Buschke-Ollendorff syndrome

Definition:

Buschke-Ollendorff syndrome (BOS), also known as Osteopoikilosis, is a disorders characterized by increased bone density. Loss-of-function mutations in LEMD3, which encodes an inner nuclear membrane protein can result in these conditions. LEMD3 is thought to be involved in Smad signaling.

References:

[1]. Donatella Schena, et al. Buschke-Ollendorff syndrome. Int J Dermatol. 2008 Nov;47(11):1159-61. [Content Brief]

[2]. Hasna Hassikou, et al. Buschke-Ollendorff syndrome. Joint Bone Spine. 2008 Mar;75(2):212-4. [Content Brief]

[3]. Jan Hellemans, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet. 2004 Nov;36(11):1213-8. [Content Brief]

[4]. Vijay Kumar Jain, et al. Melorheostosis: clinicopathological features, diagnosis, and management. Orthopedics. 2009 Jul;32(7):512. [Content Brief]

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