Case-report-of-a-rare-disease—melorheostosis

Introduction: Melorheostosis is a rare, non-genetic, non-developmental, sclerosing developmental dysplasia of bone and adjacent soft tissue. The characteristic radiographic appearance is that of candle wax dripping. Diagnosis is usually based on classical radiographic appearance rather than clinical picture. A 26 year old female with dullCase report: aching pain over upper third left leg and knee with limitation in movements and associated swelling. On examination tenderness and limitation of movements were present. Plain radiograph showed extensive, dense, undulating or irregular cortical hyperostosis, resembling candle wax dripping along length of left tibia suggestive of Melorheostosis and MRI showed features of Osteopathica striata of left femur and Osteopoikilosis of left hip joint. Inj. Zolindronic acid given. Physiotherapy was started to avoid contractures. Lab investigations in Melorheostosis is usuallyConclusion: normal. Exact pathophysiology of the disease remains uncertain. No curative treatment options are available. Bisphosphonates, Denosumab and physiotherapy are the available options for treatment.

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 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.

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: Report of 2 Cases / 대한정형외과학회잡지

Melorheostosis is a rare disease entity of bone with an etiology and pathogenesis. It cause pain and stiffness in an affected limb, and dense bone formation along the side of bone resembles the flow of candle dripping. Two cases of the disease involving left hand and wrist, and right lower leg are reported with the review of literature.

Melorheostosis Associated with Synovial Chondromatosis / 대한정형외과학회잡지

Melorheostosis is a rare entity while causes pain and stiffness in a limb and has an unknown etiology. It is characterized by roentgenographic appearance of melting wax dripping down one side of a candle along the major axis of long bone. The present case represents a melorheostosis of the left tibia accompanied by synovial chondromatosis in the left knee. Good result was obtained by arthrotomy of the left knee and removal of the bony masses in the joint.