Camurati-Engelmann disease
Encyclopedia
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
. Patients typically have heavily thickened bones, especially along the shafts of the long bone
s (called diaphyseal dysplasia). The skull
bones may be thickened so that the passages through the skull that carry nerve
s and blood vessel
s 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 Engelmanns Syndrome within their family. The disease is slowly progressive and, while there is no cure, there is treatment.
There are approximately 200 known cases worldwide.
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, Xrays, 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.
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
).
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
that causes characteristic anomalies in the skeleton
Skeleton
The skeleton is the body part that forms the supporting structure of an organism. There are two different skeletal types: the exoskeleton, which is the stable outer shell of an organism, and the endoskeleton, which forms the support structure inside the body.In a figurative sense, skeleton can...
. It is a form of dysplasia
Dysplasia
Dysplasia , is a term used in pathology to refer to an abnormality of development. This generally consists of an expansion of immature cells, with a corresponding decrease in the number and location of mature cells. Dysplasia is often indicative of an early neoplastic process...
. Patients typically have heavily thickened bones, especially along the shafts of the long bone
Long bone
The long bones are those that are longer than they are wide. They are one of five types of bones: long, short, flat, irregular and sesamoid. Long bones, especially the femur and tibia, are subjected to most of the load during daily activities and they are crucial for skeletal mobility. They grow...
s (called diaphyseal dysplasia). The skull
Human skull
The human skull is a bony structure, skeleton, that is in the human head and which supports the structures of the face and forms a cavity for the brain.In humans, the adult skull is normally made up of 22 bones...
bones may be thickened so that the passages through the skull that carry nerve
Nerve
A peripheral nerve, or simply nerve, is an enclosed, cable-like bundle of peripheral axons . A nerve provides a common pathway for the electrochemical nerve impulses that are transmitted along each of the axons. Nerves are found only in the peripheral nervous system...
s and blood vessel
Blood vessel
The blood vessels are the part of the circulatory system that transports blood throughout the body. There are three major types of blood vessels: the arteries, which carry the blood away from the heart; the capillaries, which enable the actual exchange of water and chemicals between the blood and...
s become narrowed, possibly leading to sensory deficits, blindness
Blindness
Blindness is the condition of lacking visual perception due to physiological or neurological factors.Various scales have been developed to describe the extent of vision loss and define blindness...
, or deafness.
This disease often appears in childhood and is considered to be inherited, however some patients have no previous history of Engelmanns Syndrome within their family. The disease is slowly progressive and, while there is no cure, there is treatment.
There are approximately 200 known cases worldwide.
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 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
Tibia
The tibia , shinbone, or shankbone is the larger and stronger of the two bones in the leg below the knee in vertebrates , and connects the knee with the ankle bones....
, may present with a flat foot
Flat foot
Flat foot may refer to:*Flat feet, a condition wherein the arch of the foot collapses**Flat feet in children, normal and common in infants*Flat foot, slang for police officer...
or scoliosis
Scoliosis
Scoliosis is a medical condition in which a person's spine is curved from side to side. Although it is a complex three-dimensional deformity, on an X-ray, viewed from the rear, the spine of an individual with scoliosis may look more like an "S" or a "C" than a straight line...
.
This disease may also cause bones to become abnormally hardened which is referred to as sclerosis
Osteosclerosis
Osteosclerosis, an elevation in bone density, is normally detected on an X-ray as an area of whiteness, and is where the bone density has significantly increased...
. 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
Liver
The liver is a vital organ present in vertebrates and some other animals. It has a wide range of functions, including detoxification, protein synthesis, and production of biochemicals necessary for digestion...
and spleen
Spleen
The spleen is an organ found in virtually all vertebrate animals with important roles in regard to red blood cells and the immune system. In humans, it is located in the left upper quadrant of the abdomen. It removes old red blood cells and holds a reserve of blood in case of hemorrhagic shock...
, 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, Xrays, 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
Winter
Winter is the coldest season of the year in temperate climates, between autumn and spring. At the winter solstice, the days are shortest and the nights are longest, with days lengthening as the season progresses after the solstice.-Meteorology:...
).
Notable persons with the Camurati-Engelmann Syndrome
- John BellusoJohn BellusoJohn Belluso was an American playwright best known for his works focusing on the lives of disabled people.He also directed a writing program for disabled people....
, writer for the CBSCBSCBS Broadcasting Inc. is a major US commercial broadcasting television network, which started as a radio network. The name is derived from the initials of the network's former name, Columbia Broadcasting System. The network is sometimes referred to as the "Eye Network" in reference to the shape of...
television show Ghost WhispererGhost WhispererGhost Whisperer is an American television supernatural drama, which ran on CBS from September 23, 2005 to May 21, 2010.The series follows the life of Melinda Gordon , who has the ability to see and communicate with ghosts...
, was bound to a wheel chair since the age of 13 because of the Englemann-Camurati syndrome. He passed away on February 10, 2006, at the age of 36 in New York City.
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