Rare Hematology News

Disease Profile

Scleromyxedema

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adult

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ICD-10

L98.5

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Arndt-Gottron disease; Generalized lichenoid papular eruption; Generalized papular and sclerodermoid ;

Categories

Skin Diseases

Summary

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]

Symptoms

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.

Cause

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]

Treatment

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 transplantationmelphalan,or bortezomib with dexamethasone.[1] 

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    • Scleromyxedema Survivors
      C/O Phyllis Kay Phillips
      1704 Lower Millstone Lane
      Salisbury, MD 21801
      Telephone: 410-742-7843

    Social Networking Websites

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Scleromyxedema. Click on the link to view a sample search on this topic.

          References

          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; https://www.emedicine.com/DERM/topic231.htm.
          4. Eugene Tan. Lichen myxoedematosus. DermNet NZ. 2008; https://dermnetnz.org/immune/scleromyxoedema.html.

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