Scleromyositis, is an
autoimmune disease
An autoimmune disease is a condition arising from an abnormal immune response to a functioning body part. At least 80 types of autoimmune diseases have been identified, with some evidence suggesting that there may be more than 100 types. Nearly ...
(a disease in which the
immune system
The immune system is a network of biological processes that protects an organism from diseases. It detects and responds to a wide variety of pathogens, from viruses to parasitic worms, as well as Tumor immunology, cancer cells and objects such ...
attacks the body). People with scleromyositis have symptoms of both
systemic scleroderma
Systemic scleroderma, or systemic sclerosis, is an autoimmune rheumatic disease characterised by excessive production and accumulation of collagen, called fibrosis, in the skin and internal organs and by injuries to small arteries. There are two ...
and either
polymyositis
Polymyositis (PM) is a type of chronic inflammation of the muscles ( inflammatory myopathy) related to dermatomyositis and inclusion body myositis. Its name means "inflammation of many muscles" (''poly-'' + '' myos-'' + ''-itis''). The inflammat ...
or
dermatomyositis
Dermatomyositis (DM) is a long-term inflammatory disorder which affects skin and the muscles. Its symptoms are generally a skin rash and worsening muscle weakness over time. These may occur suddenly or develop over months. Other symptoms may in ...
, and is therefore considered an
overlap syndrome. Although it is a rare disease, it is one of the more common overlap syndromes seen in scleroderma patients, together with
MCTD
Mixed connective tissue disease, commonly abbreviated as MCTD, is an autoimmune disease characterized by the presence of elevated blood levels of a specific autoantibody, now called anti-U1 ribonucleoprotein (RNP) together with a mix of symptoms o ...
and
Antisynthetase syndrome
Anti-synthetase syndrome is an autoimmune disease associated with interstitial lung disease, dermatomyositis, and polymyositis.
Signs and symptoms
As a syndrome, this condition is poorly defined. Diagnostic criteria require one or more antisynth ...
.
Autoantibodies
An autoantibody is an antibody (a type of protein) produced by the immune system that is directed against one or more of the individual's own proteins. Many autoimmune diseases (notably lupus erythematosus) are associated with such antibodies.
P ...
often found in these patients are the anti-PM/Scl (anti-
exosome
Exosome may refer to:
* Exosome complex
The exosome complex (or PM/Scl complex, often just called the exosome) is a multi-protein intracellular complex capable of degrading various types of RNA (ribonucleic acid) molecules. Exosome complexes ...
) antibodies.
The symptoms that are seen most often are typical symptoms of the individual autoimmune diseases and include
Raynaud's phenomenon
Raynaud syndrome, also known as Raynaud's phenomenon, eponymously named after the physician Auguste Gabriel Maurice Raynaud, who first described it in his doctoral thesis in 1862, is a medical condition in which the spasm of small arteries cau ...
,
arthritis
Arthritis is a term often used to mean any disorder that affects joints. Symptoms generally include joint pain and stiffness. Other symptoms may include redness, warmth, swelling, and decreased range of motion of the affected joints. In some ...
,
myositis
Myositis is a rare disease that involves inflammation of the muscles. This can present with a variety of symptoms such as skin involvement (i.e., rashes), muscle weakness, and other organ involvement. Systemic symptoms such as weight loss, fatigue ...
and
scleroderma
Scleroderma is a group of autoimmune diseases that may result in changes to the skin, blood vessels, muscles, and internal organs. The disease can be either localized to the skin or involve other organs, as well. Symptoms may include areas o ...
. Treatment of these patients is therefore strongly dependent on the exact symptoms with which a patient reports to a physician and is similar to treatment for the individual autoimmune disease, often involving either
immunosuppressive
Immunosuppression is a reduction of the activation or efficacy of the immune system. Some portions of the immune system itself have immunosuppressive effects on other parts of the immune system, and immunosuppression may occur as an adverse react ...
or immunomodulating drugs.
Signs and symptoms
Symptoms vary but they mostly involve skin disorders. The signs to look for include
Raynaud's phenomenon
Raynaud syndrome, also known as Raynaud's phenomenon, eponymously named after the physician Auguste Gabriel Maurice Raynaud, who first described it in his doctoral thesis in 1862, is a medical condition in which the spasm of small arteries cau ...
,
arthritis
Arthritis is a term often used to mean any disorder that affects joints. Symptoms generally include joint pain and stiffness. Other symptoms may include redness, warmth, swelling, and decreased range of motion of the affected joints. In some ...
,
myositis
Myositis is a rare disease that involves inflammation of the muscles. This can present with a variety of symptoms such as skin involvement (i.e., rashes), muscle weakness, and other organ involvement. Systemic symptoms such as weight loss, fatigue ...
and
scleroderma
Scleroderma is a group of autoimmune diseases that may result in changes to the skin, blood vessels, muscles, and internal organs. The disease can be either localized to the skin or involve other organs, as well. Symptoms may include areas o ...
.
Visual symptoms include discoloring of the skin and painful swelling.
Cause
* There is no distinct cause for scleromyositis.
* Scleroderma can develop in every age group from infants to the elderly, but its onset is most frequent between the ages of 25 to 55.
* In most cases it is observed that the disease involves an overproduction of collagen.
Diagnosis
Diagnosis is by skin tests. Typically, after a consultation with a rheumatologist, the disease will be diagnosed. A dermatologist is also another specialist that can diagnose.
Blood studies and numerous other specialized tests depending upon which organs are affected.
Scleroderma overlap syndrome
People with scleroderma overlap syndrome have symptoms of both systemic scleroderma and/or
polymyositis
Polymyositis (PM) is a type of chronic inflammation of the muscles ( inflammatory myopathy) related to dermatomyositis and inclusion body myositis. Its name means "inflammation of many muscles" (''poly-'' + '' myos-'' + ''-itis''). The inflammat ...
and
dermatomyositis
Dermatomyositis (DM) is a long-term inflammatory disorder which affects skin and the muscles. Its symptoms are generally a skin rash and worsening muscle weakness over time. These may occur suddenly or develop over months. Other symptoms may in ...
:
*
Scleroderma
Scleroderma is a group of autoimmune diseases that may result in changes to the skin, blood vessels, muscles, and internal organs. The disease can be either localized to the skin or involve other organs, as well. Symptoms may include areas o ...
: a group of rare diseases that involve the hardening and tightening of the skin and connective tissues.
*
Polymyositis
Polymyositis (PM) is a type of chronic inflammation of the muscles ( inflammatory myopathy) related to dermatomyositis and inclusion body myositis. Its name means "inflammation of many muscles" (''poly-'' + '' myos-'' + ''-itis''). The inflammat ...
: a rare inflammatory disease that causes muscle weakness affecting both sides of your body.
*
Dermatomyositis
Dermatomyositis (DM) is a long-term inflammatory disorder which affects skin and the muscles. Its symptoms are generally a skin rash and worsening muscle weakness over time. These may occur suddenly or develop over months. Other symptoms may in ...
: an inflammatory disease of skin and muscle marked especially by muscular weakness and skin rash.
Scleroderma is a connective tissue disease that causes
fibrosis
Fibrosis, also known as fibrotic scarring, is a pathological wound healing in which connective tissue replaces normal parenchymal tissue to the extent that it goes unchecked, leading to considerable tissue remodelling and the formation of permane ...
and vascular abnormalities, but that also has an autoimmune component, and can include connective tissues complications.
Treatment
There is no current cure. The only way to treat this disease is by treating symptoms. Commonly people are prescribed immunosuppressive drugs. Another route would be to take collagen regulation drugs.
Recent research
As of 2006 it is unclear which antibodies will best treat connective tissue diseases.
One study from 2014 showed some potential of the synthetic drug
Rituximab
Rituximab, sold under the brand name Rituxan among others, is a monoclonal antibody medication used to treat certain autoimmune diseases and types of cancer. It is used for non-Hodgkin lymphoma, chronic lymphocytic leukemia (in non-geriatric p ...
in treating this class of overlap syndromes.
References
Further reading
{{Autoimmune diseases
Autoimmune diseases
Rheumatology