Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature.

Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature.

Skull base manifestations of Camurati-Engelmann disease.

OBJECTIVE To describe presenting symptoms, evaluation findings, and surgical management of cranial base hyperostosis in patients with Camurati-Engelmann disease (CED). DESIGN Retrospective study and literature review. SETTING The Mayo Clinic, Rochester, Minnesota. PATIENTS A total of 306 patients diagnosed as having CED, including 12 primarily evaluated at our institution between 1968 and...

Orthopedic Manifestations of Type I Camurati-Engelmann Disease

BACKGROUND Camurati-Engelmann disease (CED) is a rare genetic skeletal disorder characterized by limb pain, muscle emaciation and weakness, and cortical thickening of the diaphysis of long bones. It is caused by mutations in the transforming growth factor beta 1 (TGFB1) (type I) or other unknown gene(s) (type II). We present 8 consecutive patients with type I CED. METHODS We retrospectively r...

[Camurati-Engelmann disease].

1Senior Registrar, Endocrinology, 2Consultant Endocrinologist, 3Consultant Radiologist, 4Senior Registrar, Orthopedic, 5Consultant Orthopedic Surgeon, 6Consultant Histo Pathologist, National Hospital of Sri Lanka. Figure 1. Xray skull – lateral. Figure 2. Histology of the bone biopsy shows mature thick cortical lamellar bone with regular prominent cement lines (thick arrow) with prominent osteo...

Regarding Camurati-Engelmann Disease: To the Editor