Osteopoikilosis – Spotted bone disease

Negi, R. S.; Manchanda, K.L.; Sanga, Sunil; Chand, Sunit; Goswami, Gaurav

doi:10.1016/j.mjafi.2012.05.009

Cited by 24 publications

(19 citation statements)

References 5 publications

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“…It is usually inherited autosomal dominantly, but sporadic forms have also been reported. 8 Characteristic lesions of OPK are multiple, punctate, sclerotic, round-or oval-shaped, distributed in a predominantly periarticular fashion within the epiphyseal and metaphyseal regions throughout the axial and appendicular skeleton. 1 The lesions are usually 1-10 mm in diameter and symmetric, but unilateral lesions up to 16 mm have been reported.…”

Section: Discussionmentioning

confidence: 99%

A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis

et al. 2019

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Elmaoğulları S, Yıldız AE, Demir S, Gürkan H, Uçaktürk SA. A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis. Turk J Pediatr 2019; 61: 594-598.Osteopoikilosis (OPK) is a rare, benign condition characterized by osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrists, feet, ankles, pelvis, and scapulae. We report a 16-year-old boy and his mother incidentally found to have sclerotic lesions on X-ray. Both of them were asymptomatic and the bone scan of the boy ruled out osteoblastic metastases. We have shown that the boy and his mother have a previously unknown pathogenic variant of the LEMD3 gene, supporting the diagnosis of osteopoikilosis.

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Section: Discussionmentioning

confidence: 99%

A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis

et al. 2019

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“…OPK has occasionally been reported in association with dermatofibrosis lenticularis disseminata, a predisposition to keloid formation, scleroderma-like lesion, plantar and palmar keratomas, rheumatoid arthritis, lupus erythematosus, ankylosing spondylitis, familial Mediterranean fever, synovial chondromatosis, exostoses, melorheostosis, osteitis condensans, Klippel-Feil syndrome, chondrosarcoma, osteosarcoma, giant cell tumor, dwarfism, dystocia, premyelopathic syndrome due to spinal stenosis, coarctation of aorta, double ureter, dacryocystitis, endocrine dysfunction, and dental and facial abnormalities. Association with connective tissue nevi called dermatofibrosis lenticularis disseminata (DLD) was found in nearly 25% of cases and overlapping of OPK and DLD was defined as Buschke-Ollendorff syndrome [ 4 – 6 , 9 ].…”

Section: Discussionmentioning

confidence: 99%

“…It is a hereditary disease, autosomal dominant, and all affected individuals carry a LEMD3 gene mutation [ 4 – 8 ]. OPK is benign, usually asymptomatic, and is discovered incidentally on radiographs but some cases described in the literature report an association with pain and joint effusions (15–20%), skin manifestations, bone or rheumatic diseases, organ anomalies, and endocrine dysfunctions [ 4 – 6 , 9 ]. More extensive radiological investigations make the diagnosis, by showing multiple sclerotic lesions symmetrical with a predilection for epiphyseal and metaphyseal regions of long bones [ 2 , 4 , 10 ].…”

Section: Introductionmentioning

confidence: 99%

Traumatic Fracture in a Patient with Osteopoikilosis

Mortier

Docquier

2014

Case Reports in Orthopedics

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We report a case of traumatic humeral neck fracture occurring in a patient with osteopoikilosis after a motorcycle accident. The radiograph revealed the fracture but also multiple bone lesions. A few years before, the patient had been operated for a maldiagnosed chondrosarcoma of the humeral head. Osteopoikilosis is a rare benign hereditary bone disease, whose mode of inheritance is autosomal dominant. It is usually asymptomatic and discovered incidentally on radiograph that shows the presence of multiple osteoblastic lesions. It can mimic other bone pathologies, in particular osteoblastic metastases. Osteopoikilosis is a diagnosis that should be kept in mind to avoid misdiagnosis, particularly with regard to cancer metastasis. This disorder does not require any treatment and complications are rare. However, there may be associated anomalies that require follow-up.

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“…It is usually incidentally found on radiographs or CT [ Figure 3]; normal scintigraphic uptake on MDP bone scan strengthens the diagnosis by excluding bone metastasis. [17,18] Although OPK is largely asymptomatic, 15-20% of patients present with slight articular pain and joint effusion. [19] No definite pathogenesis is defined.…”

Section: Osteopoikilosismentioning

confidence: 99%

Castleman Disease: A Great Mimicker of Metastases in Radioiodine Refractory Thyroid Cancer

Rashid

Hassan

Akhter

et al. 2018

J Cancer Allied Spec

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A 27-year-old male underwent total thyroidectomy for thyroid swelling. Histopathology showed papillary thyroid carcinoma [T3 - 6.0 cm] with extra-thyroidal extension. The patient was treated with 150 mCi radioactive iodine(RAI) as adjuvant ablative therapy. Radioiodine refractory disease was identified 1-year post-RAI therapy with elevated thyroglobulin levels and negative I-131 whole body scan. F-18 FDG positron emission tomography/computedtomography scan showed activity in the right thyroid bed and multilevel right cervical nodes. Right-sided modified neck dissection was done, which showed Castleman disease (hyaline vascular type) in right cervical nodes. The most probable cause of elevated tumour markers was found out to be 0.6 cm right thyroid bed nodule on follow-up ultrasonography. Our patient also had coexistent conditions as; osteopoikilosis and Hepatitis C along with thyroid carcinoma.Key words: Castleman disease, lymph node, radioiodine, thyroid cancer

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Osteopoikilosis – Spotted bone disease

Cited by 24 publications

References 5 publications

A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis

A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis

Traumatic Fracture in a Patient with Osteopoikilosis

Castleman Disease: A Great Mimicker of Metastases in Radioiodine Refractory Thyroid Cancer

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