Camurati–Engelmann disease

"Engelmann syndrome" redirects here. For the neuro-genetic disorder, see Angelman syndrome.
Camurati–Engelmann disease
Classification and external resources
ICD-10 Q78.3
ICD-9 756.59
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 Camurati–Engelmann disease within their family. The disease is slowly progressive and, while there is no cure, there is treatment.

Eponym

It is named for M. Camurati[2] and G. Engelmann.[3]

Classification

There are two forms:

Naming

Camurati–Engelmann Disease (CED) 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. In the past this disease was also known as ribbing disease, a name which is no longer used.

Symptoms

Human bones are very strong and durable but they are made of live tissues. 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 with CED complain of chronic bone pain in the legs or arms, muscle weakness (myopathy) and experience a waddling gait. Some other clinical problems associated with the disease are 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.

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.

Engelmann's 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.

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

References

  1. ↑ 1.0 1.1 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.
  2. ↑ (Italian) Camurati, M. Di uno raro caso di osteite simmetrica ereditaria degli arti inferiori. Chir. Organi Mov. 6: 662–665, 1922.
  3. ↑ (German) Engelmann, G. Ein Fall von Osteopathia hyperostotica (sclerotisans) multiplex infantilis. Fortschr. Geb. Roentgenstr. Nukl. 39: 1101–1106, 1929.
  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. doi:10.1002/ajmg.10079. PMID 11807860.

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