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Rheumatology (Oxford, England) Feb 2022
Topics: Aged, 80 and over; Femur Head; Hand Bones; Humans; Humeral Head; Male; Osteopoikilosis; Radiography; Tomography, X-Ray Computed
PubMed: 33989397
DOI: 10.1093/rheumatology/keab436 -
Postgraduate Medical Journal Dec 2019
Topics: Acetabulum; Adult; Calcinosis; Diagnosis, Differential; Femur Head; Humans; Male; Osteopoikilosis; Patient Care Management; Tomography, X-Ray Computed
PubMed: 31371461
DOI: 10.1136/postgradmedj-2019-136705 -
Der Radiologe Dec 2021Diagnosis of sclerosing and hyperostotic bone disorders (SHS) is challenging. The correct and early identification of SHS can have therapeutic, prognostic and, in case... (Review)
Review
CLINICAL/METHODICAL ISSUE
Diagnosis of sclerosing and hyperostotic bone disorders (SHS) is challenging. The correct and early identification of SHS can have therapeutic, prognostic and, in case of genetic SHS with regard to the risk of inheritance, advisory consequences.
STANDARD RADIOLOGICAL METHODS
For diagnosis, radiographic examinations and supplementary computed tomography (CT) and magnetic resonance imaging (MRI) are used. These are of indicative nature. Definitive diagnosis is usually made by genetic differentiation.
METHODICAL INNOVATIONS
In combination with the age of the affected person and the location of the osseous changes the characteristic image criteria are important. These are summarized in groups in this overview.
PRACTICAL RECOMMENDATIONS
Projection radiography in two planes is the imaging modality of choice. CT and MR can detect additional differential diagnostic criteria and should be indicated when needed.
Topics: Bone and Bones; Humans; Magnetic Resonance Imaging; Radiography; Tomography, X-Ray Computed
PubMed: 34735583
DOI: 10.1007/s00117-021-00930-3 -
Endocrine Practice : Official Journal... Aug 2020
Topics: Adult; Female; Humans; Osteopoikilosis; Surveys and Questionnaires
PubMed: 33471688
DOI: 10.4158/EP-2019-0578 -
Journal of Medical Case Reports Jul 2023Osteopoikilosis, also referred to as disseminated condensing osteopathy, spotted bone disease, or osteopecilia, is a rare bone disorder. The case presented here...
BACKGROUND
Osteopoikilosis, also referred to as disseminated condensing osteopathy, spotted bone disease, or osteopecilia, is a rare bone disorder. The case presented here showcases multiple disc lesions in the spine, extensive multifocal skin lesions, and positive test results for dermatomyositis and multifocal enthesopathy, accompanied by neurological symptoms. This manifestation represents a novel variant of the disease.
CASE PRESENTATION
Our patient is a 46-year-old mosque Kurdish servant presenting with complaints of pain in the right leg, lower back, right hand, and neck. Additionally, the patient has been experiencing redness in the right buttock and ipsilateral thigh, as well as gradually expanding and stiffening skin lesions on the left shin for the past 3 weeks. Painful neck movements and a positive Lasegue test were also observed in the right leg. The patient reports pain in the right buttock accompanied by a substantial erythematous area with induration measuring 8 × 15 cm, as well as an erythematous and maculopapular lesion measuring 6 × 18 cm on the left shin.
CONCLUSIONS
Our patient is a 46-year-old man presenting with complaints of skin lesions and pain in the lower back, pelvis, neck, and limbs. The X-ray reveals shoulder, pelvis, knee, and ankle involvement, while spinal involvement is observed in the neck and lumbar region. Furthermore, the bone scan indicates extensive enthesopathy in various regions, a unique manifestation not previously reported in similar cases.
Topics: Male; Humans; Middle Aged; Osteopoikilosis; Enthesopathy; Tomography, X-Ray Computed; Leg; Bone Diseases; Lumbosacral Region
PubMed: 37434212
DOI: 10.1186/s13256-023-04025-6 -
British Journal of Haematology Feb 2022Erdheim-Chester disease (ECD) is a rare histiocytic neoplasm with frequent multiorgan involvement. An accurate diagnosis of ECD requires the correlation of clinical...
Erdheim-Chester disease (ECD) is a rare histiocytic neoplasm with frequent multiorgan involvement. An accurate diagnosis of ECD requires the correlation of clinical features, histopathologic and radiologic findings. We describe a case series of patients with a referral diagnosis of ECD, whereby the diagnosis was changed to non-histiocytic diseases after comprehensive review at a tertiary care center. This accurate revision of the referral diagnosis of ECD enabled initiation of proper disease-directed therapy in a timely manner for these patients and avoided unnecessary exposure to systemic cytotoxic chemotherapy or targeted agents. Our study highlights the value of a multidisciplinary team of histiocytosis experts in confirming the diagnosis of ECD and also brings attention to other conditions to consider that can mimic ECD, including osteopoikilosis, tenosynovial giant cell tumour, IgG4-related disease, fibrous dysplasia and chronic recurrent multifocal osteomyelitis.
Topics: Adult; Aged; Erdheim-Chester Disease; Female; Humans; Male; Middle Aged
PubMed: 34799853
DOI: 10.1111/bjh.17949 -
Calcified Tissue International Aug 2019Melorheostosis (MEL) is an uncommon, sclerosing disease, characterised by hyperostosis of long bones, resembling the flowing of candle wax. The disease is sporadic and...
Melorheostosis (MEL) is an uncommon, sclerosing disease, characterised by hyperostosis of long bones, resembling the flowing of candle wax. The disease is sporadic and the pathogenesis is still poorly understood. Occasionally, the same family can include individuals with MEL and Osteopoikilosis (OPK), a disease characterised by multiple round foci of increased bone density. LEMD3 gene mutations are related to OPK and Buschke-Ollendorff Syndrome, a genetic condition in which an association between MEL, OPK and skin lesions is observed. In rare cases, LEMD3 mutations and recently mosaic MAP2K1 gene mutations have been correlated to MEL suggesting that somatic mosaicism could be causative of the disease. In this study, we described the clinical, radiological and molecular findings of 19 individuals with MEL and 8 with OPK and compared the results to the medical literature. The molecular analyses of this case series corroborate the available data in the medical literature, indicating that LEMD3 germline mutations are not a major cause of isolated MEL and reporting five further cases of OPK caused by LEMD3 germline mutations.
Topics: Adolescent; Adult; Child; DNA-Binding Proteins; Female; Femur; Germ-Line Mutation; Humans; Italy; MAP Kinase Kinase 1; Male; Melorheostosis; Membrane Proteins; Middle Aged; Osteopoikilosis; Point Mutation; Young Adult
PubMed: 31129707
DOI: 10.1007/s00223-019-00565-6 -
Medicina 2023
Topics: Humans; Osteopoikilosis; Incidental Findings; Radiography
PubMed: 38117729
DOI: No ID Found -
Annales de Dermatologie Et de... Jun 2022
Topics: Humans; Osteopoikilosis; Skin Diseases, Genetic
PubMed: 34511237
DOI: 10.1016/j.annder.2021.07.004 -
Medicina (Kaunas, Lithuania) Oct 2020Bone islands (BI; enostoses) may be solitary or occur in the setting of osteopoikilosis (multiple bone islands) and are sometimes associated with Gardner's Syndrome... (Review)
Review
Bone islands (BI; enostoses) may be solitary or occur in the setting of osteopoikilosis (multiple bone islands) and are sometimes associated with Gardner's Syndrome (osteopoikilosis and colonic polyposis). Characteristic features of bone islands are (1) absence of pain or local tenderness, (2) typical radio dense central appearance with peripheral radiating spicules (rose thorn), (3) Mean CT (computerized tomography) attenuation values above 885 Hounsfield units (HU) (4) absence of uptake on bone scan and (5) radiographic stability over time. However, when enostoses display atypical features of pain, unusual radiographic appearance, aberrant HU, increased radiotracer uptake, and/or enlargement, they can be difficult to differentiate from more sinister bony lesions such as osteoblastic metastasis, low grade central osteosarcoma, osteoid osteoma and osteoblastoma. In this retrospective case series, the demographic, clinical, radiographic, treatment and outcome for ten patients with eleven atypical bone islands (ABI) are presented, some showing associated pain (5), some with atypical radiographic appearance (3), some with increased activity on BS (4), some with documented enlargement over time (7), one with abnormal CT attenuation value, some in the setting of osteopoikilosis (2), one in the setting of Gardner's Syndrome and one osteoid osteoma simulating a bone island. This series represents the spectrum of presentations of ABI. Comprehensive review of the literature reveals that the previous largest series of ABI showing enlargement as the atypical feature was in younger patients with jaw BI. Hence, this represents one of the largest series reported of ABI of all types in adults.
Topics: Adult; Bone Diseases; Bone Neoplasms; Humans; Retrospective Studies; Tomography, X-Ray Computed
PubMed: 33065973
DOI: 10.3390/medicina56100534