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Buschke-Ollendorf syndrome in a patient with terminal renal failure
Joint Bone Spine 78 (2011) 418
Images in rheumatology
Buschke-Ollendorf syndrome in a patient with terminal renal failure Mathieu Verdet a,∗ , Odile Rivault b , Ute Zimmerman c , Vincent Goëb a a
Service de rhumatologie, CHU de Rouen, 147, avenue du Maréchal-Juin, 76230 Bois-Guillaume, France Service de néphrologie, CHU de Rouen, 147, avenue du Maréchal-Juin, 76230 Bois-Guillaume, France c Centre de pathologie cutanée de la Roquette, 56, rue de la Roquette, 75011 Paris, France b
dot-like lesions of osteosclerosis consistent with osteopoikilosis. The diagnosis was Buschke-Ollendorf syndrome, an inherited disease caused by a loss-of-function mutation in the LEMD3 gene [1]. This gene encodes the MAN1 protein, which inhibits the bone morphogenetic protein pathway and the TGF1 signaling pathway [2]. Both pathways are also involved in other bone dysplasias (sclerosteosis, Van Buchem disease, and Camurati-Engelmann syndrome [1]). Disclosure of interest The authors declare that they have no conflicts of interest concerning this article. References
Fig. 1. Buschke-Ollendorf Syndrome (subcutaneous sclerotic plaques, biopsy).
[1] Hellemans J, Preobrazhenska O, Willaert A, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis. Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004;36:1213–8. [2] Lin F, Morrison JM, Wu W, et al. MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling. Hum Mol Genet 2005;14:437–45.
Subcutaneous sclerotic plaques were noted in a 41-year-old woman undergoing evaluation in view of renal transplantation (Fig. 1). The biopsy findings suggested a connective tissue hamartoma. Radiographs taken to evaluate arthralgia showed small
∗ Corresponding author. Tel.: +33 232 888 990. E-mail address: [email protected] (M. Verdet). 1297-319X/$ – see front matter © 2011 Société franc¸aise de rhumatologie. Published by Elsevier Masson SAS. All rights reserved. doi:10.1016/j.jbspin.2011.05.013
Images in rheumatology
Buschke-Ollendorf syndrome in a patient with terminal renal failure Mathieu Verdet a,∗ , Odile Rivault b , Ute Zimmerman c , Vincent Goëb a a
Service de rhumatologie, CHU de Rouen, 147, avenue du Maréchal-Juin, 76230 Bois-Guillaume, France Service de néphrologie, CHU de Rouen, 147, avenue du Maréchal-Juin, 76230 Bois-Guillaume, France c Centre de pathologie cutanée de la Roquette, 56, rue de la Roquette, 75011 Paris, France b
dot-like lesions of osteosclerosis consistent with osteopoikilosis. The diagnosis was Buschke-Ollendorf syndrome, an inherited disease caused by a loss-of-function mutation in the LEMD3 gene [1]. This gene encodes the MAN1 protein, which inhibits the bone morphogenetic protein pathway and the TGF1 signaling pathway [2]. Both pathways are also involved in other bone dysplasias (sclerosteosis, Van Buchem disease, and Camurati-Engelmann syndrome [1]). Disclosure of interest The authors declare that they have no conflicts of interest concerning this article. References
Fig. 1. Buschke-Ollendorf Syndrome (subcutaneous sclerotic plaques, biopsy).
[1] Hellemans J, Preobrazhenska O, Willaert A, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis. Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004;36:1213–8. [2] Lin F, Morrison JM, Wu W, et al. MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling. Hum Mol Genet 2005;14:437–45.
Subcutaneous sclerotic plaques were noted in a 41-year-old woman undergoing evaluation in view of renal transplantation (Fig. 1). The biopsy findings suggested a connective tissue hamartoma. Radiographs taken to evaluate arthralgia showed small
∗ Corresponding author. Tel.: +33 232 888 990. E-mail address: [email protected] (M. Verdet). 1297-319X/$ – see front matter © 2011 Société franc¸aise de rhumatologie. Published by Elsevier Masson SAS. All rights reserved. doi:10.1016/j.jbspin.2011.05.013