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Genetics Home Reference: your guide to understanding genetic conditions
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Dowling-Degos disease

Reviewed November 2012

What is Dowling-Degos disease?

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. 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 do not darken with exposure to sunlight and cause no health problems.

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).

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.

A condition called Galli-Galli disease has signs and symptoms similar to those of Dowling-Degos disease. In addition to pigmentation changes, individuals with Galli-Galli disease also have a breakdown of cells in the outer layer of skin (acantholysis). Acantholysis can cause skin irritation and itchiness. These conditions used to be considered two separate disorders, but Galli-Galli disease and Dowling-Degos disease are now regarded as the same condition.

How common is Dowling-Degos disease?

Dowling-Degos disease appears to be a rare condition, although its prevalence is unknown.

What genes are related to Dowling-Degos disease?

Mutations in the KRT5 gene cause Dowling-Degos disease. The KRT5 gene provides instructions for making a protein called keratin 5. Keratins are a family of proteins that form the structural framework of certain cells, particularly cells that make up the skin, hair, and nails. Keratin 5 is produced in cells called keratinocytes found in the outer layer of the skin (the epidermis). Keratin 5 is one component of molecules called keratin intermediate filaments. These filaments assemble into strong networks that help attach keratinocytes together and anchor the epidermis to underlying layers of skin. Researchers believe that keratin 5 may also play a role in transporting melanosomes, which are cellular structures that produce a pigment called melanin. The transport of these structures into keratinocytes is important for normal skin coloration (pigmentation).

KRT5 gene mutations that cause Dowling-Degos disease lead to a decrease in the amount of functional keratin 5 protein that is produced. A reduction in keratin 5 can impair the formation of keratin intermediate filaments. As a result, the normal organization of the epidermis is altered, leading to the development of different types of skin lesions. Additionally, a decrease in keratin 5 may disrupt the movement of pigment-carrying melanosomes into keratinocytes, where they are needed for normal skin pigmentation. This disruption of melanosome transport is thought to cause the pigmentation abnormalities seen in individuals with Dowling-Degos disease.

Some people with Dowling-Degos disease do not have an identified mutation in the KRT5 gene. In these cases, the cause of the condition is unknown.

Related Gene(s)

Changes in this gene are associated with Dowling-Degos disease.

  • KRT5

How do people inherit Dowling-Degos disease?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In most cases, an affected person has one parent with the condition.

Where can I find information about diagnosis or management of Dowling-Degos disease?

These resources address the diagnosis or management of Dowling-Degos disease and may include treatment providers.

  • Cleveland Clinic: Skin Care Concerns (http://my.clevelandclinic.org/health/diseases_conditions/hic_Skin_Care_Concerns)
  • Genetic Testing Registry: Reticulate acropigmentation of Kitamura (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0406811)

You might also find information on the diagnosis or management of Dowling-Degos disease in Educational resources (http://www.ghr.nlm.nih.gov/condition/dowling-degos-disease/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/dowling-degos-disease/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Dowling-Degos disease?

You may find the following resources about Dowling-Degos disease helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Dowling-Degos disease?

  • dark dot disease
  • DDD
  • Dowling-Degos-Kitamura disease
  • reticular pigment anomaly of flexures
  • reticulate acropigmentation of Kitamura

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Dowling-Degos disease?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Dowling-Degos disease?

acne ; autosomal ; autosomal dominant ; breakdown ; cell ; cysts ; epidermis ; gene ; groin ; hair follicle ; inherited ; intermediate filaments ; keratin ; melanin ; melanosome ; mutation ; pigment ; pigmentation ; prevalence ; protein ; reticulate ; scrotum ; skin pigmentation

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Batycka-Baran A, Baran W, Hryncewicz-Gwozdz A, Burgdorf W. Dowling-Degos disease: case report and review of the literature. Dermatology. 2010;220(3):254-8. doi: 10.1159/000278349. Epub 2010 Mar 20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20332593?dopt=Abstract)
  • Betz RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, Van Den Bogaert K, Wenzel J, Braun-Falco M, Rutten A, Rogers MA, Ruzicka T, Nöthen MM, Magin TM, Kruse R. Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. Am J Hum Genet. 2006 Mar;78(3):510-9. Epub 2006 Jan 19. (http://www.ncbi.nlm.nih.gov/pubmed/16465624?dopt=Abstract)
  • Bhagwat PV, Tophakhane RS, Shashikumar BM, Noronha TM, Naidu V. Three cases of Dowling Degos disease in two families. Indian J Dermatol Venereol Leprol. 2009 Jul-Aug;75(4):398-400. doi: 10.4103/0378-6323.53139. (http://www.ncbi.nlm.nih.gov/pubmed/19584468?dopt=Abstract)
  • Hanneken S, Rütten A, Pasternack SM, Eigelshoven S, El Shabrawi-Caelen L, Wenzel J, Braun-Falco M, Ruzicka T, Nöthen MM, Kruse R, Betz RC. Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. Br J Dermatol. 2010 Jul;163(1):197-200. doi: 10.1111/j.1365-2133.2010.09741.x. Epub 2010 Mar 5. (http://www.ncbi.nlm.nih.gov/pubmed/20222933?dopt=Abstract)
  • Schmieder A, Pasternack SM, Krahl D, Betz RC, Leverkus M. Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: additional genetic evidence in a German family. J Am Acad Dermatol. 2012 Jun;66(6):e250-1. doi: 10.1016/j.jaad.2011.07.038. (http://www.ncbi.nlm.nih.gov/pubmed/22583733?dopt=Abstract)
  • Wu YH, Lin YC. Generalized Dowling-Degos disease. J Am Acad Dermatol. 2007 Aug;57(2):327-34. (http://www.ncbi.nlm.nih.gov/pubmed/17637446?dopt=Abstract)
  • Zimmermann CC, Sforza D, Macedo PM, Azulay-Abulafia L, Alves Mde F, Carneiro SC. Dowling-Degos disease: classic clinical and histopathological presentation. An Bras Dermatol. 2011 Sep-Oct;86(5):979-82. English, Portuguese. (http://www.ncbi.nlm.nih.gov/pubmed/22147038?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2012
Published: November 24, 2014