Buschke-Ollendorff Syndrome

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Yang, C. Buschke-Ollendorff Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5043 (accessed on 21 September 2026).

Yang C. Buschke-Ollendorff Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5043. Accessed September 21, 2026.

Yang, Catherine. "Buschke-Ollendorff Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5043 (accessed September 21, 2026).

Yang, C. (2020, December 24). Buschke-Ollendorff Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5043

Yang, Catherine. "Buschke-Ollendorff Syndrome." Encyclopedia. Web. 24 December, 2020.

Buschke-Ollendorff Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/buschke-ollendorff-syndrome

Buschke-Ollendorff syndrome is a hereditary disorder that primarily affects the skin and bones. Specifically, the condition is characterized by skin growths called connective tissue nevi and bone abnormalities, most commonly a pattern of increased bone density called osteopoikilosis. Buschke-Ollendorff syndrome is classified as a disorder of connective tissues, which provide support, strength, and flexibility to organs and tissues throughout the body.

genetic conditions

References

Burger B, Hershkovitz D, Indelman M, Kovac M, Galambos J, Haeusermann P,Sprecher E, Itin PH. Buschke-Ollendorff syndrome in a three-generation family:influence of a novel LEMD3 mutation to tropoelastin expression. Eur J Dermatol.2010 Nov-Dec;20(6):693-7. doi: 10.1684/ejd.2010.1051.
Couto AR, Bruges-Armas J, Peach CA, Chapman K, Brown MA, Wordsworth BP, Zhang Y. A novel LEMD3 mutation common to patients with osteopoikilosis with andwithout melorheostosis. Calcif Tissue Int. 2007 Aug;81(2):81-4.
Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T,Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W,Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR. Loss-of-function mutations in LEMD3result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. NatGenet. 2004 Nov;36(11):1213-8.
Mumm S, Wenkert D, Zhang X, McAlister WH, Mier RJ, Whyte MP. Deactivatinggermline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorffsyndrome, but not sporadic melorheostosis. J Bone Miner Res. 2007Feb;22(2):243-50.
Pope V, Dupuis L, Kannu P, Mendoza-Londono R, Sajic D, So J, Yoon G,Lara-Corrales I. Buschke-Ollendorff syndrome: a novel case series and systematic review. Br J Dermatol. 2016 Apr;174(4):723-9. doi: 10.1111/bjd.14366.
Zhang Y, Castori M, Ferranti G, Paradisi M, Wordsworth BP. Novel and recurrentgermline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis. Clin Genet. 2009 Jun;75(6):556-61. doi:10.1111/j.1399-0004.2009.01177.x.Apr;79(4):401.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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