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Disease Profile

Elastoderma

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adolescent

ICD-10

-

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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Categories

Skin Diseases

Summary

Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery.[1][2][3]

Symptoms

People affected by elastoderma generally have increased laxity of the skin that is localized to a specific area of the body. Skin is often described as lax when it hangs or sags in loose folds and is not stretchy. Affected areas of skin may appear wrinkled. Decreased recoil of the skin has also been reported.[2][3]

Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved.[2][3]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Cutis laxa
Loose and inelastic skin
0000973
80%-99% of people have these symptoms
Papule
0200034
Premature skin wrinkling
0100678
Skin nodule
0200036
30%-79% of people have these symptoms
Hyperesthesia
0100963
5%-29% of people have these symptoms
Eczema
0000964
Erysipelas
0001055

Cause

The exact underlying cause of elastoderma is currently unknown. It is thought to occur when there is an over-production of elastin in a specific area of skin. Elastin is a protein that is a vital component of skin and other connective tissues throughout the body. It serves many roles. For example, elastin provides strength and flexibility to connective tissues; give structural support to organs and tissues such as the heart, skin, and lungs; and helps the skin return to its original position when it is poked or pinched (recoil). It is unclear what causes this increase in elastin synthesis in people affected by elastoderma.[2][3]

Diagnosis

A diagnosis of elastoderma is generally made in people with characteristic signs and symptoms once other conditions that cause similar features have been ruled out. A skin biopsy may be recommended to confirm the diagnosis.[2][3]

Treatment

Due to the rarity of the condition, there is no standard therapy available for elastoderma. In some reported cases, the affected skin has been partially excised (removed). However, hyperlaxity of skin often returns following the surgery.[1][2][3]

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.

In-Depth Information

  • 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 Elastoderma. Click on the link to view a sample search on this topic.

References

  1. de Waal AC, Blokx WA, Seyger MM, van Rossum MM. Elastoderma: an uncommon cause of acquired hyperextensible skin. Acta Derm Venereol. May 2012; 92(3):328-329.
  2. Adil H, Walsh S. Elastoderma: Case Report and Literature Review. Am J Dermatopathol. July 2015; 37(7):577-580.
  3. Lewis KG, Bercovitch L, Dill SW, Robinson-Bostom L. Acquired disorders of elastic tissue: part I. Increased elastic tissue and solar elastotic syndromes. J Am Acad Dermatol. July 2004; 51(1):1-21.

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