Camurati-Engelmann disease ICD-10 | Q78.3 ICD-9 | 756.59 OMIM | 131300 606631 DiseasesDB | 4301 MeSH | D003966 WikiDoc Resources for Camurati-Engelmann disease Articles Most recent articles on Camurati-Engelmann disease Most cited articles on Camurati-Engelmann disease Review articles on Camurati-Engelmann disease Articles on Camurati-Engelmann disease in N Eng J Med, Lancet, BMJ Media Powerpoint slides on Camurati-Engelmann disease Images of Camurati-Engelmann disease Photos of Camurati-Engelmann disease Podcasts & MP3s on Camurati-Engelmann disease Videos on Camurati-Engelmann disease Evidence Based Medicine Cochrane Collaboration on Camurati-Engelmann disease Bandolier on Camurati-Engelmann disease TRIP on Camurati-Engelmann disease Clinical Trials Ongoing Trials on Camurati-Engelmann disease at Clinical Trials.gov Trial results on Camurati-Engelmann disease Clinical Trials on Camurati-Engelmann disease at Google Guidelines / Policies / Govt US National Guidelines Clearinghouse on Camurati-Engelmann disease NICE Guidance on Camurati-Engelmann disease NHS PRODIGY Guidance FDA on Camurati-Engelmann disease CDC on Camurati-Engelmann disease Books Books on Camurati-Engelmann disease News Camurati-Engelmann disease in the news Be alerted to news on Camurati-Engelmann disease News trends on Camurati-Engelmann disease Commentary Blogs on Camurati-Engelmann disease Definitions Definitions of Camurati-Engelmann disease Patient Resources / Community Patient resources on Camurati-Engelmann disease Discussion groups on Camurati-Engelmann disease Patient Handouts on Camurati-Engelmann disease Directions to Hospitals Treating Camurati-Engelmann disease Risk calculators and risk factors for Camurati-Engelmann disease Healthcare Provider Resources Symptoms of Camurati-Engelmann disease Causes & Risk Factors for Camurati-Engelmann disease Diagnostic studies for Camurati-Engelmann disease Treatment of Camurati-Engelmann disease Continuing Medical Education (CME) CME Programs on Camurati-Engelmann disease International Camurati-Engelmann disease en Espanol Camurati-Engelmann disease en Francais Business Camurati-Engelmann disease in the Marketplace Patents on Camurati-Engelmann disease Experimental / Informatics List of terms related to Camurati-Engelmann disease Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ## Contents * 1 Overview * 2 Eponym * 3 Classification * 4 Naming * 5 Symptoms * 6 Treatment * 7 References * 8 External links ## Overview[edit | edit source] Camurati-Engelmann Disease (CED) is a is a form of dysplasia and a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. 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 some patients have no previous history of Camurati Engelmanns Disease within their family. There are approximately 200 cases worldwide. The disease is slowly progressive and, while there is no cure, there is treatment. The most common mutation causing Camurati-Engelmann Disease is in the gene encoding for the TGF-β2 receptor. ## Eponym[edit | edit source] It is named for M. Camurati[1] and G. Engelmann.[2] ## Classification[edit | edit source] There are two forms: * Type 1 is associated with TGFB1[3] * Type 2 is not associated with TGFB1[4] ## Naming[edit | edit source] Camurati-Engelmann Disease (CED) is also known as Engelmann Syndrome or progressive diaphyseal dysplasia (PDD), which are the most common alternative names of the disease. Other names include Osteopathia Hyperostotica Scleroticans and Multiplex Infantalis. In the past this disease was also known as Ribbing Disease, a name which is no longer used. ## Symptoms[edit | edit source] Human bones are very strong and durable but they are living organisms. Bones are constantly being broken down and rebuilt without losing their correct shape and size. When someone has a disease that interferes with this process, which is called bone remodeling, one experiences pain which restricts movement. Clinically, patients complain of chronic bone pain in the legs or arms, muscle weakness (myopathy) and waddling gait. Some other clinical problems associated with the disease are increased fatigue, weakness, headache and delay in puberty. Some patient have an abnormal or absent tibia, 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 pain and aching within the body part that is affected. The pain has been described as a hot stabbing pain, or a constant ache that radiates through several long bones at once. Pain may also occur in the hips, knees and other joints as they essentially just 'lock-up' (often becoming very stiff and sore), mostly when walking up or down staircases, or during the colder months of the year. Those with the disease tend to have a very characteristic walk. This can be attributed to the development of syndactyly, or webbing of the toes. Although, this may hinder their movement on land it makes them almost unmatchable in an aquatic environment. The pain is especially severe during a 'flare-up'. This is a common occurrence for several CED patients, often causing myopathy and extensive sleep deprivation from the chronic disabling pain. Patients may even require the use of a wheelchair, especially after being bedridden or housebound for days or weeks at a time. 'Flare-ups' may be attributed to, or exacerbated by illness, stress, exhaustion, infection, exercise, standing or walking for too long, cold weather, electrical storms, and sudden changes in barometric pressure. Engelmann's may also affect internal organs, the liver and spleen, which may become enlarged. A loss of vision can occur if bones near or around the eye socket are affected by the hardening effect. ## Treatment[edit | edit source] 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. In several reports, successful treatment with glucocoricosteroids was described, as its 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 and heat therapy have been successfully used in conjunction with pain medications, especially during flare-ups. Listed below is several support groups for patients and their families living with Engelmanns Syndrome. The compassion and friendship provided by these online support groups (including patients from the UK, USA, New Zealand, Italy, Australia and Canada) can be invaluable in helping to treat Camurati-Engelmanns Disease. They also provide links to having DNA genetically tested for specific CED mutations. With further genetic research a treatment or cure may hopefully be found in the near future. ## References[edit | edit source] 1. ↑ Camurati, M. Di uno raro caso di osteite simmetrica ereditaria degli arti inferiori. Chir. Organi Mov. 6: 662-665, 1922. 2. ↑ Engelmann, G. Ein Fall von Osteopathia hyperostotica (sclerotisans) multiplex infantilis. Fortschr. Geb. Roentgenstr. Nukl. 39: 1101-1106, 1929. 3. ↑ Janssens K, Vanhoenacker F, Bonduelle M; et al. (2006). "Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment". J. Med. Genet. 43 (1): 1–11. doi:10.1136/jmg.2005.033522. PMID 15894597.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link) 4. ↑ Nishimura G, Nishimura H, Tanaka Y; et al. (2002). "Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones". Am. J. Med. Genet. 107 (1): 5–11. PMID 11807860.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link) ## External links[edit | edit source] * Template:Chorus * Information about Engelmann Syndrome at healthline.com * Scientific article on Engelmann Syndrome * A support group for patients worldwide living with Camurati Engelmanns Disease * A support group for patients with CED, including alternative treatments * v * t * e Congenital malformations and deformations of musculoskeletal system (Q65-Q79, 754-756) Limbs| hip: Dislocation of hip/Hip dysplasia \- Upington disease feet (Club foot, Flat feet, Pes cavus) systemic dislocations Larsen syndrome head, face, spine and chest: skull, face and jaw (Dolichocephaly, Greig cephalopolysyndactyly syndrome, Plagiocephaly) - spine Scoliosis \- chest (Pectus excavatum, Pectus carinatum) any combination head, face, jaw, upper limb, lower limb, pelvis, dactyly Antley-Bixler syndrome \- Schmitt Gillenwater Kelly syndrome dactyly Polydactyly/Syndactyly (Webbed toes) - Cenani Lenz syndactylism reduction deficits (Acheiropodia, Amelia, Ectrodactyly, Phocomelia) upper limb (Cleidocranial dysostosis, Madelung's deformity, Sprengel's deformity, Wallis Zieff Goldblatt syndrome) knee (Genu valgum, Genu varum) other Arthrogryposis Skull and facial bones| Carpenter syndrome \- Craniodiaphyseal dysplasia \- Craniosynostosis (Scaphocephaly) - Crouzon syndrome \- Hypertelorism \- Macrocephaly \- Oxycephaly \- Platybasia \- Saethre-Chotzen syndrome \- Treacher Collins syndrome \- Trigonocephaly Spine and bony thorax| Klippel-Feil syndrome \- Spondylolisthesis \- Cervical rib \- Bifid rib Osteochondrodysplasia| developement of cartilage, tubular bones and spine: Achondrogenesis/Hypochondrogenesis \- Boomerang dysplasia \- Thanatophoric dysplasia \- Short rib-polydactyly syndrome \- Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata, Conradi-Hünermann syndrome), Achondroplasia (Hypochondroplasia, Osteosclerosis congenita) - Ellis-van Creveld syndrome \- Otospondylomegaepiphyseal dysplasia \- Spondyloepiphyseal dysplasia congenita \- Osteogenesis imperfecta \- McCune-Albright syndrome \- Osteopetrosis \- Metaphyseal dysplasia \- Recessive multiple epiphyseal dysplasia \- Hereditary multiple exostoses \- Osteopoikilosis \- Chondrodystrophy \- Osteodystrophy \- Atelosteogenesis, type II \- Diastrophic dysplasia Other| abdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) - Ehlers-Danlos syndrome See also non-congenital conditions (M, 710-739) Template:WH Template:WS *[v]: View this template *[t]: Discuss this template *[e]: Edit this template