-
Journal of Physical Therapy Science May 2015[Purpose] Osteopoikilosis is a rare hereditary bone disease that is usually asymptomatic. It is generally diagnosed incidentally on plain radiography. The coexistence of...
[Purpose] Osteopoikilosis is a rare hereditary bone disease that is usually asymptomatic. It is generally diagnosed incidentally on plain radiography. The coexistence of osteopoikilosis with seronegative spondyloarthritis or spinal stenosis is rarely reported. Here, we report the case of a 27-year-old male patient with osteopoikilosis, seronegative spondyloarthritis, and spinal stenosis. [Subject] A 27-year-old male patient with buttock pain and back pain radiating to the legs. [Methods] A plain anteroposterior radiograph of the pelvis revealed numerous round and oval sclerotic bone areas of varying size. Investigation of the knee joints showed similar findings, and the patient was diagnosed with osteopoikilosis. Lumbar magnetic resonance images showed spinal stenosis and degenerative changes in his lumbar facet joints. Magnetic resonance images of the sacroiliac joints showed bilateral involvement with narrowing of both sacroiliac joints, nodular multiple sclerotic foci, and contrast enhancement in both joint spaces and periarticular areas. HLA B-27 test was negative. [Results] The patient was diagnosed with osteopoikilosis, seronegative spondyloarthritis, and spinal stenosis. Treatment included asemetasin twice daily and exercise therapy. [Conclusion] Symptomatic patients with osteopoikilosis should be investigated for other possible coexisting medical conditions; this will shorten the times to diagnosis and treatment.
PubMed: 26157277
DOI: 10.1589/jpts.27.1625 -
Asian Journal of Surgery Nov 2022
Topics: Humans; Osteopoikilosis; Spine
PubMed: 35599119
DOI: 10.1016/j.asjsur.2022.05.016 -
Case Report of Osteopoikilosis: Sparse Cause of Bone Pain and Mimicker of Metastasis on Radiographs.Journal of Orthopaedic Case Reports Mar 2021Osteopoikilosis (OPK) is an extremely rare benign condition with autosomal dominant inheritance characterized by sclerosing bony dysplasia with multiple benign...
INTRODUCTION
Osteopoikilosis (OPK) is an extremely rare benign condition with autosomal dominant inheritance characterized by sclerosing bony dysplasia with multiple benign enostoses. It is characterized by symmetrically distributed numerous, small, well-defined, homogenous circular or ovoid radiodensities clustered in epiphysis and metaphysis of long bones in periarticular region, and in some cases diffusely present throughout axial and appendicular skeleton. There is no age and sex predilection; age at the time of diagnosis ranges from 15 to 60 years. It is usually asymptomatic but rarely in 15-20% patients slight juxta-articular pain and joint effusions can be seen. These are incidental radiological findings in most of the cases, also sometimes confused as bony metastasis. There are no specific clinical features; histological features are similar to bony island and it may be associated with connective tissue disorders, synovial osteochondromatosis, and a rare bone condition melorheostosis.
CASE REPORT
We present a case of OPK in a 32-year-old male with bilateral hip and shoulder pain, based on the available literature and focus on clinical significance, due to its mimicking capability of other more severe conditions such as bone metastases and an extremely uncommon cause of bone pain.
CONCLUSION
OPK is an uncommon hereditary condition involving juxta-articular region of long bones with intricate etiopathogenesis, often discovered incidentally on radiographs. It is characterized by multiple, symmetrical ovoid radiodensities, and in most instances confused with osteoblastic metastasis. This concludes that OPK is a condition that should be kept in mind to avoid misdiagnosis, in particular osteoblastic metastasis and undue distress to both the patients and doctors.
PubMed: 34239839
DOI: 10.13107/jocr.2021.v11.i03.2106 -
BMJ Case Reports May 2015
Topics: Adult; Humans; Knee; Low Back Pain; Male; Osteopoikilosis; Pelvis; Physical Therapy Modalities; Physical Therapy Specialty; Tomography, X-Ray Computed
PubMed: 25939972
DOI: 10.1136/bcr-2014-208422 -
Frontiers in Endocrinology 2024Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disease caused by mutations in genes responsible for the formation and development of...
INTRODUCTION
Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disease caused by mutations in genes responsible for the formation and development of adipocytes. Bone abnormalities are described. However, there is a scarcity of data.
OBJECTIVE
To describe bone characteristics in a large CGL1 and 2 case series.
METHODS
Cross-sectional study that assessed bone radiological features of CGL patients of a reference hospital in Fortaleza (CE), Brazil. Patients underwent clinical and bone mineral metabolism evaluation, radiographs of the axial and appendicular skeleton and bone mineral density (BMD) assessment by DEXA (dual energy X-ray absorptiometry).
RESULTS
Nineteen patients were included, fourteen were CGL1 and 5, CGL2. Median age was 20 years (8-42) and 58% were women. Median BMI and percentage of body fat were, respectively, 21 Kg/m² (16-24), and 10.5% (7.6-15). The median leptin concentration was 1 ng/mL (0.1-3.3). Diabetes mellitus and dyslipidemia were present in 79% and 63% of patients, respectively. Median calcium and phosphate were normal in almost all patients (95%). Median parathyroid hormone and 25-OH-vitamin D were 23 pg/mL (7-75) and 28 ng/mL (18-43). Osteolytic lesions, osteosclerosis and pseudo-osteopoikylosis, were present in 74%, 42% and 32% of patients, respectively. Lytic lesions were found predominantly in the extremities of long bones, bilaterally and symmetrically, spine was spared. Osteosclerosis was present in axial and appendicular skeleton. Pseudo-osteopoikilosis was found symmetrically in epiphyses of femur and humerus, in addition to the pelvis. BMD Z-score greater than +2.5 SD was observed in 13 patients (68.4%). BMD was higher in CGL1 compared to CGL2 in lumbar spine and total body in adults. No associations were found between high BMD and HOMA-IR (p=0.686), DM (p=0.750), osteosclerosis (p=0.127) or pseudo-osteopoikilosis (p=0.342), and, between pain and bone lesions. Fractures were found in 3 patients.
CONCLUSION
Bone manifestations are prevalent, heterogeneous, and silent in CGL1 and CGL2. Osteolytic lesions are the most common, followed by osteosclerosis and pseudo-osteopoikilosis. Bone mass is high in most cases. There was no pain complaint related to bone lesions. Thus, systematic assessment of bone manifestations in CGL is essential. Studies are needed to better understand its pathogenesis and clinical consequences.
Topics: Adult; Humans; Female; Young Adult; Male; Bone Density; Lipodystrophy, Congenital Generalized; Osteopoikilosis; Prevalence; Cross-Sectional Studies; Lumbar Vertebrae; Osteosclerosis; Bone Diseases
PubMed: 38633760
DOI: 10.3389/fendo.2024.1326700 -
Orphanet Journal of Rare Diseases Aug 2012Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs) in China. This study systematically... (Review)
Review
Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs) in China. This study systematically reviewed GSDs as defined in "Nosology and Classification of genetic skeletal disorders (2010 version)" using Chinese biomedical literature published over the past 34 years from 1978 to 2012. In total, 16,099 GSDs have been reported. The most frequently reported disorders were Marfan syndrome, osteogenesis imperfecta, fibrous dysplasia, mucopolysaccharidosis, multiple cartilaginous exostoses, neurofibromatosis type 1 (NF1), osteopetrosis, achondroplasia, enchondromatosis (Ollier), and osteopoikilosis, accounting for 76.5% (12,312 cases) of the total cases. Five groups (group 8, 12, 14, 18, 21) defined by "Nosology and Classification of genetic skeletal disorders" have not been reported in the Chinese biomedical literature. Gene mutation testing was performed in only a minor portion of the 16,099 cases of GSDs (187 cases, 1.16%). In total, 37 genes for 41 different GSDs were reported in Chinese biomedical literature, including 43 novel mutations. This review revealed a significant imbalance in rare disease identification in terms of geographic regions and hospital levels, suggesting the need to create a national multi-level network to meet the specific challenge of care for rare diseases in China.
Topics: Bone Diseases; China; Genetic Diseases, Inborn; Humans; Publishing
PubMed: 22913777
DOI: 10.1186/1750-1172-7-55 -
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 -
Anales de Pediatria Nov 2019
Topics: Adolescent; Humans; Male; Osteopoikilosis; Tomography, X-Ray Computed
PubMed: 30389430
DOI: 10.1016/j.anpedi.2018.10.003 -
Case Reports in Dermatological Medicine 2016Introduction. Buschke-Ollendorf syndrome (BOS) is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most...
Introduction. Buschke-Ollendorf syndrome (BOS) is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nevi. BOS is caused by mutations in the LEMD3 gene, which encodes the inner nuclear membrane protein Man1. We describe a unique case of osteopoikilosis associated with late-onset localized scleroderma and familial LEMD3 mutations. Case Report. A 72-year-old woman presented with adult-onset diffuse morphea and bullous skin lesions. Evaluation revealed multiple hyperostotic lesions (osteopoikilosis) suggestive of BOS. DNA sequencing identified a previously undescribed nonsense mutation (Trp621X) in the LEMD3 gene encoding Man1. Two additional family members were found to have osteopoikilosis and carry the same LEMD3 mutation. Conclusions and Relevance. We report a unique familial LEMD3 mutation in an individual with osteopoikilosis and late-onset morphea. We propose that this constellation represents a novel syndromic variant of BOS.
PubMed: 27382493
DOI: 10.1155/2016/2483041 -
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