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Disease Profile

Dowling-Degos disease

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

Adolescent

ICD-10

L81.8

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.

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)

Reticulate acropigmentation of Kitamura; Reticular pigment anomaly of flexures; Dowling-Degos Kitamura disease;

Categories

Congenital and Genetic Diseases; Metabolic disorders; Skin Diseases

Summary

Dowling-Degos disease is characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation) in the body's folds and creases. Other features may include abnormal growths and pus-filled swellings in the armpits, back, and neck. Symptoms typically develop in late childhood or in adolescence and progress over time. The classic form of Dowling-Degos disease occurs when the KRT5 gene is not working correctly. This condition is inherited in an autosomal dominant pattern. The skin changes caused by Dowling-Degos disease can be distressing, but they typically don't cause health problems.[1][2][3]

Symptoms

The following list includes the most common signs and symptoms in people with Dowling-Degos disease. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition. 

Signs and symptoms may include:[1][2]

  • Dark skin coloring (hyperpigmentation) in body folds and creases
  • Skin nodules (abnormal growths)
  • Skin abscesses (pus-filled bumps)
  • Pitted scars

The skin changes usually begin in late childhood or in adolescence. Areas of hyperpigmentation and other skin changes tend to increase over time. The skin changes caused by Dowling-Degos disease can cause distress and anxiety, but typically cause no long term medical problems.[1]

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
5%-29% of people have these symptoms
Hyperkeratotic papule
0045059
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Epidermal acanthosis
Thickening of upper layer of skin
0025092
Follicular hyperkeratosis
0007502
Hypergranulosis
0025114
Hyperpigmented/hypopigmented macules
0007441
Hypomelanotic macule
0009719
Progressive reticulate hyperpigmentation
0007456
Reticular hyperpigmentation
0007588

Cause

The classic form of Dowling-Degos disease occurs when the KRT5 gene is not working correctly. Other, less common forms, are associated with the POFUT1 and the POGLUT1 genes. DNA changes known as pathogenic variants are responsible for making genes work incorrectly, or sometimes, not at all.[2][4]

Diagnosis

Dowling-Degos disease is diagnosed based on the result of a clinical exam and a microscopic examination of a small piece of skin (skin biopsy).[1][2]

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment

Treatment for Dowling-Degos disease (DDD) is focused on managing the symptoms. Because most treatments have limited success, it is often necessary for people with DDD to try different treatment methods.[1][2][3]

One specialist who may be involved in the care of someone with Dowling-Degos disease is a dermatologist

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

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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    Online Mendelian Inheritance in Man (OMIM)
    Online Mendelian Inheritance in Man (OMIM)
    Online Mendelian Inheritance in Man (OMIM)
    Online Mendelian Inheritance in Man (OMIM)
  • 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 Dowling-Degos disease. Click on the link to view a sample search on this topic.

References

  1. Rice AS, Cook C. Dowling Degos Disease. StatPearls. Apr 2020; https://pubmed.ncbi.nlm.nih.gov/30285365.
  2. Agut-Busquet E, González-Villanueva I, Romani de Gabriel J, Pascual JC, Ribera Pibernat M, Luelmo J. Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature. Acta Derm Venereol. 2019; 99(10):917-918. https://pubmed.ncbi.nlm.nih.gov/31120546.
  3. Mohanty P, Jai S, Mohapatra L, Acharya S. Dowling-Degos Disease A Novel Presentation of An Uncommon Disease. Indian Dermatol Online J. 2019; 10(5):587-590. https://pubmed.ncbi.nlm.nih.gov/31544084.
  4. Wilson NJ, Cole C, Kroboth K, et al. Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. Br J Dermatol. 2017;176(1):270-274. 2017; 176(1):270-274. https://pubmed.ncbi.nlm.nih.gov/27479915.

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