"Engelmann syndrome" redirects here. For the neuro-genetic disorder, see Angelman syndrome.
| Camurati–Engelmann disease |
| Classification and external resources |
| Specialty |
medical genetics |
| ICD-10 |
Q78.3 |
| ICD-9-CM |
756.59 |
| OMIM |
131300 606631 |
| DiseasesDB |
4301 |
| MeSH |
D003966 |
Camurati–Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. It is a form of dysplasia.[1] 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 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.[2] Camurati–Engelmann disease is also known as Engelmann disease (ED), Engelmann syndrome (ES), Camurati–Engelmann syndrome (CES) or progressive diaphyseal dysplasia (PDD), which are the most common alternative names of the disease. Other names include osteopathia hyperostotica scleroticans and multiplex infantalis.[citation needed]
Contents
- 1 Classification
- 2 Symptoms
- 3 Treatment
- 4 Notable persons with the Camurati–Engelmann syndrome
- 5 References
- 6 External links
Classification
There are two forms:
- Type 1 is associated with TGFB1[1]
- Type 2 is not associated with TGFB1[3]
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. The pain has been described as either a hot electric stabbing pain, an ever-increasing pressure sensation around the bones (especially before electrical storms) or as a constant ache that radiates through several long bones at once. Pain may also occur in the hips, wrists, knees and other joints as they essentially just 'lock-up' (often becoming very stiff, immobile and sore), mostly when walking up or down staircases, writing for extended periods of time, or during the colder months of the year. Those with the disease tend to have a very characteristic walk medically diagnosed as a 'waddling gait'. This is observed by the broad-based gait with a duck-like waddle to the swing phase, the pelvis drops to the side of the leg being raised, notable forward curvature of the lumbar spine and a marked body swing.[medical citation needed]
The pain is especially severe during a 'flare-up', these can be unpredictable, exhausting and last anywhere from a few hours to several weeks. This is a common occurrence for several CED patients, often causing myopathy and extensive sleep deprivation from the chronic, severe and disabling pain. Patients may even require the use of a wheelchair (or additional carer's help with getting dressed, showering, mobility/shopping, preparing meals or lifting heavy items) especially when bedridden or housebound for days or weeks at a time. '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.[medical citation needed]
CED may also affect internal organs, the liver and spleen, which may become enlarged.[medical citation needed] 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.
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).
Notable persons with the Camurati–Engelmann syndrome
- John Belluso, writer for the CBS television show Ghost Whisperer, was bound to a wheel chair since 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
- ^ a b Janssens K, Vanhoenacker F, Bonduelle M; et al. (January 2006). "Camurati‐Engelman disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment". Journal of medical genetics 43 (1): 1–11. doi:10.1136/jmg.2005.033522. PMC 2564495. PMID 15894597.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 131300
- ^ 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. doi:10.1002/ajmg.10079. PMID 11807860.
Cite error: Invalid <ref> tag; name "pmid15894597" defined multiple times with different content
External links
- GeneReviews/NCBI/NIH/UW entry on Camurati-Engelmann Disease
- 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 families and patients with CED, including alternative treatments
- Information about Engelmann Syndrome at Healthline.com
|
Osteochondrodysplasia (Q77–Q78, 756.4–756.5)
|
|
Osteodysplasia//
osteodystrophy |
| Diaphysis |
- Camurati–Engelmann disease
|
|
| Metaphysis |
- Metaphyseal dysplasia
- Jansen's metaphyseal chondrodysplasia
- Schmid metaphyseal chondrodysplasia
|
|
| Epiphysis |
- Spondyloepiphyseal dysplasia congenita
- Multiple epiphyseal dysplasia
- Otospondylomegaepiphyseal dysplasia
|
|
| Osteosclerosis |
- Raine syndrome
- Osteopoikilosis
- Osteopetrosis
|
|
| Other/ungrouped |
- FLNB
- Opsismodysplasia
- Polyostotic fibrous dysplasia
|
|
|
Chondrodysplasia/
chondrodystrophy
(including dwarfism) |
| Osteochondroma |
- osteochondromatosis
- Hereditary multiple exostoses
|
|
| Chondroma/enchondroma |
- enchondromatosis
- Ollier disease
- Maffucci syndrome
|
|
| Growth factor receptor |
| FGFR2: |
|
|
| FGFR3: |
- Achondroplasia
- Thanatophoric dysplasia
|
|
|
| COL2A1 collagen disease |
- Achondrogenesis
- Hypochondrogenesis
|
|
| SLC26A2 sulfation defect |
- Achondrogenesis
- Autosomal recessive multiple epiphyseal dysplasia
- Atelosteogenesis, type II
- Diastrophic dysplasia
|
|
| Chondrodysplasia punctata |
- Rhizomelic chondrodysplasia punctata
- Conradi–Hünermann syndrome
|
|
| Other dwarfism |
- Fibrochondrogenesis
- Short rib – polydactyly syndrome
- Majewski's polydactyly syndrome
- Léri–Weill dyschondrosteosis
|
|
|
|
Index of bones and cartilage
|
|
| Description |
- Anatomy
- bones
- skull
- face
- neurocranium
- compound structures
- foramina
- upper extremity
- torso
- pelvis
- lower extremity
- Physiology
- Development
- Cells
|
|
| Disease |
- Congenital
- Neoplasms and cancer
- Trauma
- Other
- Symptoms and signs
|
|
| Treatment |
|
|
|
|
Extracellular ligand disorders
|
|
| Cytokine |
- EDA Hypohidrotic ectodermal dysplasia
- Camurati–Engelmann disease
|
|
| Ephrin |
- Craniofrontonasal dysplasia
|
|
| WNT |
|
|
| TGF |
|
|
| Fas ligand |
- Autoimmune lymphoproliferative syndrome 1B
|
|
| Endothelin |
- EDN3
- Waardenburg syndrome IVb
- Hirschsprung's disease 4
|
|
| Other |
- DHH (DHH XY gonadal dysgenesis)
- BMP15 (Premature ovarian failure 4)
- TSHB (Congenital hypothyroidism 4)
|
|
- See also
- intercellular signaling peptides and proteins
|
Index of cells
|
|
| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
|
|
| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
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|
|
