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Disease Profile
Scleromyxedema
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
Symptoms
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.
Treatment
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
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Scleromyxedema Survivors
C/O Phyllis Kay Phillips
1704 Lower Millstone Lane
Salisbury, MD 21801
Telephone: 410-742-7843
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
- Rongioletti F. Scleromyxedema. UpToDate. Waltham, MA: UpToDate; 2015;
- 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.
- Liotta E.A. Lichen Myxedematosus. Medscape Reference. 2016; https://www.emedicine.com/DERM/topic231.htm.
- Eugene Tan. Lichen myxoedematosus. DermNet NZ. 2008; https://dermnetnz.org/immune/scleromyxoedema.html.
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