Buschke–Ollendorff syndrome

The signs and symptoms of this condition are consistent with the following (possible complications include aortic stenosis and hearing loss): :::::::*Osteopoikilosis :::::::*Bone pain :::::::*Connective tissue nevi :::::::*Metaphysis abnormality ==Pathogenesis==

Buschke–Ollendorff syndrome is caused by one important factor: mutations in the LEMD3 gene. • LEMD3 (protein) referred also as MAN1, is an important protein in inner nuclear membrane. • LEMD3 gene gives instructions for producing protein that controls signaling for transforming growth factor-beta. • LEMD3 gene helps in the bone morphogenic protein pathway • Both of the above pathways help grow new bone cells • BMP and TGF-β pathways controls SMADs proteins, which then bind to DNA • LEMD3 once mutated, causes a reduction of the protein, which in turn causes excess of the above two pathways. ==Diagnosis==

The diagnosis of this condition can be ascertained via several techniques one such method is genetic testing, as well as: • Melorheostosis • Sclerotic bone metastases. ==Treatment==

In terms of the treatment of Buschke–Ollendorff syndrome, should the complication of aortic stenosis occur then surgery may be required. Treatment for hearing loss may also require surgical intervention. ==See also==