Rare Pediatrics News

Disease Profile

Papular mucinosis

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

-

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

no.svg

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

no.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

Lichen myxoedematosus; Lichen myxedematosus; Localized lichen myxedematosus

Summary

Papular mucinosis is a rare skin disorder characterized by deposits of mucin in the skin. The terms "papular mucinosis" and "lichen myxoedematosus" are generally used interchangeably to describe the occurrence of this condition as a localized and less severe form, while the term scleromyxoedema refers to a generalized, more severe form.[1][2] Signs and symptoms of the condition include the presence of small, firm, waxy papules on the skin that are confined to a few sites on the body.[1] Affected individuals are typically otherwise healthy.[2] The cause of the condition is unknown, but it is commonly associated with monoclonal gammopathy. It has also been reported in association with bone marrow cancers as well HIV infection, hepatitis C, exposure to toxic oil and contaminated L-tryptophan.[1] Localized papular mucinosis typically does not require therapy, but topical corticosteroids and oral isotretinoin may help to reduce hardening of the skin.[1]

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 Papular mucinosis. Click on the link to view a sample search on this topic.

References

  1. Lichen myxoedematosus. DermNet NZ. June 29, 2011; https://dermnetnz.org/immune/scleromyxoedema.html. Accessed 3/19/2012.
  2. Elizabeth A Liotta. Lichen Myxedematosus. eMedicine. January 17, 2012; https://emedicine.medscape.com/article/1074545-overview. Accessed 3/19/2012.