RESUMO
OBJECTIVE: Melorheostosis is a rare, non-hereditary, benign bone disease characterized by abnormal bone growth. Generally, melorheostosis develops during childhood or adolescence and progresses gradually over time. This disease represents a true challenge to the physician because of its variability due to location, extension of the affected bone, and involvement of associated soft tissue. Pain management, physical therapy, and surgery may be recommended, depending on the individual case. This review aims to get an overview of the latest evidence relating to epidemiology, clinical and radiographic characteristics, diagnosis, and possible therapeutic strategies for melorheostosis and describe our experience through a clinical case. METHODS: We designed a comprehensive literature search on melorheostosis in MEDLINE (via Pubmed) up to April 2023 and reviewed reports published in international journals. RESULTS: The purpose is to highlight the importance of a multidisciplinary approach in the management of a rare disease such as melorheostosis. We discuss the role of different physicians, including genetists, rheumatologists, physiatrists, physical therapists, and orthopedic surgeons, in providing accurate diagnoses and effective treatments. We conducted a comprehensive review of the literature on the treatment of melorheostosis to support these findings. In addition, the article presents a case study of a patient suffering from melorheostosis, focusing on difficulties in reaching a correct diagnosis and attempts towards conservative and surgical interventions. The patient underwent hip arthroplasty, and the final result was an improvement in function and a reduction in pain. CONCLUSIONS: Managing melorheostosis can be challenging, and there is no standardized treatment for this condition at the moment.
Assuntos
Melorreostose , Adolescente , Humanos , Melorreostose/complicações , Melorreostose/cirurgia , Melorreostose/diagnóstico , Dor , Manejo da Dor , Resultado do Tratamento , Doenças RarasRESUMO
ABSTRACT: A 16-year-old girl presented with left chest pain. Radiography and CT revealed localized abnormal calcification in the left sixth rib and sixth thoracic vertebra. Bone scintigraphy confirmed abnormal uptake of 99m Tc in the same area. An open biopsy of the sixth rib was performed, leading to the diagnosis of melorheostosis. This case showed uniformly thickened calcification throughout the rib, unlike the typical "dripping candle wax" radiography finding associated with melorheostosis. This case implies the importance of open biopsy for diagnostic confirmation in cases with atypical imaging features.
Assuntos
Melorreostose , Costelas , Tomografia Computadorizada por Raios X , Humanos , Melorreostose/diagnóstico por imagem , Feminino , Costelas/diagnóstico por imagem , Costelas/patologia , AdolescenteRESUMO
La displasia ósea esclerosante es una afectación en el desarrollo intrínseco del esqueleto, por alteración en la formación y modelado del hueso, que lleva a una excesiva acumulación ósea con un aumento de la densidad (esclero-sis). Existen varios tipos y todos ellos son de origen genético. Presentamos el caso de una paciente de 37 años que llega a la consulta sin diagnóstico previo, por dolor en miembros inferiores de larga evolución con reagudizaciones, asociado a deformidad e impotencia funcional, que cedía parcialmente con analgésicos comunes. (AU)
Bone sclerosing dysplasia is an affectation of the intrinsic development of the skeleton by an alteration in bone formation and modeling. It causes excessive bone accumulation with an increase in density (sclerosis). There are several types of bone sclerosing dysplasia. They are of genetic origin. We report here a 37 year-old patient without a previous diagnosis of sclerosing bone dysplasia who was seen in the clinic for pain in the lower limbs associated with bone deformity with only partial response to analgesics. (AU)
Assuntos
Humanos , Feminino , Adulto , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Melorreostose/diagnóstico por imagem , Imageamento por Ressonância Magnética , Radiografia , Tomografia Computadorizada Espiral , Manejo da Dor , Quadril/patologia , Perna (Membro)/patologiaRESUMO
Paciente de 22 años con rigidez congénita de miembro superior izquierdo y hallazgos en angio TAC de pseudocoartación aórtica y aneurismas a varios niveles (aorta ascendente, cayado aórtico, arteria mesentérica superior, mesentérica inferior, renales segmentarias, aorta abdominal y arteria hipogástrica izquierda). Presenta imagen en "gota de cera" en radiografía de pelvis y en angio RM destacan lesiones esclerosas poliostóticas y malformación arteriovenosa en partes blandas de cadera izquierda. No se realiza estudio genético por la negativa del paciente
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Assuntos
Humanos , Adulto Jovem , Melorreostose/diagnóstico por imagem , Melorreostose/etiologia , Aneurisma da Aorta Abdominal/complicações , Aneurisma da Aorta Abdominal/diagnóstico por imagem , Angiografia por Tomografia ComputadorizadaRESUMO
El término "distrofia ósea esclerosante mixta" describe la combinación de las características radiológicas correspondientes a melorreostosis, osteopoiquilosis y osteopatía estriada, como entidades individuales, que ocurren en un mismo paciente. El objetivo de esta comunicación es presentar el caso clínico de una paciente con diagnóstico de distrofia ósea esclerosante mixta y, a partir de este caso, realizar una revisión sobre el tema. (AU)
The term "mixed-sclerosing-bone-dystrophy" describes the combination of the radiological characteristics corresponding to melorheostosis, osteopoikilosis and osteopathia striata, as individual conditions, ocurring in the same patient. The aim of this communication is to present the clinical case of a patient diagnosed with mixed-sclerosing-bone-dystrophy and, based on this case, to undertake a review of this condition. (AU)
Assuntos
Humanos , Feminino , Adulto , Osteopecilose/diagnóstico , Doenças Ósseas Metabólicas/diagnóstico , Melorreostose/diagnóstico , Osteíte Deformante/diagnóstico , Osteíte Deformante/tratamento farmacológico , Osteíte Deformante/sangue , Osteopecilose/sangue , Radiologia , Tíbia/diagnóstico por imagem , Doenças Ósseas Metabólicas/sangue , Menopausa Precoce/metabolismo , Fêmur/diagnóstico por imagem , Pamidronato/administração & dosagem , Melorreostose/sangueRESUMO
Melorheostosis is a very rare sclerosing bone disease with pain, joint stiffness, and limitation of motion. Its characteristic on radiography is a dense bone formation along the side of the bone, resembling the flow of candle grease. Various conservative or surgical methods have been practiced in treating pain and deformities. This is a report on the successful treatment result of six cases of melotheostosis, involving the metatarsal, metacarpal, clavicle, and tibia, which weretreated by conservative and operative treatment methods.
Assuntos
Artralgia , Doenças Ósseas , Clavícula , Anormalidades Congênitas , Melorreostose , Ossos do Metatarso , Osteogênese , Radiografia , TíbiaRESUMO
La melorreostosis es una forma de hiperostosis que afecta tanto al tejido óseo como a las partes blandas adyacentes. Su incidencia es variable aunque es mayor en la segunda y tercera décadas de la vida debido al carácter lentamente progresivo de la enfermedad. Generalmente cursa con dolor que puede llegar a provocar una limitación funcional importante. Para su diagnóstico nos podemos apoyar en la imagen radiológica característica que semeja "cera fundida deslizándose por el lateral de una vela". Se presenta un caso de melorreostosis con hallazgos clínicos y radiológicos característicos. El paciente había sido diagnosticado previamente de enfermedad ósea de Paget, por lo que planteamos el diagnóstico diferencial de esta patología (AU)
Melorheostosis is a form of hyperostosis which affects both bone and the adjacent soft tissues. Its incidence is variable, although it is higher in the second and third decades of life due to the slowly progressive nature of the disease. It generally presents with pain which may cause significant functional limitation. We may be assisted in its diagnosis by its characteristic radiological image which resembles "wax melting down the side of a candle". A case of melorheostosis is presented with clinical findings and radiological characteristics. The patient had previously been diagnosed with Pagets disease of bone, so we proposed a differential diagnosis of this pathology (AU)
Assuntos
Adulto , Humanos , Masculino , Melorreostose/diagnóstico , Hiperostose/complicações , Diagnóstico Diferencial , Osteíte Deformante/diagnósticoRESUMO
Melorheostosis is a rare disease, belonging to the sclerotic bone dysplasia group. Initially described by Leri and Joanny in 1922, its etiology remains unknown. Onset is usually insidious, with deformity of the extremity, pain, limb stiffness, and limitation of motion in the joints. The typical radiographic appearance consists of irregular hyperostotic changes of the cortex, resembling melted wax dripping down one side of a candle. Treatment is usually symptomatic and conservative; however, conservative treatment is unsatisfactory due to functional issues when involving the distal extremity. We report on two cases of melorheostosis with synovial chondromatosis of the foot treated by mass excision.
Assuntos
Tornozelo , Doenças do Desenvolvimento Ósseo , Condromatose Sinovial , Anormalidades Congênitas , Extremidades , Pé , Articulações , Melorreostose , Doenças RarasRESUMO
We report a 56-year-old female with symptomatic protrusion of the bony lesion in the trapezium. Excision and biopsy of the bony lesion revealed thickened and sclerotic bony trabecula with adjacent zone of fibrocartilage, which is comparable with melorheostosis. This lesion with unique radiologic and histologic findings may be important to differentiate with other bony lesions such as myositis ossifications and osteosarcoma.
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Biópsia , Fibrocartilagem , Melorreostose , Miosite , OsteossarcomaRESUMO
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Assuntos
Humanos , Masculino , Adulto , Melorreostose/diagnóstico por imagem , CintilografiaRESUMO
Melorheostosis is a rare, progressive bone disease accompanied by hyperostosis and soft tissue fibrosis. While affected adults present with contracture and pain, children present with limb length discrepancy and deformity. We report the case of a 20-year-old woman with melorheostosis since childhood who presented with right hand deformity and numbness. Radiographs showed not only a combination of dense sclerosis and opacities, but also the classic 'flowing candle wax' appearance. Radiography can be used to identify melorheostosis, thus preventing unnecessary bone biopsies. Carpal tunnel release revealed the presence of a thickened flexor retinaculum and a degenerated median nerve distal to the retinaculum, but did not show hyperostosis. This case highlights the role of nerve decompression in melorheostosis and the importance of early identification of the disease to prevent unnecessary bone biopsies.
Assuntos
Feminino , Humanos , Adulto Jovem , Síndrome do Túnel Carpal , Diagnóstico por Imagem , Cirurgia Geral , Diagnóstico Diferencial , Fibrose , Patologia , Mãos , Patologia , Deformidades da Mão , Diagnóstico por Imagem , Cirurgia Geral , Hipestesia , Nervo Mediano , Cirurgia Geral , Melorreostose , Diagnóstico por Imagem , Cirurgia Geral , Radiografia , Esclerose , Diagnóstico por ImagemRESUMO
La melorreostosis, también denominada enfermedad de Leri, es una displasia ósea esclerosante no familiar, de baja prevalencia, de etiología poco clara, descrita en 1922 por Leri y Jhonny; afecta igualmente a hombres y mujeres, suele manifestarse alrededor de los 20 años de edad, hasta en la mitad de los casos. Esta osteopatía es usualmente asimétrica y compromete, principalmente, las extremidades inferiores, siendo raro el compromiso del cráneo, huesos de la cara y de la columna. Se presenta un caso de una paciente, de 49 años de edad, con compromiso de múltiples estructuras óseas y distribución inusual.
Melorheostosis, also called Leris disease is a non-familial sclerosing bone displasia, with low prevalence and a etiology that remains unclear, it was described in 1922 by Leri and Jhonny; it affects men and women equally; it usually makes evident by age 20 years in almost half cases. This bone disease is usually asymmetric and involves primarily the lower extremities, with rare involvement of the skull, facial bones and spine. We report a case of a 49 years old, with involvement of multiple bone structures and unusual distribution.
Assuntos
Humanos , Hiperostose , MelorreostoseRESUMO
Melorheostosis is a rare disease (0.9/million habitants), characterized by linear hyperostosis along the cortex bone. It can affect any bone, being more frequent in long bones. The lesions tend to be segmental and unilateral. The etiology remains unknown although several theories proposed over the past year (vascular, inflammatory processes, embryonic defects or genetic). Show no significant difference between sexes or heredity. Clinical manifestations are mainly pain, deformity and joint stiffness. The diagnosis is obtained by combining the clinical findings with imaging studies (mainly radiography with typical image in "candle wax"). There is no definitive or specific treatment, being always palliative. We describe a case of a patient of twenty-four years, followed in Orthopedic consultation since age eight, with a deformity of the right side of the body. X-rays showed hyperostosis of the bones of the limbs in the right side of the body (image in "candle wax"). The patient is in physical therapy program and has a positive response to analgesia with ibuprofen.
A melorreostose é uma doença rara (0,9/milhão de habitantes), caraterizada por hiperostose linear ao longo do córtex ósseo. Pode afetar qualquer osso, mas é mais frequente nos ossos longos. As lesões tendem a ser segmentares e unilaterais. A etiologia permanece desconhecida, apesar de várias teorias propostas ao longo dos últimos anos (alterações vasculares, processos inflamatórios, defeitos embrionários ou genéticos). Não apresenta diferença significativa entre sexos ou hereditariedade. As manifestações clínicas são principalmente a dor local, a deformidade e a rigidez articular. O diagnóstico é obtido pela conjugação da clínica com os exames imagiológicos (principalmente radiografia com imagem típica em "cera derretida"). Não existe tratamento definitivo ou específico, é sempre paliativo. Descreve-se um caso clínico de um doente de 24 anos, seguido em consulta externa de ortopedia desde os 8 anos, por deformidade do hemicorpo direito. O RX revelou hiperostose dos ossos dos membros do hemicorpo direito (imagem em "cera derretida"). O doente encontra-se em vigilância clínica e em programa de fisioterapia com resposta positiva à analgesia com ibuprofeno.
Assuntos
Humanos , Masculino , Adulto Jovem , Hiperostose , Melorreostose , OsteoscleroseRESUMO
Melorheostosis is a rare disorder characterized by irregular, flowing hyperostosis in long bones, commonly described on radiographs as wax flowing down a candle. In addition to bony sclerosis, cutaneous manifestations overlying the involved bones have been reported including linear scleroderma, neurofibromatosis, and vascular and lymphatic malformations. Unilateral nevoid telangiectasia (UNT) is a rare primarily cutaneous condition characterized by linearly arranged small dilated blood vessels in dermatomal or Blaschkoid patterns on the skin. Here, we present the case of a nine-year-old Korean male with UNT associated with ipsilateral melorheostosis.
Assuntos
Humanos , Masculino , Vasos Sanguíneos , Hiperostose , Melorreostose , Neurofibromatoses , Esclerodermia Localizada , Esclerose , Pele , TelangiectasiaRESUMO
La melorreostosis es una rara displasia ósea benigna esclerosante.Su etiología es desconocida y ambos sexos pueden verse afectados. Los huesos largos de las extremidades inferiores y los tejidos blandos adyacentes son los más frecuentementeinvolucrados. La enfermedad se presenta raramente en los miembros superiores y se han comunicado muy pocos casos localizados en la mano. Comunicamos el caso de una niña de 7años de edad que presenta características típicas de melorreostosisen la mano derecha. El diagnóstico se realizó mediante radiografía convencional y gammagrafía ósea. La resonancia magnética contribuyó a la evaluación de las lesiones en partesblandas. El tratamiento médico permitió aliviar el dolor y mejorar la movilidad. Como la melorreostosis tiene una tendencia variable hacia la progresión de las lesiones y asociación conpatologías tumorales, se recomienda un estricto control periódicode estos pacientes.
Melorheostosis is a rare benign sclerosing bone dysplasia. Its etiology is unknown. Both sexes can be affected. Sites most frequently involved are the long bones of the lower limbs andthe adjacent soft tissue structures. The disease is unusual in the upper limbs, and few cases have been reported in the hand. We report the case of a 7-year-old girl who had typical featuresof melorheostosis in the right hand. Diagnosis was made by conventional radiography and bone scintigraphy. Magnetic resonance contributed to the assessment of soft tissue lesions.Medical treatment allowed pain relief and range of motion improvement. Because melorheostosis has a variable tendency towards progression and association with tumors, a close follow-up of these patients is recommended.
Assuntos
Humanos , Feminino , Criança , Mãos/patologia , Melorreostose/etiologia , Melorreostose/terapia , Melorreostose , Osteocondrodisplasias , OsteoscleroseRESUMO
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