Camurati-Engelmann Disease OMIM

Description: CAMURATI-ENGELMANN DISEASE Alternative titles; CED ENGELMANN DISEASE DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1 PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD Gene map locus 19q13.1 Camurati-Engelmann disease results from domain-specific mutations in the transforming growth factor-beta-1 gene (TGFB1; 190180). Also see Camurati-Engelmann disease type II (606631) in which no mutation in the TGFB1 gene has been found. CLINICAL FEATURES Camurati (1922) of Bologna described a rare type of 'symmetrical hereditary osteitis' involving the lower limbs in a father and son and several others in a total of 4 generations. Pain in the legs and fusiform swelling of the legs below the knees were noted. Engelmann (1929) of Vienna reported an isolated case of 'osteopathica hyperostotica (sclerotisans) multiplex infantilis.' The disorder is sometimes called Camurati-Engelmann disease (CED) in recognition of the earlier description. Cockayne (1920) described a probable case before the publications of Camurati and Engelmann. The nature of the condition and the possibility that it represented syphilitic osteitis were discussed.