Flare-ups may be attributed to, or exacerbated by growth spurts, stress, exhaustion, exercise, standing or walking for too long, illness, infection, being accidentally knocked/hurt or injured, after surgery/anaesthetics, cold weather, electrical storms, and sudden changes in barometric pressure.CED may also affect internal organs, the liver and spleen, which may become enlarged. A loss of vision and/or hearing can occur if bones are adversely affected by the hardening in the skull. Hence proactive specialist check-ups, X-rays, diagnostic tests/scans, and regular blood tests are recommended on an annual basis to monitor the CED bony growth and secondary medical issues that may arise from this condition. Cause
Camurati-Engelmann disease is caused by autosomal dominant mutations in the gene TGFB1, localized at chromosome 19q13. Diagnosis
Classification
There are two forms:

Type 1 is associated with TGFB1
Type 2 is not associated with TGFB1Type 1 Camurati-Engelmann Disease is associated with an error occurring in the TGFB1 protein. Affected individuals shared a haplotype between D19S881 to D19S606. TGFB1 protein is encoded by the TGF-B1 gene, which occurs on chromosome 19q13.1-13.3. This protein is responsible for a multitude of functions, one of which includes regulating the function of osteoblasts and osteoclasts, which decreases bone resorption and increases bone formation. These functions can be affected by a series of mutations that occur on exon 4, near the carboxyl terminus of the latency associated peptide, or LAP. TGFB1 is expressed as a latent form, a mature form and a B1-LAP. Mutations to R218H affect the association of the B1-LAP and the mature form of TGFB1 by conformational changes to B1-LAP.
Notable persons
John Belluso, writer for the CBS television show Ghost Whisperer, used a wheel chair from the age of 13 because of the Camurati–Engelmann syndrome. He died on February 10, 2006, at the age of 36 in New York City. References
Further reading
Camurati-Engelmann disease on Genetic Home Reference
GeneReviews/NCBI/NIH/UW entry on Camurati-Engelmann Disease
Wallace, Stephanie E.; Wilcox, William R. (1 January 1993). Camurati-Engelmann Disease. GeneReviews. University of Washington, Seattle. PMID 20301335. == External links ==