Fibrodysplasia Ossificans Progressiva and Its Implications in Podiatric Medicine: A Case Report

2019 ◽  
Vol 109 (4) ◽  
pp. 317-321
Author(s):  
Nicholas Bolognini ◽  
Neil Navendu Trivedi ◽  
Andrew S. Au ◽  
Nishit Vora
Keyword(s):  
Case Report ◽  
Endochondral Ossification ◽  
Pediatric Patients ◽  
Soft Tissues ◽  
Clinical Presentation ◽  
Genetic Disorder ◽  
Surgical Excision ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Irreversible Damage ◽  
Dental Procedures

The purpose of this case report is to show the clinical presentation of a rare genetic disorder, called fibrodysplasia ossificans progressiva, on the development of the foot in a newborn. Shortened great toes and malformations of the first metatarsals are present in all affected individuals at birth. Irreversible heterotopic endochondral ossification of soft tissues occurs in the first decade of life, often resulting in permanent immobility by the third decade of life. Trauma caused by surgical excision of nodules, dental procedures, or injections can further exacerbate this condition. Early diagnosis is imperative for these patients to prevent irreversible damage that may result from unnecessary invasive interventions. This case report presents a boy aged 2 years 3 months who was born with bilateral bunion deformity. The goal is to raise awareness of this disorder in the podiatric community, especially for those who work with pediatric patients.

scholarly journals Mutant Activin-Like Kinase 2 in Fibrodysplasia Ossificans Progressiva are Activated via T203 by BMP Type II Receptors

2015 ◽  
Vol 29 (1) ◽  
pp. 140-152 ◽  
Author(s):  
Mai Fujimoto ◽  
Satoshi Ohte ◽  
Kenji Osawa ◽  
Arei Miyamoto ◽  
Sho Tsukamoto ◽  
...  
Keyword(s):  
Bone Morphogenetic Proteins ◽  
Intracellular Signaling ◽  
Molecular Mechanisms ◽  
Soft Tissues ◽  
Genetic Disorder ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Type I ◽  
Type Ii ◽  
Activin Receptor ◽  
Bmp Receptors

Abstract Fibrodysplasia ossificans progressiva (FOP) is a genetic disorder characterized by progressive heterotopic ossification in soft tissues, such as the skeletal muscles. FOP has been shown to be caused by gain-of-function mutations in activin receptor-like kinase (ALK)-2, which is a type I receptor for bone morphogenetic proteins (BMPs). In the present study, we examined the molecular mechanisms that underlie the activation of intracellular signaling by mutant ALK2. Mutant ALK2 from FOP patients enhanced the activation of intracellular signaling by type II BMP receptors, such as BMPR-II and activin receptor, type II B, whereas that from heart disease patients did not. This enhancement was dependent on the kinase activity of the type II receptors. Substitution mutations at all nine serine and threonine residues in the ALK2 glycine- and serine-rich domain simultaneously inhibited this enhancement by the type II receptors. Of the nine serine and threonine residues in ALK2, T203 was found to be critical for the enhancement by type II receptors. The T203 residue was conserved in all of the BMP type I receptors, and these residues were essential for intracellular signal transduction in response to ligand stimulation. The phosphorylation levels of the mutant ALK2 related to FOP were higher than those of wild-type ALK2 and were further increased by the presence of type II receptors. The phosphorylation levels of ALK2 were greatly reduced in mutants carrying a mutation at T203, even in the presence of type II receptors. These findings suggest that the mutant ALK2 related to FOP is enhanced by BMP type II receptors via the T203-regulated phosphorylation of ALK2.

Neurosurgical management of symptomatic thoracic spinal ossification in a patient with fibrodysplasia ossificans progressiva

2012 ◽  
Vol 16 (3) ◽  
pp. 285-288 ◽  
Author(s):  
Bartosz T. Grobelny ◽  
David Rubin ◽  
Peter Fleischut ◽  
Elayna Rubens ◽  
Patricia Fogarty Mack ◽  
...  
Keyword(s):  
Soft Tissues ◽  
Genetic Disorder ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Anesthetic Technique ◽  
Minor Trauma ◽  
Thoracic Insufficiency Syndrome ◽  
Canal Stenosis ◽  
Thoracic Spinal ◽  
Muscle Tissues ◽  
Insufficiency Syndrome

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 with FOP, including steroid administration to prevent ossification and anesthetic technique. The nuances of neurosurgical and medical management as they pertain to this disease are discussed.

scholarly journals Mucocele of the glands of blandin nuhn: a case report

2013 ◽  
pp. 46-47 ◽  
Author(s):  
Nathalia García-León ◽  
Gilberto E Marrugo
Keyword(s):  
Case Report ◽  
Oral Cavity ◽  
Clinical Presentation ◽  
Surgical Excision ◽  
Diagnosis And Treatment ◽  
Vascular Lesions ◽  
Benign Lesions ◽  
Recurrent Lesion ◽  
Timely Diagnosis

Mucoceles arising from the Blandin Nuhn glands are uncommon benign lesions of the oral cavity, which by their clinical presentation may be confused with more serious diseases such as vascular lesions, pyogenic granulomas, polyps, or squamous papillomas; thereby, it is convenient to be aware of the characteristics of this entity to guide the accurate and timely diagnosis and treatment. Herein, we present a case of a 10-year-old patient with a recurrent lesion of this type, which required surgical excision and marsupialization of the same, with no evidence of recurrence during follow-up.

scholarly journals Complete Ossification of the Stylohyoid Chain as Cause of Eagle's Syndrome: A Very Rare Case Report

2014 ◽  
Vol 15 (4) ◽  
pp. 500-505 ◽  
Author(s):  
Antônio Sérgio Guimarães ◽  
Daniel Humberto Pozza ◽  
Idercy Cabral de Castro ◽  
Iván Claudio Suazo Galdames ◽  
Sandro Palla
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Soft Tissues ◽  
Surgical Excision ◽  
Styloid Process ◽  
Eagle’S Syndrome ◽  
Elongated Styloid Process ◽  
Rare Case Report ◽  
The Right ◽  
Stylohyoid Chain

ABSTRACT Aim To report on a patient with Eagle's syndrome with a complete and very large ossification of the stylohyoid complex on the right side that to our best knowledge has never been published previously. Background Eagle's syndrome is characterized by a set of symptoms that are caused by the irritation of the neurovascular and soft-tissues caused by an elongated styloid process or ossification of stylohyoid ligament. Case description Because of the high discomfort and pain degree as well as limitations of mandibular and head mobility and also the thickness of the ossified stylohyoid chain, the patient was treated surgically by removing the hypertrophic segment. Conclusion These symptoms subsided completely after the surgical excision of the anomaly. The elongated styloid process on the left side was symptom free. Clinical significance Eagle's syndrome symptoms are not specific and can mimic those of other disorders, the syndrome must be included in the differential diagnosis of patients with pain in the orofacial, pharyngeal and cervical area. How to cite this article Guimarães AS, Pozza DH, de Castro IC, Galdames ICS, Palla S. Complete Ossification of the Stylohyoid Chain as Cause of Eagle's Syndrome: A Very Rare Case Report. J Contemp Dent Pract 2014;15(4):500-505.

scholarly journals The Effect of Pre-cooling the Injection Site on Pediatric Pain Perception during the Administration of Local Anesthesia

2009 ◽  
Vol 10 (3) ◽  
pp. 43-50 ◽  
Author(s):  
Naser Asl Aminabadi ◽  
Ramin Mostofi Zadeh Farahani
Keyword(s):  
Injection Site ◽  
Local Anesthesia ◽  
Local Anesthetic ◽  
Pain Perception ◽  
Pediatric Patients ◽  
Soft Tissues ◽  
Inferior Alveolar Nerve ◽  
Topical Anesthesia ◽  
Pediatric Pain ◽  
Dental Procedures

Abstract Aim The aim of the study was to evaluate the effect of cooling the soft tissue of injection sites on the pain perceptions of pediatric patients during the administration of local anesthesia for routine dental procedures. Methods and Materials A total of 160 children aged 5-6 years were included in the present study. On a random basis, the subjects were allocated to the without ice pretreatment (WIP) group (topical anesthesia + counterstimulation + distraction) or the ice pretreatment (IP) group (cooling + topical anesthesia + counterstimulation + distraction). During the administration of an inferior alveolar nerve block, the children's behavior was assessed using the sound, eye, and motor (SEM) scale. The statistical analysis of data was performed based on the analysis of variance (ANOVA). Results There were no significant differences within the groups between the values of the sound, eye, and motor components for either the WIP or the IP groups (P>0.05). All three components of the SEM in the IP group were consistently lower than the WIP group (P<0.05). Moreover, the SEM value for the WIP group surpassed the IP group (P<0.05). Conclusions Cooling the site of infiltration block prior to the injection of local anesthesia significantly reduced the pain perceived during injection of local anesthetic agent in pediatric patients. Clinical Significance Pre-cooling of the soft tissues of an injection site prior to the administration of a local anesthetic can minimize the discomfort and anxiety associated with the injection procedure and facilitates the management of pediatric patients during this phase of a dental procedure. Citation Aminabadi NA, Farahani RMZ. The Effect of Pre-cooling the Injection Site on Pediatric Pain Perception during the Administration of Local Anesthesia. J Contemp Dent Pract 2009 May; (10)3:043-050.

scholarly journals Fibrodysplasia Ossificans Progressiva: A Case Report

2018 ◽  
Vol 16 (2) ◽  
pp. 245-247
Author(s):  
Sudeep Acharya ◽  
Sandhya Joshi ◽  
Rajib Chaulagain
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Effective Treatment ◽  
Skeletal Muscles ◽  
Genetic Disorder ◽  
Later Life ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Permanent Disability ◽  
Radiological Features ◽  
The Individual

Fibrodysplasia ossificans progressiva is a genetic disorder of the connective tissue differentiation characterized by congenital malformation of the big toes and progressive heterotopic ossification in the extra skeletal tissues like tendons, ligaments, fascia and skeletal muscles leading to permanent disability. The prevalence is one in two million people. During childhood, it may be asymptomatic but in later life, progressive stiffness of major joints renders movement of the individual impossible. Currently, there is no effective treatment for this debilitating disease. Here, we present a case of 27 year old male with clinical and radiological features of fibrodysplasia ossificans progressiva.

scholarly journals Do you know this syndrome?

2013 ◽  
Vol 88 (3) ◽  
pp. 473-475 ◽  
Author(s):  
Laura Maria Andrade Silveira ◽  
Andreia Nogueira Ramos ◽  
Isadora Rosado do Amaral ◽  
Vitoria Regina Pedreira de Almeida Rego
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Autosomal Dominant ◽  
Congenital Abnormalities ◽  
Clinical Presentation ◽  
Current Knowledge ◽  
Genetic Disorder ◽  
Mucous Membranes ◽  
Form Part

Congenital Hypertrichosis Lanugionsa is a rare autosomal dominant genetic disorder, with fewer than 50 cases reported in the literature. It is characterized by excessive lanugo hair, sparing only the mucous membranes, palms and soles. It may be associated with other organic abnormalities and should form part of the dermatologist's current knowledge. We discuss some aspects of the syndrome in question arising from the case report of a 2-year-old female patient, black, with classic clinical presentation, with no other associated congenital abnormalities.

scholarly journals Clinical Presentation and Management Approach in a Case of Familial Hypocalciuric Hypercalcemia Type 3 Due to APS21 Gene Mutation

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A188-A188
Author(s):  
Sahar A Elsheikh ◽  
Henry M Blunk ◽  
Scott Wilhelm
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Primary Hyperparathyroidism ◽  
Calcium Homeostasis ◽  
Clinical Presentation ◽  
Genetic Disorder ◽  
Management Approach ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Surgical Options ◽  
Type 3

Abstract Familial hypocalciuric hypercalcemia (FHH) is a genetic disorder caused by dysfunctional calcium homeostasis. Thus far, three types of FHH are known to be caused by mutations inCASR (FHH1), GNA11 (FHH2), and AP2S1 (FHH3). The patient in this case report is a 36-year old male that initially presented for a second opinion after being diagnosed with Primary Hyperparathyroidism(PHPT) with subsequent parathyroidectomy done at another institute, and developed recurrent symptomatic hypercalcemia. Prior to considering this patient for further surgical options, he underwent genetic testing, which revealed he had c.43C&gt;T (p.Arg15Cys) mutation in the AP2S1 gene diagnostic of Familial Hypocalciuric Hypercalcemia Type 3 (FHH3). The patient’s father and sister also have hypercalcemia, and have been offered genetic testing. There have been cases reported of patients with FHH3 that have symptomatic hypercalcemia and that have associated cognitive issues. Many patients with FHH can be misdiagnosed and may undergo unnecessary parathyroidectomy. This case report further elucidates the need to raise awareness of FHH.

scholarly journals Surgical Excision Of Intraoral Lipoma; Case Report

2016 ◽  
Vol 12 (12) ◽  
pp. 211
Author(s):  
Ahmed Ismail Nagy
Keyword(s):  
Case Report ◽  
Granular Cell Tumor ◽  
Clinical Presentation ◽  
Granular Cell ◽  
Surgical Excision ◽  
Cell Tumor ◽  
Lower Lip ◽  
Floor Of The Mouth ◽  
The Common ◽  
Oral Tumors

Lipoma is a common tumor of soft tissue. Its location on the oral mucosa is rare, representing 1% to 5% of benign oral tumors although it is the most mesenchymal tumor of the trunk and proximal portions of extremities. Lipoma of the oral cavity may occur in any region. The buccal mucosa, tongue, and floor of the mouth are among the common locations. The clinical presentation is typically as an asymptomatic yellowish mass. The overlying epithelium is intact, and superficial blood vessels are usually evident over the tumor. Other benign connective tissue lesions such as granular cell tumor, neurofibroma, traumatic fibroma and salivary gland lesions (mucocele and mixed tumor) might be included in differential diagnosis. We present a case report of oral lipoma in the left side of the lower lip in 18 years old Saudi patient.

scholarly journals Spinal intramedullary cysticercosis: a case report and literature review

2013 ◽  
Vol 32 (04) ◽  
pp. 245-249 ◽  
Author(s):  
Audrey Beatriz Santos Araujo ◽  
Marina Brugnoli Ribeiro Cambraia ◽  
Ricardo Azevedo Moraes Motta Filho ◽  
Gláucia Lara Rezende ◽  
Alander Sobreira Vanderlei
Keyword(s):  
Spinal Cord ◽  
Case Report ◽  
Cystic Lesion ◽  
Surgical Excision ◽  
Lower Limbs ◽  
Motor Power ◽  
Irreversible Damage ◽  
Special Support ◽  
Active Portion ◽  
Back To Work

AbstractNeurocysticercosis is an endemic infeccion in Brazil, but the intramedullary cases are rare, 1,2% to 5,8% of all cases. There are only fifty cases reported until January of 2011. Intramedullary neurocysticerosis is a treatable pathology but if misdiagnosed it could lead to irreversible damage. Twenty eight year old female patient, previously healthy, was admitted due to a fall. She had progressive walking difficulties and impaired sensation in both lower limbs two months before admission. Contrast MRI revealed a round intramedullary cystic lesion at T2 e T3. The patient underwent laminectomy from T2 to T3, and the spinal cord was found locally swollen near the exit root at this level. A mielotomy was performed where a round protrusion was seen near the root. Histological examination of the resected sample showed cysticercosis. After surgical excision she received albendazol and streoids. The patient's neurological function postoperatively was unchanged. One week later, the motor power of her lower limbs were grade 4/5, and she could walk without special support. The function of anal sphincter and bladder regained without compromise. She was back to work. This reflects dramatically in an active portion of population since it affects mostly people between 20 to 45 years. So it still represents a challenge and this paper intend to show our experience and by that help future diagnostics.

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