A family with Camurati-Engelman disease: The role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands

Objectives: Camurati-Engelmann disease (CED) is a rare form of progressive diaphyseal dysplasia as a result of mutations in the transforming growth factor gene TGFbeta1 on chromosome 19q13.1-q13.3. Endocrine complications such as osteoporosis, vitamin D deficiency, delayed puberty, and hypogonadotrophic hypogonadism may be present. Methods: Genetic analysis of the TGFbeta1 gene revealed a heterozygous missense mutation p.R218C in exon 4 of chromosome 19q13.1-q13.3 in a 14-year-old girl who presented with typical symptoms of CED, hyperprolactinaemia, and menstrual irregularity. Results: The patient responded well to prednisone 5 mg/kg/day, as well as calcium and vitamin D supplements. Conclusions: The role of p.R218C in TGFbeta1 on the mechanism of the disease, and the complications of it in bones and endocrine glands, remains unclear. Early recognition as well as a detailed understanding of the pathogenesis of the disease are important for future treatment options and a better quality of life of such patients.