Dowling-Degos disease

Title

Other Names:

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

Categories:

Congenital and Genetic Diseases; Metabolic disorders; Skin Diseases

Summary 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]

Last updated: 7/2/2020

Symptoms 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]

Last updated: 7/2/2020

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.

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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

Showing of 9 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Cause 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]

Last updated: 7/2/2020

Inheritance Inheritance

Dowling-Degos disease is inherited in an autosomal dominant pattern.^[1]^[3] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition. The alteration can be inherited from either parent. Sometimes an autosomal dominant condition occurs because of a new genetic alteration (de novo), and there is no history of this condition in the family.

Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the alteration and the condition. Typically, children who inherit a dominant alteration will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene alteration for an autosomal dominant condition and show no signs or symptoms of the condition.

Last updated: 7/2/2020

Diagnosis 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]

Last updated: 7/2/2020

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

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.

Last updated: 7/2/2020

Statistics Statistics

Less than 50 cases of Dowling-Degos disease (DDD) have been reported in the medical literature. It is unknown exactly how many people have DDD.^[1]

Last updated: 7/2/2020

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Learn More 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

Genetics Home Reference (GHR) contains information on Dowling-Degos disease. This website is maintained by the National Library of Medicine.

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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Rice AS, Cook C. Dowling Degos Disease. StatPearls. Apr 2020; https://pubmed.ncbi.nlm.nih.gov/30285365.
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.
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.
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.