-
Annals of Saudi Medicine 2014Melorheostosis is an uncommon, sporadic, sclerosing bone lesion that may affect the adjacent soft tissues. It has been associated with many entities such as...
Melorheostosis is an uncommon, sporadic, sclerosing bone lesion that may affect the adjacent soft tissues. It has been associated with many entities such as osteopoikilosis, soft tissue vascular malformations, bone and soft tissue tumors, nephrotic syndrome, segmental limb contractures, osteosarcoma, desmoid tumor, and mesenteric fibromatosis. Synovial osteochondromatosis is a benign neoplasia of the hyaline cartilage presenting as nodules in the subsynovial tissue of a joint or tendon sheath. The intra-articular extension of melorheostosis mimicking synovial osteochondromatosis has not been reported before. In this article, the authors describe an unusual case mimicking synovial chondromatosis arising as a result of melorheostosis and their characteristic imaging findings.
Topics: Chondromatosis, Synovial; Diagnosis, Differential; Female; Humans; Knee Joint; Magnetic Resonance Imaging; Melorheostosis; Middle Aged
PubMed: 25971832
DOI: 10.5144/0256-4947.2014.547 -
The Journal of Experimental Medicine May 2020In the current issue of JEM, Kang et al. (https://doi.org/10.1084/jem.20191499) describe somatic mutations in the SMAD3 gene causing endosteal melorheostosis. Using...
In the current issue of JEM, Kang et al. (https://doi.org/10.1084/jem.20191499) describe somatic mutations in the SMAD3 gene causing endosteal melorheostosis. Using osteoblast models, the identified mutations are demonstrated to exert a gain-of-function mechanism, augmenting transforming growth factor (TGF) β signaling. These findings provide further insights into the genetic etiology of melorheostosis and consolidate the importance of the TGFβ pathway in skeletal disorders.
Topics: Humans; Melorheostosis; Mutation; Osteoblasts; Signal Transduction; Smad3 Protein; Transforming Growth Factor beta
PubMed: 32289153
DOI: 10.1084/jem.20200185 -
The British Journal of Radiology Jun 2016There is a wide variety of hereditary and non-hereditary bone dysplasias, many with unique radiographic findings. Hereditary bony dysplasias include osteopoikilosis,... (Review)
Review
There is a wide variety of hereditary and non-hereditary bone dysplasias, many with unique radiographic findings. Hereditary bony dysplasias include osteopoikilosis, osteopathia striata, osteopetrosis, progressive diaphyseal dysplasia, hereditary multiple diaphyseal sclerosis and pyknodysostosis. Non-hereditary dysplasias include melorheostosis, intramedullary osteosclerosis and overlap syndromes. Although many of these dysplasias are uncommon, radiologists should be familiar with their genetic, clinical and imaging findings to allow for differentiation from acquired causes of bony sclerosis. We present an overview of hereditary and non-hereditary bony dysplasias with focus on the pathogenesis, clinical and radiographic findings of each disorder.
Topics: Bone Diseases, Developmental; Diagnosis, Differential; Evidence-Based Medicine; Genetic Predisposition to Disease; Humans; Osteosclerosis
PubMed: 26898950
DOI: 10.1259/bjr.20150349 -
Cureus Jun 2020Melorheostosis is a very rare bone dysplasia, especially in the hand. Most cases were diagnosed incidentally, with the lower limbs being the most affected. This is the...
Melorheostosis is a very rare bone dysplasia, especially in the hand. Most cases were diagnosed incidentally, with the lower limbs being the most affected. This is the first Saudi woman with hand melorheostosis. A 33-year-old Saudi female had mild to moderate right-hand pain that started six years ago. Hand examination showed a full range of motion and full hand grip, and there was no tenderness upon palpation. Plain X-ray, unenhanced CT scan, and MRI of the hand showed an appearance resembling dripping candle wax as melorheostosis. The bone scan showed a nonvascular and nonacute lesion. An unenhanced CT scan demonstrated cortical and endosteal hyperostosis involving the proximal, middle, and distal third and fourth phalanges. Multi-sequential MRI of the hand demonstrated cortical hyperostosis involving the ulnar and radial aspect of the right fourth proximal, middle, and distal phalanges. Features in the X-ray, CT scan, bone scan, and MRI confirmed a diagnosis of melorheostosis with associated flexor tenosynovitis.
PubMed: 32626632
DOI: 10.7759/cureus.8877 -
The American Journal of Surgical... Nov 2019Melorheostosis is a rare sclerosing bone disease characterized by excessive cortical bone deposition that is frequently on the differential diagnosis for bone biopsies.... (Clinical Trial)
Clinical Trial
Melorheostosis is a rare sclerosing bone disease characterized by excessive cortical bone deposition that is frequently on the differential diagnosis for bone biopsies. Although the radiologic pattern of "dripping candle wax" is well known, the pathologic findings have been poorly defined. Here, we comprehensively describe the histology of melorheostosis in 15 patients who underwent bone biopsies. Common histologic findings included: dense cortical bone (73.3%), woven bone (60%), and hypervascular features and increased porosity (66.7%). One third of the patients (5/15) also had prominent cement lines. Multiple patients had >1 histologic pattern (ie, dense cortical bone and hypervascularity). Overall, this study suggests that melorheostosis exists with several histologically distinct patterns. When confronted with a case of suspected melorheostosis, the clinical pathologist should use the histologic features common to melorheostotic lesions presented here in conjunction with the patient's clinical presentation and radiographic findings to arrive at a diagnosis. An illustrative case is presented.
Topics: Adult; Aged; Diagnosis, Differential; Female; Humans; Magnetic Resonance Imaging; Male; Melorheostosis; Middle Aged; Radiography
PubMed: 31386640
DOI: 10.1097/PAS.0000000000001310 -
Clinical Case Reports May 2019It is important to consider the rare case of a melorheostosis in patients presenting with soft tissue swelling, joint contractures, and "dripping candle wax"-like...
It is important to consider the rare case of a melorheostosis in patients presenting with soft tissue swelling, joint contractures, and "dripping candle wax"-like hyperostoses visible on hand radiographs. Clinical sequelae such as carpal tunnel syndrome or trigger finger have to be ruled out. Symptomatic therapy is usually sufficient.
PubMed: 31110758
DOI: 10.1002/ccr3.2160 -
Hand (New York, N.Y.) Mar 2011Melorheostosis of the hand is rare. We report a 28-year-old woman with persistent pain associated with a slowly growing mass on the dorsum of the right thumb. The...
Melorheostosis of the hand is rare. We report a 28-year-old woman with persistent pain associated with a slowly growing mass on the dorsum of the right thumb. The radiographs, computed tomography, and magnetic resonance imaging were used to examine characteristic of melorheostosis involving the trapezium bone, first metacarpal, and proximal phalange. The lesions underwent a surgical debulking of the hyperostotic cortex and a cortical fenestration.
PubMed: 22379444
DOI: 10.1007/s11552-010-9291-7 -
BMJ Case Reports 2010We report a case of melorheostosis, a rare bone disorder characterised by mesodermal dysplasia, and its successful and prolonged treatment with the intravenous...
We report a case of melorheostosis, a rare bone disorder characterised by mesodermal dysplasia, and its successful and prolonged treatment with the intravenous bisphosphonate zoledronic acid. The middle-aged man presented with pain and swelling of his tibia, which was diagnosed by imaging and bone biopsy as being due to melorheostosis. There was early symptom control after a single infusion of intravenous zoledronic acid. Prolonged symptom relief was accompanied by long-term suppression of the bone resorption marker β cross-laps. We suggest that melorheostosis can be treated with intravenous zoledronic acid and that treatment can be monitored by the use of a specific bone resorption marker.
PubMed: 22479293
DOI: 10.1136/bcr.04.2009.1757 -
Nucleic Acids Research Dec 2018Receptor-regulated SMAD (R-SMAD: SMAD1, SMAD2, SMAD3, SMAD5 and SMAD8) proteins are key transcription factors of the transforming growth factor-β (TGF-β) superfamily...
Receptor-regulated SMAD (R-SMAD: SMAD1, SMAD2, SMAD3, SMAD5 and SMAD8) proteins are key transcription factors of the transforming growth factor-β (TGF-β) superfamily of cytokines. MAN1, an integral protein of the inner nuclear membrane, is a SMAD cofactor that terminates TGF-β superfamily signals. Heterozygous loss-of-function mutations in MAN1 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. MAN1 interacts with MAD homology 2 (MH2) domains of R-SMAD proteins using its C-terminal U2AF homology motif (UHM) domain and UHM ligand motif (ULM) and facilitates R-SMAD dephosphorylation. Here, we report the structural basis for R-SMAD recognition by MAN1. The SMAD2-MAN1 and SMAD1-MAN1 complex structures show that an intramolecular UHM-ULM interaction of MAN1 forms a hydrophobic surface that interacts with a hydrophobic surface among the H2 helix, the strands β8 and β9, and the L3 loop of the MH2 domains of R-SMAD proteins. The complex structures also show the mechanism by which SMAD cofactors distinguish R-SMAD proteins that possess a highly conserved molecular surface.
Topics: Amino Acid Motifs; Animals; Computer Simulation; Crystallography, X-Ray; Cytokines; DNA Mutational Analysis; DNA-Binding Proteins; HEK293 Cells; Humans; Hydrophobic and Hydrophilic Interactions; Membrane Proteins; Mutation; Nuclear Envelope; Nuclear Proteins; Phosphorylation; Protein Binding; Protein Domains; Signal Transduction; Smad1 Protein; Smad2 Protein; Smad3 Protein; Transforming Growth Factor beta
PubMed: 30321401
DOI: 10.1093/nar/gky925 -
The Indian Journal of Medical Research Nov 2020
Topics: Bone and Bones; Humans; Melorheostosis
PubMed: 35345112
DOI: 10.4103/ijmr.IJMR_1745_19