What is the definition of 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. 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.
What are the alternative names for Scleromyxedema?
- Arndt-Gottron disease
- Generalized lichenoid papular eruption
- Generalized papular and sclerodermoid
- Generalized papular and sclerodermoid lichen myxedematosus
What are the causes for Scleromyxedema?
The underlying cause of scleromyxedema remains unknown. In a few cases, it has been reported in association with cancers of the bone marrow such as myeloma, lymphoma and leukemia.
What are the symptoms for Scleromyxedema?
Scleromyxedema usually affects people between the ages of 30 and 50. 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)
- 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.
Gastrointestinal symptoms (most commonly dysphagia) are related to esophageal aperistalsis. Severe proximal muscle weakness, polyarthritis, and symptoms resembling those of organic brain disease are present. Inflammatory myopathy is also reported. Ophthalmologic symptoms include ectropion and corneal opacities. Cardiovascular abnormalities occur in 10% of cases. One study revealed that digital vasoreactivity is the most common vascular abnormality
What are the current treatments for Scleromyxedema?
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). 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.
Is Scleromyxedema an inherited disorder?
To our knowledge, there is currently no evidence that scleromyxedema is inherited. We are not aware of any reports in the medical literature describing scleromyxedema affecting more than one member of a family.