Camurati-Engelmann disease

# Overview
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-2 receptor.

# Eponym
It is named for M. Camurati and G. Engelmann.

# Classification
There are two forms:
- Type 1 is associated with TGFB1
- Type 2 is not associated with TGFB1

# Naming
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
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
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.