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Precision medicine in osteoporosis and bone diseases
Published in Debmalya Barh, Precision Medicine in Cancers and Non-Communicable Diseases, 2018
Fatmanur Hacievliyagil Kazanci, Fatih Kazanci, M. Ramazan Yigitoglu, Mehmet Gunduz
Camurati–Engelmann disease is a rare disorder characterized by increased bone turnover. Function mutations in transforming growth factor, beta 1 (TGFb1) have been identified as the genetic cause of the disease (Kinoshita et al., 2000).
Case 45
Published in Simon Lloyd, Manohar Bance, Jayesh Doshi, ENT Medicine and Surgery, 2018
Simon Lloyd, Manohar Bance, Jayesh Doshi
Diffuse involvement of the temporal bone can occur in various diseases including fibrous dysplasia, osteogenesis imperfecta, otosclerosis, osteopetrosis, osteoblastic metastatic lesions from the prostate, otosyphilis and Camurati–Engelmann disease (progressive diaphyseal dysplasia). Rarely do these disorders actually result in an increase in apparent volume of bone but rather demineralisation and remodelling of bone. Fibrous dysplasia can show a typical ‘ground glass’ CT appearance. CT scans shown are of fibrous dysplasia and osteogenesis imperfecta of the temporal bone.
Inflammatory bowel diseases and primary immunodeficiency diseases
Published in Immunological Medicine, 2018
Transforming growth factor (TGF)-β1 (encoded by TGFB1) is the prototypic member of the TGF-β family, which comprises proteins that have been widely associated with embryogenesis, development, and tissue homeostasis [42]. Dysfunctional TGF-β1 signaling is implicated in several human diseases, including cancer, cardiovascular disease, fibrosis, atherosclerosis, and various developmental disorders. In contrast, heterozygous gain-of-function mutations in TGFB1 cause Camurati-Engelmann disease, which is characterized by osteosclerotic lesions in long bones and the skull [43]. Biallelic loss-of-function mutations in TGFB1 were also identified in patients with severe IBD and central nervous system (CNS) diseases such as epilepsy, brain atrophy, and posterior leukoencephalopathy [44]. This study shows that TGF-β1 plays critical roles in the development and homeostasis of intestinal immunity and the CNS.
Efficacy of denosumab therapy after alendronate treatment for a 66-year-old woman with Camurati–Engelmann disease and osteoporosis: a case report
Published in Modern Rheumatology Case Reports, 2020
Masashi Uehara, Yukio Nakamura, Takako Suzuki, Jun Takahashi, Hiroyuki Kato
With an incidence of 1 in 1,000,000 individuals, Camurati–Engelmann disease (CED) is a rare disorder characterized by hyperostois of multiple long bones [1]. Mutations in the transforming growth factor beta 1 gene have been implicated in this phenotype [2]. Limb bone pain is common in CED [3]. Several reports have described the treatment of osteoporosis in CED [4–7]; however, it remains controversial whether such therapy is suitable for osteoporotic CED patients, especially after bisphosphonate (BP) administration.