Osteopoikilosis

An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metaphyseal area, are accompanied by unique cutaneous lesions. These are yellowish papules or plaques with increased elastin content. (From Cecil Textbook of Medicine, 19th ed, pp1434-35)

Also Known As:

Networked: 21 relevant articles (2 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Melorheostosis
2.	Neoplasm Metastasis (Metastasis)
3.	Stomach Neoplasms (Stomach Cancer)
4.	Buschke-Ollendorff syndrome
5.	Ankylosing Spondylitis

Experts

1.	Chang, Yao-Yuan: 1 article (04/2021)
2.	Lin, Wei-Hsin: 1 article (04/2021)
3.	Chan, Marian: 1 article (01/2019)
4.	Wordsworth, Paul: 1 article (01/2019)
5.	Akalın, Tayfun: 1 article (02/2018)
6.	Erdoğan, Murat: 1 article (02/2018)
7.	Erdoğan, Zeynep: 1 article (02/2018)
8.	Gençer, Hümeyra: 1 article (02/2018)
9.	Karaçavuş, Seyhan: 1 article (02/2018)
10.	Silov, Güler: 1 article (02/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Osteopoikilosis:

1.	diphosphoric acid (pyrophosphoric acid)IBA 05/01/1978 - "Technetium-99m pyrophosphate bone images should prove helpful when superimposed osseous disease must be differentiated from osteopoikilosis, osteopathia striata, or melorheostosis." 05/01/1978 - "Technetium-99m pyrophosphate bone images were contrasted with radiographic findings in two patients with osteopoikilosis, one with osteopathia striata, and one with melorheostosis. " 04/15/1984 - "Since she was asymptomatic, had no elevation of alkaline phosphatase, and the lesions did not take up technetium pyrophosphate on bone scan, she was thought to have osteopoikilosis. "
2.	Fluorodeoxyglucose F18 (Fludeoxyglucose F 18)FDA Link 05/01/2017 - "Gastric cancer bone metastases together with osteopoikilosis diagnosed using bone scintigraphy and 18F-FDG PET/CT." 05/01/2017 - "These lesions were evaluated with 99mTC-HDP bone scintigraphy and 18F-FDG PET/CT, which helped to obtain the definitive pathological diagnosis of osteopoikilosis (OP) co-existing with gastric cancer bone metastases. "
3.	technetium 99m hydroxyethylene-diphosphonateIBA 05/01/2017 - "These lesions were evaluated with 99mTC-HDP bone scintigraphy and 18F-FDG PET/CT, which helped to obtain the definitive pathological diagnosis of osteopoikilosis (OP) co-existing with gastric cancer bone metastases. "
4.	Proteins (Proteins, Gene)FDA Link 06/01/2016 - "Recent studies have reported loss-of-function mutations in the LEM domain containing 3 (LEMD3) gene, encoding an inner nuclear membrane protein, as a cause of osteopoikilosis. " 01/01/2017 - "LEM domain-containing protein 3 (LEMD3) gene mutations have been demonstrated in several familial cases, but these have been more strongly correlated with other hereditary dysplasias, such as osteopoikilosis, and are not thought to be the causative gene for melorheostosis. " 08/01/2007 - "Recent studies have reported loss of function mutations in the LEMD3 gene, encoding an inner nuclear membrane protein that influences Smad signaling, as a cause of osteopoikilosis, Buschke-Ollendorff syndrome, and melorheostosis. " 01/01/2019 - "It occasionally occurs on a background of another benign generalised sclerosing bone condition, known as osteopoikilosis caused by germline mutations in LEMD3, encoding the inner nuclear membrane protein MAN1, which modulates TGFβ/bone morphogenetic protein signalling. " 06/07/2016 - "The genetic testing on DNA extracted from peripheral blood leucocytes confirmed a heterozygous loss of function mutation in the LEM domain-containing protein 3 (LEMD3) gene coding for the inner nuclear membrane protein MAN1, which causes osteopoikilosis by antagonizing transforming growth factor β (TGF-β) and bone morphogenetic protein (BMP) signalling. "
5.	Technetium Tc 99m MedronateIBA 02/01/2018 - "Tc-99m MDP Bone SPECT/CT Findings of a Patient Detected with a New Mutation in LEMD3 Gene: A Case of Osteopoikilosis." 06/01/2016 - "Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECT/CT: A case report and literature review." 01/01/1994 - "Tc-99m MDP uptake in osteopoikilosis."
6.	Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA 01/01/2019 - "It occasionally occurs on a background of another benign generalised sclerosing bone condition, known as osteopoikilosis caused by germline mutations in LEMD3, encoding the inner nuclear membrane protein MAN1, which modulates TGFβ/bone morphogenetic protein signalling. " 06/07/2016 - "The genetic testing on DNA extracted from peripheral blood leucocytes confirmed a heterozygous loss of function mutation in the LEM domain-containing protein 3 (LEMD3) gene coding for the inner nuclear membrane protein MAN1, which causes osteopoikilosis by antagonizing transforming growth factor β (TGF-β) and bone morphogenetic protein (BMP) signalling. "
7.	Complementary DNA (cDNA)IBA 07/09/2010 - "Another new substitution G > A was found in EXT1 gene at position 1732 (cDNA) in Exon 9 (p.A578T) in three out of five osteopoikilosis affected family members. "
8.	Technetium Tc 99m PyrophosphateIBA 05/01/1978 - "99mTc-pyrophosphate bone imaging in osteopoikilosis, osteopathia striata, and melorheostosis."
9.	Transforming Growth Factor beta (TGF-beta)IBA 03/01/2010 - "Camurati-Engelman disease and osteopoikilosis are both related transforming growth factor-beta signaling. "
10.	Transforming Growth Factors (Transforming Growth Factor)IBA 06/07/2016 - "The genetic testing on DNA extracted from peripheral blood leucocytes confirmed a heterozygous loss of function mutation in the LEM domain-containing protein 3 (LEMD3) gene coding for the inner nuclear membrane protein MAN1, which causes osteopoikilosis by antagonizing transforming growth factor β (TGF-β) and bone morphogenetic protein (BMP) signalling. "

Therapies and Procedures

1.	Hip Replacement Arthroplasty (Total Hip Replacement) 04/22/2021 - "Result of cementless total hip arthroplasty in a patient with osteopoikilosis, hip dysplasia and advanced osteoarthritis: a case report."
2.	Surgical Decompression 06/01/1982 - "This case, presenting with unusual aspects of osteopoikilosis, emphasizes the importance of early diagnosis and surgical decompression of the stenosed spinal canal."
3.	Arthroplasty 04/22/2021 - "Cementless arthroplasty can be considered in patients with hip arthropathies and co-existing osteopoikilosis. "