Camurati–Engelmann Disease: A Case-Based Review About an Ultrarare Bone Dysplasia

Abstract

Camurati–Engelmann disease or progressive diaphyseal dysplasia is a rare hereditary disease that results in a symmetrical hyperostosis of the long bones (cortical thickening) and/or the base of the skull. Camurati–Engelmann disease is also associated with myopathy and neurological manifestations. Clinically, Camurati–Engelmann disease typically presents with bone pain in the lower extremities, muscle weakness, and a wobbly, stilted gait. The disease is caused by mutations in the transforming growth factor-beta 1 gene. Up to date, about 300 cases have been described in the literature. In this case-based review, we present the clinical picture and genetic and radiological findings in a 20-year-old male patient we diagnosed with Camurati–Engelmann disease and our considerations in his treatment and compare the case to the literature. The diagnosis of Camurati–Engelmann disease was confirmed on patients’ history, clinical and radiological findings, and genetic testing for transforming growth factor beta-1 mutation. The patient responded well to single therapy with zoledronic acid. Early diagnosis leads to improved clinical outcomes and increased quality of life in affected patients.

Hereditary human diseases with skeletal pathology – molecular pathogenesis and clinical characteristics

“…Прогрессирующая диафизарная дисплазия (болезнь Камурати -Энгельмана) -редкое генетическое заболевание скелета, характеризующееся гиперостозом Ревматология (патологическим увеличением неизмененной костной ткани) длинных трубчатых костей. На сегодняшний день в литературе описано более 300 случаев во всем мире [64]. Дефект гена TGFB1 приводит к нарушению синтеза белка трансформирующего фактора роста бета-1 (TGF-β-1), который отвечает за рост и пролиферацию клеток.…”