormalities and histopathologic findings showing mild to moderate proliferation of spindle cells in a myxoid stroma led to the diagnosis of fibrodysplasia ossificans progressiva. Recognizing the clinical features of this disease is important and should avoid the need for obtaining tissue to make the diagnosis, because performing a biopsy may be particularly morbid in these patients.