A Mutation Affecting the Latency-Associated Peptide of TGFβ1 in Camurati-Engelmann Disease Enhances Osteoclast Formationin Vitro

[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: In Reply

Alisher J. Yuldashev, Chang Ho Shin, Yong Sung Kim, Woo Young Jang, Moon Seok Park, Jong Hee Chae, Won Joon Yoo, In Ho Choi, Ok Hwa Kim, Tae-Joon Cho, Reply: We thank Dr. Viana and colleagues for the interest in our study. It was interesting to know about four Brazilian patients with Camurati-Engelmann disease (CED). Making a timely and correct diagnosis is still important to avoid unnecessary ...

Regarding Camurati-Engelmann Disease: To the Editor

Menière-like syndrome in Camurati-Engelmann disease.

This 42 year old woman had a history of delayed motor development, chronic muscle fatigue and gait disturbance. Her mother and mother’s brother suffered from similar symptoms. At the age of 20 she was diagnosed with Camurati-Engelmann syndrome. At that time she started to suffer from fluctuating tinnitus in the right ear and attacks of rotational vertigo lasting hours. The vertigo was accompani...

Angioid streaks in a case of Camurati–Engelmann disease

Camurati-Engelmann disease (CED) is a rare autosomal dominant disease with various phenotypic expressions. The hallmark of the disease is bilateral symmetric diaphyseal hyperostosis of the long bones with progressive involvement of the metaphysis. Ocular manifestations occur rarely and mainly result from bony overgrowth of the orbit and optic canal stenosis. We report a case of CED showing angi...