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  3. Dowling-Degos disease
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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


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Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. Other features may include dark lesions on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, depressed or pitted scars on the face similar to acne scars but with no history of acne, cysts within hair follicles (pilar cysts) on the scalp, and rarely, patches of skin that are unusually light in color (hypopigmented). Symptoms typically develop in late childhood or in adolescence and progress over time. While the skin changes caused by Dowling-Degos disease can be bothersome, they typically don't cause health problems. Dowling-Degos disease is caused by mutations in the KRT5 gene. This condition is inherited in an autosomal dominant pattern.[1]
Last updated: 2/4/2013

Symptoms Symptoms


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Dowling-Degos disease is characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow and back of the knee. Less commonly, pigmentation changes can also occur on the wrist, back of the hand, face, scalp, scrotum (in males), and vulva (in females). These areas of hyperpigmentation are not affected by exposure to sunlight.[1]

Individuals with Dowling-Degos disease may also have dark lesions on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, or depressed or pitted scars on the face similar to acne scars but with no history of acne. Cysts within the hair follicle (pilar cysts) may develop, most commonly on the scalp. Rarely, affected individuals have patches of skin that are unusually light in color (hypopigmented).[1]

The pigmentation changes characteristic of Dowling-Degos disease typically begin in late childhood or in adolescence, although in some individuals, features of the condition do not appear until adulthood. New areas of hyperpigmentation tend to develop over time, and the other skin lesions tend to increase in number as well. While the skin changes caused by Dowling-Degos disease can be bothersome, they typically cause no health problems.[1]

Last updated: 2/4/2013

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.

Showing of 9 |
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: 12/1/2019
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

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


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There is no cure for Dowling-Degos disease.[2][3][4] Many different treatments have been tried for this condition, but none has proven effective in eliminating the symptoms for all patients. Topical retinoic acids, topical steroids, hydroquinone, tretinoin, and systemic retinoids have been used without success.[2] Limited reports indicate at least temporary therapeutic benefit with topical adapalene. Various laser systems (CO2 and erbiumYAG) have also shown some promise.[3][4]   

Additional articles that address this topic can be accessed below:

Wenzel G, Petrow W, Tappe K, Gerdsen R, Uerlich WP, Bieber T. Treatment of Dowling-Degos disease with Er:YAG-laser: results after 2.5 years. Dermatol Surg. 2003 Nov;29(11):1161-2.

Wenzel J, Tappe K, Gerdsen R, Uerlich M, Philipp-Dormston W, Bieber T, Petrow W. Successful treatment of Dowling-Degos disease with Er:YAG laser. Dermatol Surg. 2002 Aug;28(8):748-50.

Altomare G, Capella GL, Fracchiolla C, Frigerio E. Effectiveness of topical adapalene in Dowling-Degos disease. Dermatology. 1999;198(2):176-7. 

Last updated: 2/4/2013

Find a Specialist Find a Specialist


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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 Genetics Home Reference.

Learn More Learn More


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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


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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. Submit a new question

  • Can Dowling-Degos disease be cured? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Dowling-Degos disease. Genetics Home Reference (GHR). November 2012; http://ghr.nlm.nih.gov/condition/dowling-degos-disease. Accessed 2/4/2013.
  2. Schwartz RA. Reticulate Pigmented Anomaly . Medscape Reference. May 2012; http://emedicine.medscape.com/article/1118586-overview. Accessed 2/4/2013.
  3. Kang HS, Hur J, Lee JW, Oh DH, Yeo KY, Kim JS, Yu HJ. A Case of Dowling-Degos Disease on the Vulva. Ann Dermatol. May 2011; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3130865/. Accessed 2/4/2013.
  4. Horner ME, Parkinson KE, Kaye V, Lynch PJ. Dowling-Degos Disease involving the vulva and back: Case report and review of the literature . Dermatology Online Journal. July 2011; http://dermatology.cdlib.org/1707/2_csr/1_11-00143/article.html. Accessed 2/4/2013.
Do you know of a review article? We want to hear from you.
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You can help advance rare disease research!
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