Scleromyxedema, also known as lichen myxedematosus or papular mucinosis, is a rare disease that causes skin to become thick and hard, but appears ample rather than tight, as with most forms of scleroderma. It is a chronic connective tissue disorder where deposits of mucin form in the skin causing it to become red and raised. This makes moving affected areas difficult, and often causes disfiguration in the affected areas. The arms, legs, fingers, and face are the predominant areas that are affected by scleromyxedema (Lichen Myxedematosus, Elizabeth A Liotta, M.D., Assistant Professor, Department of Dermatology, Uniformed Services University of the Health Sciences).

Severe cases of the scleromyxedema make breathing hard when it affects the lungs and blood circulation limited when it affects the heart. When either of these two components are present, a patient’s prognosis becomes poor.

Signs and Symptoms of Scleromyxedema

Scleromyxedema can strike anyone of any ethnic background, but usually people who are middle aged. There are no reports confirming that the disease affects any one sex more than another. The signs and symptoms of scleromyxedema are easily distinguished, and usually include:

• Hardening of skin
• Tight skin
• Red skin
• Formation of cysts
• Muscle weakness
• Joint pain
• Ophthalmologic problems

Severe cases of the disease can cause serious neurological problems such as those found in brain diseases. This includes the presence of seizures and encephalopathy (Encephalopathy in scleromyxedema, Johkura K, Susuki K, Hasegawa O, Kuroiwa Y, Komatsumoto S., Department of Neurology, Urafune Hospital, Yokohama City University, Yokohama, Japan, U.S. National Library of Medicine and the National Institutes of Health).

Diagnosing Scleromyxedema

Scleromyxedema is often diagnosed by clinical presentation, predominantly the appearance of the affected skin. When the disease is suspected, a physician (preferably an internal medicine specialist or dermatologist) will order a paraprotein (7S-IgG) blood test, which is usually positive in patients with scleromyxedema. A skin biopsy of the affected area can also tell if mucin deposits are present, which is a hallmark characteristic of the disease.

Treatment of Scleromyxedema

Many of the treatment options available for scleromyxedema are aimed at controlling the symptoms caused by the disease. No consistent treatment has been identified to work for all patients, as the disease is so rare. High doses of thalidomide have been used with a measure of success, but often times the symptoms return.

Research is constantly underway to understand more about the etiology of scleromyxedema. There is very little information known about the disease at this point. The communication between doctor and patient is of utmost importance, especially as new cases of the disease are being discovered.