Camurati-engelmann disease: Unique variant featuring a novel mutation in <i>TGFβ1</i> encoding transforming growth factor beta 1 and a missense change in <i>TNFSF11</i> encoding RANK ligand

Abstract excerpt

We report a 32-year-old man and his 59-year-old mother with a unique and extensive variant of Camurati-Engelmann disease (CED) featuring histopathological changes of osteomalacia and alterations within TGFβ1 and TNFSF11 encoding TGFβ1 and RANKL, respectively. He suffered leg pain and weakness since childhood and reportedly grew until his late 20s, reaching 7 feet in height. He had deafness, perforated nasal...

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• Dermatological and Skeletal Disorders
• Heterotopic Ossification and Related Conditions
• Hypertrophic osteoarthropathy and related conditions