DDD
MCID: DWL001
MIFTS: 35

Dowling-Degos Disease (DDD) malady

Skin category

Summaries for Dowling-Degos Disease

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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. last updated: 2/4/2013

MalaCards: Dowling-Degos Disease, also known as reticulate acropigmentation of kitamura, is related to degos disease and hidradenitis suppurativa. An important gene associated with Dowling-Degos Disease is ADAM10 (ADAM metallopeptidase domain 10). The compound retinoic acid have been mentioned in the context of this disorder. Affiliated tissues include skin and t cells, and related mouse phenotypes are digestive/alimentary and craniofacial.

Genetics Home Reference:21 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.

Description from OMIM:47 615537

Aliases & Classifications for Dowling-Degos Disease

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin


Characteristics (Orphanet epidemiological data):

49
reticulate acropigmentation of kitamura:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

dowling-degos disease 43 21
reticulate acropigmentation of kitamura 43 22 21 47 49 61
reticular pigment anomaly of flexures 43 21
kitamura reticulate acropigmentation 43
dowling-degos kitamura disease 43
dowling-degos-kitamura disease 21
dark dot disease 21
rapk 49
ddd 21


External Ids:

OMIM47 615537
ICD10 via Orphanet26 L81.8
SNOMED-CT via Orphanet58 239133004
UMLS via Orphanet62 C0406811

Related Diseases for Dowling-Degos Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Dowling-Degos Disease:



Diseases related to dowling-degos disease

Clinical Features for Dowling-Degos Disease

Sources:
47OMIM
See all sources

Clinical features from OMIM:

615537

Clinical synopsis from OMIM:

615537

Drugs & Therapeutics for Dowling-Degos Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Dowling-Degos Disease

Drug clinical trials:

Search ClinicalTrials for Dowling-Degos Disease

Search NIH Clinical Center for Dowling-Degos Disease

Search CenterWatch for Dowling-Degos Disease

Genetic Tests for Dowling-Degos Disease

Sources:
22GTR
See all sources

Genetic tests related to Dowling-Degos Disease:

id Genetic test Affiliating Genes
1 Reticulate Acropigmentation Of Kitamura22

Anatomical Context for Dowling-Degos Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Dowling-Degos Disease:

33
Skin, T cells

Animal Models for Dowling-Degos Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Dowling-Degos Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.1ADAM10, KRT5
2MP:00053828.8ADAM10, KRT5

Publications for Dowling-Degos Disease

Sources:
51PubMed
See all sources

Articles related to Dowling-Degos Disease:

(show top 50)    (show all 68)
idTitleAuthorsYear
1
Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. (24387993)
2014
2
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. (23684010)
2013
3
Treatment of Dowling-Degos disease with fractional Er:YAG laser. (23464495)
2013
4
Generalized dowling-degos disease: case reports. (24003282)
2013
5
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease. (23666529)
2013
6
Follicular Dowling Degos disease: a rare variant of an evolving dermatosis. (24177614)
2013
7
A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease. (21569119)
2012
8
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: additional genetic evidence in a German family. (22583733)
2012
9
Galli-galli disease: a rare acantholytic variant of dowling-degos disease. (21629813)
2011
10
Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. (21416772)
2011
11
Dowling-Degos disease involving the vulva and back: case report and review of the literature. (21810386)
2011
12
Coexistence of vulvar dowling-degos disease and seborrhoeic keratosis. (21941561)
2011
13
Dowling-Degos disease. (20191141)
2010
14
Case for diagnosis. Dowling-Degos disease. (20520945)
2010
15
Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. (20222933)
2010
16
Dowling-Degos disease: case report and review of the literature. (20332593)
2010
17
Haber's syndrome may be a clinical entity different from Dowling-Degos disease. (19067693)
2009
18
Dermoscopy of Dowling-Degos disease of the vulva. (18347308)
2008
19
Spotted and rippled reticulate hypermelanosis: a possible variant of Dowling-Degos disease. (17199603)
2007
20
Dowling-Degos disease with asymmetrical axillary distribution and no KRT 5 exon 1 mutation. (17989904)
2007
21
A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. (16917491)
2007
22
Generalized Dowling-Degos disease. (17637446)
2007
23
Loss-of-function mutations in the keratin 5 gene lead to Dowling- Degos disease. (16465624)
2006
24
Dowling-Degos disease, hidradenitis suppurativa and arthritis in mother and daughter. (16681601)
2006
25
A study of immunohistochemical and electron microscopic changes in Dowling-Degos disease. (15841654)
2005
26
Treatment of Dowling-Degos disease with Er:YAG-laser: results after 2.5 years. (14641349)
2003
27
Reticulate acropigmentation of Kitamura-Dowling Degos disease overlap: a case report. (12207773)
2002
28
Successful treatment of Dowling-Degos disease with Er:YAG laser. (12174072)
2002
29
Dowling-Degos disease associated with squamous cell carcinomas on the dappled pigmentation. (12207603)
2002
30
Dowling-Degos disease--a heat aggravated variant. (11488720)
2001
31
Galli-Galli disease: an unrecognized entity or an acantholytic variant of Dowling-Degos disease? (11606930)
2001
32
Dowling-Degos disease affecting the vulva. (11501660)
2001
33
A case of Dowling-Degos disease suggesting an evolutional sequence. (11052235)
2000
34
Effectiveness of topical adapalene in Dowling-Degos disease. (10325472)
1999
35
Dowling-Degos disease (reticulate pigmented anomaly of the flexures): a clinical and histopathologic study of 6 cases. (10071319)
1999
36
Overlap of reticulate acropigmentation of Kitamura, acropigmentation of Dohi and Dowling-Degos disease in four generations. (9621148)
1998
37
Hidradenitis suppurativa, Dowling Degos disease and perianal squamous cell carcinoma. (9431718)
1997
38
Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients. (9529553)
1997
39
Dowling-degos disease. (20947961)
1996
40
Dowling-Degos disease, hidradenitis suppurativa, and multiple keratoacanthomas. A disorder that may be caused by a single underlying defect in pilosebaceous epithelial proliferation. (2050858)
1991
41
Dowling-Degos disease and Kitamura's reticulate acropigmentation: support for the concept of a single disease. (1911300)
1991
42
Reticulate nonmelanocytic hyperpigmentation anomaly. A probable variant of Dowling-Degos disease. (1993563)
1991
43
A family with Dowling Degos disease showing features of Kitamura's reticulate acropigmentation. (2713264)
1989
44
Haber's syndrome and Dowling-Degos disease. (2966131)
1988
45
The spectrum of Dowling-Degos disease. (6232941)
1984
46
Is Dowling-Degos disease the same disease as Kitamura's reticulate acropigmentation? (6860566)
1983
47
Haber's syndrome or Dowling-Degos disease? (6847213)
1983
48
Dowling-Degos disease (reticulate pigmented anomaly of the flexures) is an autosomal dominant condition. (6838773)
1983
49
Haber's syndrome or Dowling-Degos disease? (7065676)
1982
50
Ultrastructure of early pigmentary changes in Dowling-Degos' disease. (7372882)
1980

Genetic Variations for Dowling-Degos Disease

Expression for genes affiliated with Dowling-Degos Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Dowling-Degos Disease

Search GEO for disease gene expression data for Dowling-Degos Disease.

Pathways for genes affiliated with Dowling-Degos Disease

Compounds for genes affiliated with Dowling-Degos Disease

Sources:
45Novoseek, 24HMDB
See all sources

Compounds related to Dowling-Degos Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1retinoic acid45 2410.1ADAM10, KRT5

GO Terms for genes affiliated with Dowling-Degos Disease

Products for genes affiliated with Dowling-Degos Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dowling-Degos Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet