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1.
BMJ Case Rep ; 15(10)2022 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-36270739

RESUMO

This case report discusses a rare case of secondary tenosynovial chondromatosis of the flexor hallucis longus (FHL). Synovial chrondomatosis is a rare, benign proliferative cartilaginous lesion arising from the synovial tissue or bursal lining of or near joints. When it is extra-articular, it is considered tenosynovial chondromatosis. The diagnosis is often delayed given the rarity of presentation and non-specific symptoms. The case was highly unusual in that hindfoot pain was caused by several centimetre-sized osteochondral bodies within the FHL tendon sheath. Anterior cheilectomy was performed. The patient returned to full activity following surgery without recurrence of the disease. The condition can be successfully treated operatively.


Assuntos
Condromatose Sinovial , Condromatose , Humanos , Condromatose Sinovial/diagnóstico por imagem , Condromatose Sinovial/cirurgia , Condromatose/patologia , Imageamento por Ressonância Magnética , Tendões/cirurgia , Tendões/patologia , Músculo Esquelético/patologia
2.
Sci Prog ; 105(3): 368504221115232, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35850569

RESUMO

OBJECTIVE: To investigate the diagnosis and treatment procedure of synovial chondromatosis (SC) of the temporomandibular joint (TMJ). METHODS: Clinical features, imaging features, surgical methods, and prognosis of 7 patients with SC of the TMJ were analyzed. We also reviewed and analyzed surgery-relevant literature included in the Pubmed database in the past decade using the search terms "synovial chondromatosis" and "temporomandibular joint", and found 181 cases. RESULTS: There was no specific difference in the symptoms of SC in the TMJ in different Milgram's stages in our cases and the cases mentioned in the literature. The main symptoms of SC in the TMJ were pain (100%, 7/7; 64.64%, 117/181), limited mouth opening (57.14%, 4/7; 53.59%, 97/181), swelling (14.29%, 1/7; 28.18%, 51/181), crepitus (28.57%, 2/7; 19.34%, 35/181), and clicking (14.29%, 1/7; 9.94%, 18/181) in our cases and cases from literature separately. The imaging features of SC were occupying lesions (including loose bodies or masses) (71.42%, 5/7; 37.57%, 68/181), bone change in condyle or glenoid fossa (1/7, 14.29%; 34.81%, 63/181), effusion (42.86%, 3/7; 20.99%, 38/181), joint space changes (42.86%, 3/7; 11.05%, 20/181) in our cases and cases from literature separately. The surgical procedures seem to depend mainly on the involved structures and the extension of the lesion rather than the Milgram's stage. CONCLUSIONS: The clinical features of SC in the TMJ are nonspecific and easy to be misdiagnosed. MRI is helpful in the diagnosis of SC in the TMJ. The surgical procedures mainly depend on the involved structures and the extension of the lesion.


Assuntos
Condromatose Sinovial , Condromatose , Corpos Livres Articulares , Transtornos da Articulação Temporomandibular , Condromatose/patologia , Condromatose Sinovial/diagnóstico por imagem , Condromatose Sinovial/cirurgia , Humanos , Corpos Livres Articulares/patologia , Corpos Livres Articulares/cirurgia , Articulação Temporomandibular/diagnóstico por imagem , Articulação Temporomandibular/patologia , Articulação Temporomandibular/cirurgia , Transtornos da Articulação Temporomandibular/diagnóstico por imagem , Transtornos da Articulação Temporomandibular/cirurgia
3.
Hand (N Y) ; 17(6): NP1-NP5, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35272520

RESUMO

Primary synovial chondromatosis is a rare, benign proliferative disease of the joint synovium, tenosynovium, or bursal lining, in which cartilage metaplasia leads to the development of multiple intra-articular and periarticular loose osteocartilaginous bodies. This disease usually involves larger joints (knee, hip, elbow, and shoulder), but it has also rarely been reported in the hand. Patients with this disease complain of pain, swelling, nodules, and decreased range of motion of the affected joint. Due to its nonspecific symptoms and low prevalence, this disease often goes misdiagnosed, leading to delays in patient treatment. In the literature to date, there are only a few reports of primary synovial chondromatosis. In this case report, we present a patient with a rare case of primary synovial chondromatosis localized to right small finger distal interphalangeal joint.


Assuntos
Condromatose Sinovial , Condromatose , Corpos Livres Articulares , Humanos , Condromatose Sinovial/diagnóstico por imagem , Condromatose Sinovial/cirurgia , Corpos Livres Articulares/diagnóstico por imagem , Corpos Livres Articulares/cirurgia , Cotovelo , Dedos
5.
Am J Med Genet A ; 188(5): 1482-1487, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35112464

RESUMO

Genetic mosaicism caused by postzygotic mutations is of a great interest due to its role in human disease. Monozygotic twins arising from a single zygote are considered as genetically identical, and any differences likely to be caused by postzygotic events. Thus, phenotypically discordant monozygotic twins offer a unique opportunity to study genotype-phenotype correlation. Here, we present a three-generation family starting from a pair of monozygotic twins discordant for metachondromatosis due to postzygotic p.(Gln175His) variant in the PTPN11 gene. Both phenotypically discordant monozygotic twins harbor p.(Gln175His), however significant differences in mosaic ratio is observed not only between twins, but also within different tissue types within one individual. Phenotypic manifestation of p.(Gln175His) in examined family clearly depends on allele variant fraction (VAF). Individuals harboring constitutional mutation (VAF 50%) present typical metachondromatosis. Milder phenotype is observed in twin harboring high-level mosaicism in the tissue of ectodermal origin (VAF 45%), but not in a blood (VAF 5%). Finally, her twin sister harboring low-level mosaicism in blood (VAF 2%) and nonblood (VAF 12%) tissues is phenotypically normal. Our results provide insights into biological role of mosaicism in disease and further support the usefulness of nonblood tissues as an optimal source of DNA for the identification of postzygotic mutations in phenotypically discordant monozygotic twins.


Assuntos
Mosaicismo , Gêmeos Monozigóticos , Neoplasias Ósseas , Condromatose , Doenças em Gêmeos/diagnóstico , Doenças em Gêmeos/genética , Exostose Múltipla Hereditária , Feminino , Humanos , Mutação , Fenótipo , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Gêmeos Monozigóticos/genética
7.
J Craniofac Surg ; 33(3): e276-e279, 2022 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-34519708

RESUMO

PURPOSE: To report a rather rare entity of facial palsy due to chondromyxoid fibroma. The authors present a case along with clinico-pathological features, management, treatment options and follow-up. METHODS: The authors present a case of a 29-year-old male who suffered from right facial weakness and numbness for a period of 6-months. imaging studies demonstrated a soft, locally invasive tumor, located mainly in the right temporal bone and extended extracranially. RESULTS: A surgical procedure of local excision followed by cross-facial nerve grafting was performed. CONCLUSIONS: Diagnosis should be based on combination of histo-pathologic and radiographic findings, because of its histological similarities to chondrosarcoma.


Assuntos
Neoplasias Ósseas , Condromatose , Paralisia Facial , Fibroma , Adulto , Neoplasias Ósseas/cirurgia , Nervo Facial/patologia , Paralisia Facial/etiologia , Paralisia Facial/cirurgia , Fibroma/cirurgia , Humanos , Masculino , Osso Temporal/diagnóstico por imagem , Osso Temporal/patologia , Osso Temporal/cirurgia
8.
Cranio ; 39(4): 362-366, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31156068

RESUMO

Background: Synovial chondromatosis is usually detected at a late stage based on free bodies in joint space. The purpose of this study was to identify biomarkers for cell proliferation and chondrogenesis in the primary stage of synovial chondromatosis in the temporomandibular joint (TMJ).Clinical Presentation: A 67-year-old female was referred for right side TMJ pain. Magnetic resonance imaging (MRI) findings suggested an intra-joint space lesion, but no free bodies were observed intraoperatively. Pathological examination led to diagnosis of Milgram stage 1 synovial chondromatosis. Biomarkers related to mesenchymal stem cells (MSCs), cell proliferation, and chondrogenesis were observed in immunohistopathological examination of specimens.Clinical Relevance: The findings suggest that MSCs with chondrogenic potential and growth activity are present at the start of cartilage formation in the synovial membrane. These cells may be the origin of disease. Those findings improve understanding of the etiology and disease progression of synovial chondromatosis in the TMJ.


Assuntos
Condromatose Sinovial , Condromatose , Transtornos da Articulação Temporomandibular , Idoso , Biomarcadores , Condromatose Sinovial/diagnóstico por imagem , Feminino , Humanos , Articulação Temporomandibular , Transtornos da Articulação Temporomandibular/diagnóstico por imagem
9.
Skeletal Radiol ; 50(3): 597-602, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32803376

RESUMO

Initially described, in 1948, as a tumor that could be mistaken with chondrosarcoma at histopathology, chondromyxoid fibroma is now a well-recognized entity. Surface-type chondromyxoid fibroma, however, remains an extremely rare occurrence. We present a case of a 55-year-old woman, who experienced right arm pain for 5 years. After unsuccessful treatment for presumed thoracic outlet syndrome, MRI revealed a large mass abutting the anteromedial cortex of the distal humeral diaphysis in a subperiosteal location. Further characterization was made with radiography, CT, and bone scan, which were followed by ultrasound-guided biopsy. Although histopathologic features were suggestive of chondromyxoid fibroma, the diagnosis remained somewhat uncertain initially due to the very unusual location involving the diaphysis of the humerus. Surgical resection was performed, and subsequent histopathologic analysis confirmed the diagnosis of chondromyxoid fibroma. Despite being a rare entity, surface-type chondromyxoid fibroma would need to be considered in the differential when dealing with expansile surface diaphyseal lesions.


Assuntos
Neoplasias Ósseas , Condromatose , Fibroma , Neoplasias Ósseas/diagnóstico por imagem , Neoplasias Ósseas/cirurgia , Diáfises , Feminino , Fibroma/diagnóstico por imagem , Fibroma/cirurgia , Humanos , Úmero/diagnóstico por imagem , Úmero/cirurgia , Pessoa de Meia-Idade
10.
J Radiol Case Rep ; 15(8): 8-17, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35586796

RESUMO

Tenosynovial chondromatosis is a rare benign disorder characterized by formation of cartilaginous bodies within the synovia of the tendon sheaths. Most commonly present in the hands and feet. Clinical presentation and plain radiography can be inconclusive, which can lead to misclassification, most often confused as a chondroma of soft parts. In this case, we report the clinical, radiologic, and histology of a 59-year-old man who presented with a 1-year history of mass on the right fifth digit with limitation of motion secondary to this condition. Surgical excision revealed multiple cartilaginous nodules of varying size arising from the flexor tendon sheath. The diagnosis was confirmed postoperatively by surgical histopathology. The postoperative course of the patient was uncomplicated and has achieved an excellent functional recovery.


Assuntos
Condromatose Sinovial , Condromatose , Condromatose/complicações , Condromatose/patologia , Condromatose Sinovial/diagnóstico por imagem , Condromatose Sinovial/patologia , Condromatose Sinovial/cirurgia , Dedos/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Radiografia , Tendões/diagnóstico por imagem , Tendões/patologia , Tendões/cirurgia
11.
Pediatr Hematol Oncol ; 37(5): 431-437, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32166993

RESUMO

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare metabolic disorder characterized by developmental delay, hypotonia, and bi-allelic mutations in D-2-hydroxyglutarate dehydrogenase (D2HGDH) or a single gain-of-function mutation in isocitrate dehydrogenase 2 (IDH2). Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA) is a type of D-2-HGA that has been previously reported in ten patients (OMIM 614875), three of whom had somatic mosaicism for R132 variants in isocitrate dehydrogenase 1 (IDH1). We describe a 3-year-old boy with MC-HGA who subsequently developed acute myeloid leukemia (AML) and was found to have an IDH1 R132C mutation in a leukemic bone marrow sample. Further testing revealed presence of somatic mosaicism for IDH1 R132C variant, suggesting an association of IDH1 in inducing myeloid leukemogenesis.


Assuntos
Encefalopatias Metabólicas Congênitas/genética , Condromatose/genética , Isocitrato Desidrogenase/genética , Leucemia Mieloide Aguda/genética , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Encefalopatias Metabólicas Congênitas/complicações , Pré-Escolar , Condromatose/complicações , Condromatose/tratamento farmacológico , Transplante de Células-Tronco Hematopoéticas , Humanos , Leucemia Mieloide Aguda/complicações , Leucemia Mieloide Aguda/tratamento farmacológico , Masculino , Mutação , Resultado do Tratamento
12.
In Vivo ; 33(6): 2235-2240, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31662562

RESUMO

BACKGROUND/AIM: Although some patients with enchondroma have multiple lesions, no study has investigated the distribution of lesions in patients with multiple enchondromas. PATIENTS AND METHODS: This retrospective study included 118 patients with enchondroma of the hand. The incidence and characteristic feature of multiple enchondromas of the hand were investigated. RESULTS: Four patients (3.4%) had multiple enchondromas. In all the patients with multiple enchondromas, the lesions occurred in the middle phalanx, proximal phalanx, and metacarpal bone in the same digital ray. CONCLUSION: The development of the hand rapidly progresses from intrauterine day 33 to day 54. The digital rays are evident on intrauterine day 41, and separation of the distal phalanx, middle phalanx, proximal phalanx, and metacarpal bone is completed until intrauterine day 54. The successive occurrence of multiple enchondroma lesions in the same digital ray in all four cases suggests that the occurrence of lesions preceded the separation of the hand bones and the lesions were divided during the development of these bones.


Assuntos
Condromatose/diagnóstico , Mãos/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Intensificação de Imagem Radiográfica , Estudos Retrospectivos , Carga Tumoral , Adulto Jovem
13.
Saudi J Kidney Dis Transpl ; 30(4): 969-973, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31464257

RESUMO

Metachondromatosis is a rare disorder of autosomal inheritance with incomplete penetrance, which is characterized by formation of osteochondroma and enchondroma, caused by loss of function of the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene. Diagnosis is made based on the distribution and orientation of lesions with history of regression of lesions with time and confirmed by genetic mutation of PTPN11 gene. We report a rare case of a 24-year-old male with Alport's syndrome with metachondromatosis due to missense variation in PTPN11 gene.


Assuntos
Neoplasias Ósseas/genética , Condromatose/genética , Colágeno Tipo IV/genética , Exostose Múltipla Hereditária/genética , Mutação , Nefrite Hereditária/genética , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Sítios de Splice de RNA , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/enzimologia , Condromatose/diagnóstico , Condromatose/enzimologia , Análise Mutacional de DNA , Exostose Múltipla Hereditária/diagnóstico , Exostose Múltipla Hereditária/enzimologia , Predisposição Genética para Doença , Hemizigoto , Heterozigoto , Humanos , Masculino , Mutação de Sentido Incorreto , Nefrite Hereditária/diagnóstico , Fenótipo , Fatores de Risco , Adulto Jovem
14.
Hautarzt ; 70(7): 497-505, 2019 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-31087125

RESUMO

Approximately 9000 different phenotypes are known in medicine. The definition phenotype includes both manifest diseases as well as features without any disease value and the pure genetic disposition to develop a disease (e.g. tumors or complex diseases); however, most phenotypes are rare monogenic hereditary diseases. Approximately 6400 of these phenotypes have so far been elucidated by molecular genetics and are caused by mutations in 4064 different genes. Of all genetic diseases, an estimated one third are associated with skin symptoms. Genodermatoses are the phenotypes predominantly related to the skin, of which approximately 600 are familiar to dermatologists. The syndromes with scaling and keratosis include cornification disorders where the symptoms are not limited to the skin. They are associated with skin symptoms such as ichthyosis, erythroderma and palmoplantar keratoderma but show additional symptoms from other organ groups. The typical combination of symptoms may be unique to a syndrome and therefore seminal for the diagnosis.


Assuntos
Neoplasias Ósseas , Condromatose , Ictiose , Ceratodermia Palmar e Plantar , Ceratose , Mutação/genética , Síndromes Neoplásicas Hereditárias , Neoplasias Ósseas/genética , Neoplasias Ósseas/patologia , Condromatose/genética , Condromatose/patologia , Humanos , Ictiose/genética , Ictiose/patologia , Ceratodermia Palmar e Plantar/genética , Ceratodermia Palmar e Plantar/patologia , Ceratose/genética , Ceratose/patologia , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/patologia , Pele , Síndrome
15.
Rev. bras. ortop ; 53(5): 647-650, Sept.-Oct. 2018. graf
Artigo em Inglês | LILACS | ID: biblio-977899

RESUMO

ABSTRACT Synovial chondromatosis is a benign arthropathy rarely seen in diarthrodial joints. Extra-articular bilateral symmetrical synovial chondromatosis of shoulder is the rarest variety. The diagnosis is established with the help of imaging modalities and histopathological examinations. This report describes a case of a 39-year-old woman who presented with symmetrical, progressively increasing swelling over the bilateral shoulder region, of 12-18 months duration, with dull ache and restricted movements of the shoulder joints. Magnetic resonance imaging (MRI) and ultrasonography (USG) revealed large bilateral subacromial-subdeltoid bursal swelling with loose floating bodies. Surgical excision of extensive bilateral bursa was performed at four weeks of interval. Histopathological examination revealed synovial chondromatosis on either side. Postoperative recovery occurred without complications.


RESUMO A condromatose sinovial é uma artropatia benigna raramente vista em articulações diartrodiais. A condromatose sinovial simétrica bilateral extra-articular do ombro é a variedade mais rara. O diagnóstico é estabelecido com a ajuda de exames de imagem e histopatológicos. Este relato descreve o caso de uma paciente de 39 anos, com aumento de volume progressivo simétrico sobre a região bilateral do ombro com 12-18 meses de duração com dor entorpecido e limitação dos movimentos das articulações do ombro. A ressonância magnética e a ultrassonografia revelaram um grande aumento de volume da bursa subacromial subdeltoidea bilateral com corpos livres flutuantes. A excisão cirúrgica extensa da bursa bilateral foi feita com quatro semanas de intervalo. O exame histopatológico revelou condromatose sinovial em ambos os lados. A recuperação pós-operatória transcorreu sem complicações.


Assuntos
Humanos , Feminino , Adulto , Ombro , Condromatose Sinovial/cirurgia , Condromatose Sinovial/diagnóstico por imagem , Condromatose
16.
Medicine (Baltimore) ; 97(17): e0512, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29703018

RESUMO

RATIONALE: Metachondromatosis (MC) is a very rare genetic disease, which is infrequently reported worldwide, which leads to osteochondroma and enchondromatosis. The disease has been shown to be associated with loss of function of the tumor suppressor gene "protein tyrosine phosphatase, non-receptor type 11" (PTPN11). PATIENT CONCERNS: A 12-year-old female was admitted to the hospital with pain due to an enlarged mass in her left fifth finger. DIAGNOSIS: Examination of the left hand by computed tomography (CT) revealed an expanding type of round and low-density lesion in the fifth proximal phalanx. The patient then underwent technetium-99m methylene diphosphonate single-photon emission CT/CT (Tc-MDP SPECT/CT) to assess the nature of the lesion. The SPECT/CT image revealed dilated osteopathy and increased activity of the fifth proximal phalanx on the left hand. Unexpectedly, the examination of the right hand revealed slight expanded lesions and increased activities of the third metacarpal and proximal phalange, as well as the fourth proximal phalange and the middle phalanx. On the basis of the patient's symptoms and the results of the above-mentioned examinations, we diagnosed the patient as having MC in her hands. INTERVENTION: Considering the pain of the fifth finger of the left hand, the patient underwent debridement of the fifth proximal phalanx of the left hand and internal fixation with bone graft taken from the body. OUTCOMES: The patient was discharged after a week of observation. One year later, she was admitted to the hospital again for removal of the bone healing internal fixation after osteoma surgery. Preoperative Tc-MDP SPECT/CT revealed that the left-handed lesions displayed postoperative changes, while the multiple lesions in the right hand increased in volume but remained unchanged in number. LESSONS: This case revealed the CT and Tc-MDP SPECT/CT imaging features of MC. Specifically, SPECT/CT imaging contributed to the diagnosis of clinically asymptomatic bone lesions, and the 3D SPECT/CT fusion allowed a more comprehensive and intuitive view of the lesion by combining anatomy and function.


Assuntos
Neoplasias Ósseas/diagnóstico por imagem , Condromatose/diagnóstico por imagem , Exostose Múltipla Hereditária/diagnóstico por imagem , Falanges dos Dedos da Mão/diagnóstico por imagem , Tomografia Computadorizada com Tomografia Computadorizada de Emissão de Fóton Único/métodos , Neoplasias Ósseas/cirurgia , Criança , Condromatose/cirurgia , Exostose Múltipla Hereditária/cirurgia , Feminino , Falanges dos Dedos da Mão/cirurgia , Humanos , Medronato de Tecnécio Tc 99m
18.
Sci Rep ; 7(1): 12699, 2017 10 05.
Artigo em Inglês | MEDLINE | ID: mdl-28983104

RESUMO

Transdifferentiation of hypertrophic chondrocytes into bone-forming osteoblasts has been reported, yet the underlying molecular mechanism remains incompletely understood. SHP2 is an ubiquitously expressed cytoplasmic protein tyrosine phosphatase. SHP2 loss-of-function mutations in chondroid cells are linked to metachondromatosis in humans and mice, suggesting a crucial role for SHP2 in the skeleton. However, the specific role of SHP2 in skeletal cells has not been elucidated. To approach this question, we ablated SHP2 in collagen 2α1(Col2α1)-Cre- and collagen 10α1(Col10α1)-Cre-expressing cells, predominantly proliferating and hypertrophic chondrocytes, using "Cre-loxP"-mediated gene excision. Mice lacking SHP2 in Col2α1-Cre-expressing cells die at mid-gestation. Postnatal SHP2 ablation in the same cell population caused dwarfism, chondrodysplasia and exostoses. In contrast, mice in which SHP2 was ablated in the Col10α1-Cre-expressing cells appeared normal but were osteopenic. Further mechanistic studies revealed that SHP2 exerted its influence partly by regulating the abundance of SOX9 in chondrocytes. Elevated and sustained SOX9 in SHP2-deficient hypertrophic chondrocytes impaired their differentiation to osteoblasts and impaired endochondral ossification. Our study uncovered an important role of SHP2 in bone development and cartilage homeostasis by influencing the osteogenic differentiation of hypertrophic chondrocytes and provided insight into the pathogenesis and potential treatment of skeletal diseases, such as osteopenia and osteoporosis.


Assuntos
Neoplasias Ósseas/genética , Condromatose/genética , Exostose Múltipla Hereditária/genética , Osteogênese/genética , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Fatores de Transcrição SOX9/genética , Animais , Desenvolvimento Ósseo/genética , Neoplasias Ósseas/fisiopatologia , Cartilagem/crescimento & desenvolvimento , Cartilagem/metabolismo , Cartilagem/patologia , Diferenciação Celular/genética , Proliferação de Células/genética , Transdiferenciação Celular/genética , Condrócitos/metabolismo , Condrócitos/patologia , Condrogênese/genética , Condromatose/fisiopatologia , Exostose Múltipla Hereditária/fisiopatologia , Lâmina de Crescimento/crescimento & desenvolvimento , Lâmina de Crescimento/metabolismo , Lâmina de Crescimento/patologia , Humanos , Hipertrofia/genética , Hipertrofia/patologia , Camundongos , Osteoblastos/metabolismo
19.
Acta Med Iran ; 55(12): 793-799, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29373887

RESUMO

Metachondromatosis which was first described in 1971 by Maroteaux is a rare genetic disease consisting of osteochondromas and enchondromas, caused by loss of function of the PTPN11 gene. It is distinct from other cartilaginous tumors such as multiple osteochondromas and hereditary multiple exostosis by the distribution and orientation of lesions, and pattern of inheritance. In Metachondromatosis osteochondromas typically occur in hands, feet, femur, and tibia while enchondromas commonly affect the pelvic bones and femurs. Both tumors are generally reported to regress in adulthood. To the best of our knowledge only one case of Chondrosarcoma has been reported, and our case is the second reported case of Chondrosarcoma in metachondromatosis.


Assuntos
Neoplasias Ósseas/patologia , Condromatose/patologia , Condrossarcoma/patologia , Exostose Múltipla Hereditária/patologia , Adulto , , Mãos , Humanos , Masculino
20.
Artigo em Francês | MEDLINE | ID: mdl-27531415

RESUMO

INTRODUCTION: The aim of our study was to analyse a series of patients suffering from temporomandibular joint (TMJ) chondromatosis treated in 2 departments of stomatology and maxillofacial surgery (University hospitals of the Conception in Marseille and of Caen) and to make a general review of this disease. MATERIAL AND METHODS: We conducted a retrospective study including all the patients treated for a TMJ chondromatosis in one of these 2 departments. Following parameters were analyzed: sex, ages at discovery and at surgery, symptoms, side, imaging, histology, recurrence and any other events considered as relevant. RESULTS: Fourteen patients could be included: 85.7 % were women. Average age at diagnosis was 40.14 (σ = 13.82; IC95: 32.90-47.38) (41 for women [σ = 14.74; IC95: 33.28-48.72] and 35 years for men [σ = 5.66, IC95: 27.16-42.84]). Average age at surgery was 40.86 (σ = 14.18; IC95: 33.43-48.28). There was no predominance of side; 57.14 % of the patients had a joint syndrome, 57.14 % a tumor syndrome, 28.57 % had pain and 14.29 % had headaches. Panoramic X-ray was informative in 3 cases only. CT scan showed intra-articular calcifications in half of the cases only but arthrosic modifications in all the cases. Magnetic resonance imaging (MRI) constantly showed intra-articular cartilage fragments. When histology was performed, it found the synovial to be normal in one case and multiple nodules with clear cartilaginous differentiation in another case. One patient suffered from a second contralateral localization 10 years later. DISCUSSION: Chondromatosis has a slow evolution and is asymptomatic for a long time. MRI allows to evoke the diagnosis and to locate precisely the osteochondromas. Diagnosis is confirmed by histology that highlights a synovial metaplasia and more or less calcified chondromas. The main differential diagnosis to be eliminated because of prognostic reasons is the synovial chondrosarcoma. Treatment consists in surgical removing of the chondromas. Evolution is usually favorable.


Assuntos
Condromatose Sinovial , Condromatose , Transtornos da Articulação Temporomandibular , Adulto , Condromatose/diagnóstico , Condromatose/epidemiologia , Condromatose/cirurgia , Condromatose Sinovial/diagnóstico , Condromatose Sinovial/epidemiologia , Condromatose Sinovial/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva , Estudos Retrospectivos , Articulação Temporomandibular/patologia , Articulação Temporomandibular/cirurgia , Transtornos da Articulação Temporomandibular/diagnóstico , Transtornos da Articulação Temporomandibular/epidemiologia , Transtornos da Articulação Temporomandibular/cirurgia
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