National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Scleromyxedema

Back to List of Questions
What causes scleromyxedema and how is it treated?

The following information may help to address your question:


What is scleromyxedema?

Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems.[1][2] The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation.[2]
Last updated: 9/29/2016

What are the signs and symptoms of scleromyxedema?

Scleromyxedema usually affects people between the ages of 30 and 50.[3] Skin symptoms usually include a generalized papular eruption with sclerosis (hardening of tissue). 

The papules may be dome shaped, firm, skin colored, or red, and approximately 3 mm in diameter.  Extensive areas of the skin may be involved. The face, knees, and elbows are often affected and the range of motion of the face, fingers, and extremities is decreased.

Scleromyxedema can involve areas of the body other than the skin, including the pharynx and the upper airway. Other symptoms that can be caused by scleromyxedema include:
  • Esophageal aperistalsis (absence of muscular contractions that help us swallow)  
  • Hoarseness  
  • Inflammatory polyarthritis (simultaneous inflammation of several joints) 
  • Proximal myopathy (various conditions or diseases of the muscular tissues) 
  • Neurologic dysfunction 
  • Eye abnormalities
  • Breathing difficulty caused by restrictive and obstructive pulmonary dysfunction
  • Heart abnormalities.
Last updated: 9/29/2016

What causes scleromyxedema?

The underlying cause of scleromyxedema remains unknown.[2][1] In a few cases, it has been reported in association with cancers of the bone marrow such as myeloma, lymphoma and leukemia.[4]
Last updated: 3/13/2017

How might scleromyxedema be treated?

There is no standard treatment for scleromyxedema. The severe course of the disease requires very aggressive treatment, and long-term maintenance therapy is usually necessary. According to the literature, the use of intravenous immunoglobilin (IVIG) may be successful and usually is used first; this type of treatment can have relatively long-term effects and few side effects. Because of this, it is currently considered by many the best treatment option. Plasmapheresis is effective as a short-term treatment but leads to relapses (recurrence of symptoms).[2] For those patients who cannot receive IVIG, thalidomide and systemic glucocorticoids may be used. When the patients with severe disease do not have a good response, other interventions are required, such as autologous bone marrow transplantation, melphalan,or bortezomib with dexamethasone.[1] 
Last updated: 9/29/2016

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

Please see our Disclaimer.

  1. Rongioletti F. Scleromyxedema. UpToDate. Waltham, MA: UpToDate; 2015;
  2. Koronowska SK, Osmola-Mankowska A, Jakubowicz O, Zaba R. Scleromyxedema: a rare disorder and its treatment difficulties. Postepy Dermatol Alergol. April, 2013; 30(2):122-126.
  3. Liotta E.A. Lichen Myxedematosus. Medscape Reference. 2016; http://www.emedicine.com/DERM/topic231.htm.
  4. Eugene Tan. Lichen myxoedematosus. DermNet NZ. 2008; http://dermnetnz.org/immune/scleromyxoedema.html.