Displasia ósea esclerosante en paciente adulto sin diagnóstico previo: presentación de un caso / Bone sclerosing dysplasia in an adult patient without previous diagnosis: a case report

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)

Distrofia ósea esclerosante mixta / Mixed-sclerosing-bone-dystrophy

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)

Management of Melorheostosis / 대한정형외과학회잡지

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.

Melorheostosis with Synovial Chondromatosis of the Foot: A Report of Two Cases / 대한족부족관절학회지

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.

Melorheostosis of the hand affecting the c6 sclerotome and presenting with carpal tunnel syndrome

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.

Melorheostosis of the Trapezium

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.

Melorheostosis: A case report / Melorreostose - apresentacao de um caso

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.

Melorreostosis con compromiso de múltiplesestructuras óseas y distribución inusual / Melorheostosis with involvement of multiple bone structures and unusual distribution

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 Leri’s 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.

Unilateral Nevoid Telangiectasia Associated with Ipsilateral Melorheostosis

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.

Melorreostosis de la mano en un paciente pediátrico / Melorheostosis of the hand in a pediatric patient

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.

[Atypical form of melorheostosis improved by pamidronate]

Melorheostosis is a rare chronic bone disease of unknown etiology that often affects a single limb. Report a new case of melorheostosis of the ribs improved by pamidronate infusions. A 36 year old man without any medical history was admitted for a history of one month painful tumefaction on the 7th left rib. The diagnosis of melorheostosis of the rib and the tibia was made. Patient was treated by pamidronate infusions with useful and satisfactory outcome

Spontaneous bilateral chylothorax with fatal outcome in a patient with melorheostosis

We report a case of progressive, multifocal melorheostosis in a 28-year-old woman, with involvement of the left arm, chest, spine, and impressive soft tissue involvement. In the past, she had undergone multiple vascular interventions. She presented with spontaneous massive bilateral chylothorax. After conservative treatment without success, we conducted bilateral pleurodesis. This resulted in a clear reduction of pleural effusions, but her medical condition subsequently worsened due to progressive parenchymatous infiltrates, and increased interlobal pleural effusions. She ultimately died of global respiratory insufficiency. In patients with melorheostosis, involvement of the soft tissue can result in distinctive morbidity, and whenever possible, treatment should be conservative

Derrame pleural quiloso na melorreostose: relato de caso com revisão da literatura / Chylous pleural effusion in melorheostosis a case with literature review

O objetivo desse estudo foi fazer uma revisão dos sinais clínicos e radiológicos de um caso atípico de melorreostose: uma mulher de 62 anos com alterações hiperostóticas irregular, de envolvimento bilateral, nos ossos raramente afetados como clavícula, escápula, costelas e crânio. Adicionalmente, a paciente tem múltiplos nevos e o diagnóstico foi feito devido a um quilotórax resistente a terapia e com evolução rápida para insuficiência respiratória.

Melorheostosis in the Hand: A Case Report / 대한정형외과학회잡지

Melorheostosis usually affects long bones of the lower limbs, and the hand is a relatively uncommon site of presentation. This disease is diagnosed by its characteristic X-ray finding and is confirmed by histololgic examination. Recently, Magnetic Resonance (MR) images have been used to evaluate disease activity and to understand soft tissue pathoanatomy in melorheostosis. The authors evaluated the activity of the melorheostosis indirectly with MR imaging and achieved a good symptomatic result with conservative treatments.

Melorheostosis: reporte de un caso clínico / Melorheostosis: report of a clinic case

Reportamos el caso de una paciente de 16 años de edad quien inició su enfermedad a los 16 años de edad cuando observó aumento progresivo del diámetro del miembro inferior derecho y 15 años después presentó como complicación: rigidez en tobillo derecho y dificultad para la marcha; consultó a médico en Hospital Vargas donde diagnosticaron por medio de estudio radiológico del miembro aumento de la densidad de la masa ósea, patognomónica de Melorheostosis un tipo de hiperostosis que se distribuye en forma de flujo a lo largo de la corteza. La palabra melorheostosis proviene del griego "melo" (miembros) y "rhein" (derrame), recordando la imagen radilógica a la de una vela derretida. La paciente fue referida al Departamento de Endocrinológia del Hospital Militar "Dr Carlos Arvelo", quienes después de su evaluación decidieron referirla al Departamento de Traumatología quienes realizaron exostectomía por artroscopia en tobillo derecho

Melorreostosis. Informe de un caso clínico / Melorheostosis. Case report

La melorreostosis es considerada una enfermedad poco frecuente, que se caracteriza por lesiones en forma de escurrimientos de cera o sea imágenes de osteoesclerosis distribuidas a lo largo del eje mayor de los huesos. Puede involucrar articulaciones, tener invasión a tejidos blandos, produciendo fibrosis y dando como resultado contracturas y angulaciones de las extremidades afectadas. Presentamos el caso de una paciente de 17 aÏos de edad la cual sufre lumbalgia ocasional, acortamiento del miembro pélvico derecho y genu valgus del mismo, todo esto progresivo desde su infancia.Los estudios radiográficos muestran una imagen de escurrimiento de cera sugestiva de esta enfermedad en cadera y fémur derecho. Discutimos el origen de esta lesión y revisamos la literatura médica disponible.

Imaging of Melorheostosis: Emphasis on MR Imaging Findings

PURPOSE: To evaluate the usefulness of various radiographic imaging modalities in the diagnosis and characterization of melorheostosis. MATERIALS AND METHODS: We retrospectively evaluated the plain film (n=8), computed tomographic (CT) imaging (n=5) and magnetic resonance (MR) imaging (n=5) findings of eight patients with melorheostosis diagnosed by bone biopsy (n=4) and characteristic radiographic findings (n=8). MR images were obtained with a 1.5-T scanner focused on the region of maximal radiographic abnormality. Pulse sequences include T1-weighted SE, T2-weighted fast SE (n=5) and postcontrast imaging (n=4). In order to define subtle enhancement of the lesions, subtraction MR images were obtained in one case. Imaging findings were analyzed with particular emphasis on the distribution of lesions along the sclerotome, differential radiographic findings between diaphyseal and metaepiphyseal lesions of the long bones, as seen on plain radiographs, and the density and signal characteristics of hyperostotic, lesions, as seen on CT and MR images. RESULTS: Characteristic distribution along the sclerotome was identified in five of eight cases mainly along C6 and 7 (n=2) and L3, 4 and 5 (n=3) sclerotomes. In diaphyseal melorherostosis (8/8), a characteristic finding, i.e., a wax flowing down from the candle, was identified on plain radiographs. In all three patients with metaepiphyseal melorheostosis (3/8), multiple round or oval hyperostotic lesions were seen in the epiphysis and metaphysis of the long bones. On CT, the marrow cavity was partly obliterated by hyperostotic lesions in all five patients with endosteal hyperostosis. Among these, central ground glass opacity with a sclerotic rim was seen in three patients. Periosteal hyperostosis was seen in two of five cases, being visualized as irregular excrescences in the periosteal region and surrounding soft tissue. Individual hyperostosis was visualized as hypointense on T1-weighted images and as a hyperintense center with a surrounding hypointense rim on T2-weighted images (5/5). On postcontrast images, central enhancement was noted in all four cases. In one of these, in which the degree of central enhancement was subtle, subtraction images (postcontrast SE- precontrast SE) also revealed a central signal increment. Central enhancement corresponded to the hyperintense center seen on T2-weighted images (4/4) and the ground-glass opacity seen on CT (2/2). CONCLUSION: Radiographic imaging plays a crucial role in the diagnosis of melorheostosis. The future role of gadolinium-enhanced MR imaging in the characterization of the lesion may be important though further evaluation and pathologic correlation is required.

Melorreostose em reabilitaçäo / Melorheostosis in rehabilitation

A melorreostose é uma patologia rara, caracterizada por uma hiperostose linear do córtex, de etiologia desconhecida, podendo afetar qualquer estrutura óssea do organismo, sendo mais comum nos ossos longos. A melorreostose espinhal e craniana necessitando de intervençäo neurocirúrgica é pouco frequente, podendo causar lesöes neurológicas. Dependendo do local acometido e da agressividade da doença, alguns pacientes necessitaräo do tratamento fisiátrico, uma vez que as fraturas patológicas dos ossos poderäo causar perdas graves quanto à capacidade funcional, tornando a medicina de reabilitaçäo fundamental na melhoria da qualidade de vida desses pacientes.