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: 58 relevant articles (0 outcomes, 5 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Melorheostosis
2.	Osteitis Deformans (Paget's Disease of Bone)
3.	Myositis Ossificans
4.	Nevus (Nevi)
5.	Developmental Bone Diseases (Bone Dysplasia)

Experts

1.	Hellemans, Jan: 3 articles (12/2009 - 11/2004)
2.	Whyte, Michael P: 2 articles (01/2010 - 02/2007)
3.	Mumm, Steven: 2 articles (01/2010 - 02/2007)
4.	De Paepe, Anne: 2 articles (03/2006 - 11/2004)
5.	Debeer, Philippe: 2 articles (03/2006 - 11/2004)
6.	Verdonk, Peter C M: 2 articles (03/2006 - 11/2004)
7.	Mortier, Geert R: 2 articles (03/2006 - 11/2004)
8.	Savarirayan, Ravi: 2 articles (03/2006 - 11/2004)
9.	Gutierrez, Daniel: 1 article (09/2015)
10.	Cohn, Heather I: 1 article (09/2015)

Drugs and Biologics

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

1.	Buschke-Ollendorff syndromeIBA 09/01/2012 - "Radiographic studies revealed osteopoikilosis, confirming the diagnosis of Buschke-Ollendorff syndrome. " 12/01/2009 - "We conclude that the heterozygous Lemd3 gene-trapped mouse is not a good model to study osteopoikilosis and the Buschke-Ollendorff syndrome." 08/01/1959 - "Osteopathia condensans disseminata (osteopoikilosis); study of a family of 4 generations." 12/01/2009 - "Osteopoikilosis and the Buschke-Ollendorff syndrome are skeletal dysplasias with hyperostotic lesions in the long bones. " 11/01/2008 - "Buschke-Ollendorff syndrome is a rare autosomal dominant disease featuring osteopoikilosis and skin lesions. "
2.	Leri pleonosteosisIBA 05/01/1956 - " Introduction; fibrodysplasia ossificans progressiva; osteopoikilosis; Leri's pleonosteosis; Paget's disease of bone; other possible hereditary and generalized disorders of connective tissue; the future in the study of heritable disorders of connective tissue; general summary and conclusions."
3.	Carbon MonoxideIBA 01/01/2010 - "The mutation co-segregates with the osteopoikilosis phenotype and was not found in 200 ethnically matched controls. " 08/01/2007 - "This mutation co-segregates with the osteopoikilosis phenotype in both the Azorean family and the Irish family. " 10/01/1999 - "It may co-exist with osteopoikilosis and osteopathia striata as well as with tumours or malformations of blood vessels or lymphatics. " 03/01/2006 - "To further explore the allelic heterogeneity within the group of LEMD3-related disorders, we have screened a larger series of patients including 5 probands with osteopoikilosis or Buschke-Ollendorff syndrome (BOS), 2 families with the co-occurrence of melorheostosis and BOS, and 12 unrelated patients with isolated melorheostosis. "
4.	Ribbing diseaseIBA 11/01/2011 - "Several genes have been discovered that, when disrupted, result in specific types of hereditary sclerosing bone dysplasia (osteopetrosis, pyknodysostosis, osteopoikilosis, osteopathia striata, progressive diaphyseal dysplasia, hereditary multiple diaphyseal sclerosis, hyperostosis corticalis generalisata), many of which exhibit similar pathologic mechanisms involving endochondral or intramembranous ossification and some of which share similar underlying genetic defects. " 01/01/1991 - "The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Schönberg disease), pycnodysostosis (Maroteaux-Lamy disease), enostosis (bone island), osteopoikilosis, osteopathia striata (Voorhoeve disease), progressive diaphyseal dysplasia (Camurati-Engelmann disease), hereditary multiple diaphyseal sclerosis (Ribbing disease), four types of endosteal hyperostosis (van Buchem disease, Worth disease, Nakamura disease, and Truswell-Hansen disease), dysosteosclerosis, metaphyseal dysplasia (Pyle's disease), craniometaphyseal dysplasia, melorheostosis (Leri disease), and craniodiaphyseal dysplasia. "
5.	Mixed sclerosing bone dystrophyIBA 06/01/1991 - "Mixed sclerosing bone dystrophy with features resembling osteopoikilosis and osteopathia striata." 06/01/1991 - "A 64-year old man, presenting pain in his back and left sciatalgia, was found to have a mixed sclerosing bone dystrophy with features resembling osteopoikilosis and osteopathia striata. " 03/01/1986 - "We present a detailed metabolic investigation and 42-year radiological follow-up of a 52-year-old man with mixed-sclerosing-bone-dystrophy, the rare occurrence of two or more distinct patterns of sclerosing-bone-dysplasia (e.g., osteopathia striata, osteopoikilosis, melorheostosis) in a single subject. "
6.	Complementary DNA (cDNA)IBA 01/01/2010 - "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. "
7.	Transforming Growth Factor beta (TGF-beta)IBA 03/01/2010 - "Camurati-Engelman disease and osteopoikilosis are both related transforming growth factor-beta signaling. "
8.	Technetium Tc 99m MedronateIBA 01/01/1994 - "Tc-99m MDP uptake in osteopoikilosis."
9.	Technetium (Technetium 99m)IBA 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. "
10.	PhosphorusIBA 08/01/1989 - "The authors present three cases with a past family history (mother suffered from osteopoikilosis and two sons with Buschke-Ollendorf syndrome) in whom we found alterations of phosphorus and calcium metabolism, this not having been previously reported in the literature." 08/01/1989 - "[Changes in phosphorus-calcium metabolism in osteopoikilosis (Buschke-Ollendorf syndrome)]."

Therapies and Procedures

1.	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."