These mutations can lead to a buildup of mature TGFB1, which accumulates in the mutant R218H fibroblasts. Fibroblasts are a type of cell that creates collagen and the extracellular matrix. This suggests that R218H mutation causes a disassociation between mature-TGFB1 and B1-LAP. Mutations at the LLL12-13ins and Y81H regions decrease the secretion of TGFB1, which leads to intracellular buildup of TGFB1.Type 2 Camurati-Engelmann Disease is still speculative, with no distinct evidence to credit its existence. There are many similarities between Type 2 CED and hyperostosis generalisata with striations of the bones (HGS), with some speculating they are two phenotypic variations of the same disease. Treatment
Camurati–Engelmann disease is somewhat treatable. Glucocorticosteroids, which are anti-inflammatory and immunosuppressive agents, are used in some cases. This form of medication helps in bone strength, however can have multiple side effects. In several reports, successful treatment with glucocoricosteroids was described, as certain side effects can benefit a person with CED. This drug helps with pain and fatigue as well as some correction of radiographic abnormalities.Alternative treatments such as massage, relaxation techniques (meditation, essential oils, spa baths, music therapy, etc. ), gentle stretching, and especially heat therapy have been successfully used to an extent in conjunction with pain medications. A majority of CED patients require some form of analgesics, muscle relaxant, and/or sleep inducing medication to manage the pain, specifically if experiencing frequent or severe flare-ups (e.g. during winter).
Camurati–Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. It is also known as progressive diaphyseal dysplasia. It is a form of dysplasia. Patients typically have heavily thickened bones, especially along the shafts of the long bones (called diaphyseal dysplasia). The skull bones may be thickened so that the passages through the skull that carry nerves and blood vessels become narrowed, possibly leading to sensory deficits, blindness, or deafness. This disease often appears in childhood and is considered to be inherited, however many patients have no previous history of CED within their family. The disease is slowly progressive and, while there is no cure, there is treatment. It is named for M. Camurati and G. Engelmann. Signs and symptoms
Patients with CED complain of chronic bone pain in the legs or arms, muscle weakness (myopathy) and experience a waddling gait. Other clinical problems associated with the disease include increased fatigue, weakness, muscle spasms, headache, difficulty gaining weight, and delay in puberty. Some patients have an abnormal or absent tibia, may present with a flat foot, or scoliosis.This disease may also cause bones to become abnormally hardened which is referred to as sclerosis. This hardening may affect the bones at the base of the skull or those in the hands, feet, or jaw. This causes ongoing pain and aching within the body parts that are affected.