DDD
MCID: DWL001
MIFTS: 42

Dowling-Degos Disease (DDD) malady

Genetic diseases, Rare diseases, Skin diseases categories
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Summaries for Dowling-Degos Disease

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21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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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 dowling-degos disease 2 and degos disease. An important gene associated with Dowling-Degos Disease is ADAM10 (ADAM metallopeptidase domain 10), and among its related pathways are Notch signaling pathway and Pre-NOTCH Expression and Processing. Affiliated tissues include skin, and related mouse phenotypes are cardiovascular system and embryogenesis.

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

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21Genetics Home Reference, 43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 49 
Rare skin diseases


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 62
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 Orphanet59 239133004
UMLS via Orphanet63 C0406811

Related Diseases for Dowling-Degos Disease

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Dowling-Degos Disease:



Diseases related to dowling-degos disease

Symptoms for Dowling-Degos Disease

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47OMIM
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Symptoms by clinical synopsis from OMIM:

615537

Clinical features from OMIM:

615537

Drugs & Therapeutics for Dowling-Degos Disease

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Dowling-Degos Disease

Search NIH Clinical Center for Dowling-Degos Disease

Genetic Tests for Dowling-Degos Disease

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22GTR
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Genetic tests related to Dowling-Degos Disease:

id Genetic test Affiliating Genes
1 Reticulate Acropigmentation of Kitamura22

Anatomical Context for Dowling-Degos Disease

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33MalaCards
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MalaCards organs/tissues related to Dowling-Degos Disease:

33
Skin

Animal Models for Dowling-Degos Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Dowling-Degos Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.6ADAM10, POGLUT1, POFUT1
2MP:00053808.3POFUT1, POGLUT1, ADAM10
3MP:00107688.0KRT5, ADAM10, POGLUT1, POFUT1

Publications for Dowling-Degos Disease

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52PubMed
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Articles related to Dowling-Degos Disease:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
Dowling-Degos disease with diffuse penile pigmentation. (24422879)
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
A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease. (21569119)
2012
6
Presentation of reticulate acropigmentation of kitamura and dowling-degos disease overlap. (22808308)
2012
7
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: additional genetic evidence in a German family. (22583733)
2012
8
Galli-galli disease: a rare acantholytic variant of dowling-degos disease. (21629813)
2011
9
Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. (21416772)
2011
10
Dowling-Degos disease involving the vulva and back: case report and review of the literature. (21810386)
2011
11
Dowling-Degos disease: classic clinical and histopathological presentation. (22147038)
2011
12
Unique brown star shape on dermatoscopy of generalized Dowling-Degos disease. (21605106)
2011
13
Dowling-Degos disease presenting as hypopigmented macules. (21571208)
2011
14
Coexistence of vulvar dowling-degos disease and seborrhoeic keratosis. (21941561)
2011
15
Dowling-Degos disease. (20191141)
2010
16
Case for diagnosis. Dowling-Degos disease. (20520945)
2010
17
Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. (20222933)
2010
18
Haber's syndrome may be a clinical entity different from Dowling-Degos disease. (19067693)
2009
19
Three cases of Dowling Degos disease in two families. (19584468)
2009
20
Spotted and rippled reticulate hypermelanosis: a possible variant of Dowling-Degos disease. (17199603)
2007
21
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease. (17300252)
2007
22
Dowling-Degos disease with asymmetrical axillary distribution and no KRT 5 exon 1 mutation. (17989904)
2007
23
A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. (16917491)
2007
24
Generalized Dowling-Degos disease. (17637446)
2007
25
Atypical presentation of Dowling-Degos disease. (16987294)
2006
26
Loss-of-function mutations in the keratin 5 gene lead to Dowling- Degos disease. (16465624)
2006
27
Dowling-Degos disease with dyschromatosis universalis hereditaria-like pigmentation in a family. (15482301)
2004
28
Treatment of Dowling-Degos disease with Er:YAG-laser: results after 2.5 years. (14641349)
2003
29
Reticulate acropigmentation of Kitamura-Dowling Degos disease overlap: a case report. (12207773)
2002
30
Successful treatment of Dowling-Degos disease with Er:YAG laser. (12174072)
2002
31
Dowling-Degos disease associated with squamous cell carcinomas on the dappled pigmentation. (12207603)
2002
32
Dowling-Degos disease--a heat aggravated variant. (11488720)
2001
33
Galli-Galli disease: an unrecognized entity or an acantholytic variant of Dowling-Degos disease? (11606930)
2001
34
Dowling-Degos disease affecting the vulva. (11501660)
2001
35
A case of Dowling-Degos disease suggesting an evolutional sequence. (11052235)
2000
36
Evolution of Dowling Degos disease. (11211801)
2000
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 associated with hidradenitis suppurativa. (8959907)
1996
41
Dowling-Degos' disease mimicking chloracne. (1387658)
1992
42
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
43
Dowling-Degos disease and Kitamura's reticulate acropigmentation: support for the concept of a single disease. (1911300)
1991
44
A family with Dowling Degos disease showing features of Kitamura's reticulate acropigmentation. (2713264)
1989
45
Haber's syndrome and Dowling-Degos disease. (2966131)
1988
46
The spectrum of Dowling-Degos disease. (6232941)
1984
47
The broad spectrum of Dowling Degos disease, including Haber's syndrome--a hereditary abnormal reactivity to stimulation, increasing with age?--Case reports and management. (6366012)
1983
48
Is Dowling-Degos disease the same disease as Kitamura's reticulate acropigmentation? (6860566)
1983
49
Haber's syndrome or Dowling-Degos disease? (6847213)
1983
50
Ultrastructure of early pigmentary changes in Dowling-Degos' disease. (7372882)
1980

Variations for Dowling-Degos Disease

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Dowling-Degos Disease:

64
id Symbol AA change Variation ID SNP ID
1ADAM10p.Pro139SerVAR_070907
2ADAM10p.Cys524TyrVAR_070910

Clinvar genetic disease variations for Dowling-Degos Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1KRT5NM_000424.3(KRT5): c.14C> A (p.Ser5Ter)single nucleotide variantPathogenicrs58751565GRCh37Chr 12, 52914067: 52914067
2ADAM10NM_001110.3(ADAM10): c.415C> T (p.Pro139Ser)single nucleotide variantPathogenicrs483352912GRCh37Chr 15, 58971392: 58971392
3ADAM10NM_001110.3(ADAM10): c.1511G> A (p.Ser504Asn)single nucleotide variantPathogenicrs483352913GRCh37Chr 15, 58913670: 58913670
4ADAM10NM_001110.3(ADAM10): c.429T> A (p.Tyr143Ter)single nucleotide variantPathogenicrs483352914GRCh37Chr 15, 58971378: 58971378
5ADAM10NM_001110.3(ADAM10): c.1264delA (p.Thr422Hisfs)deletionPathogenicrs483352915GRCh37Chr 15, 58919995: 58919995
6ADAM10NM_001110.3(ADAM10): c.1571G> A (p.Cys524Tyr)single nucleotide variantPathogenicrs483352916GRCh37Chr 15, 58904131: 58904131

Expression for genes affiliated with Dowling-Degos Disease

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dowling-Degos Disease

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Pathways for genes affiliated with Dowling-Degos Disease

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50PathCards, 30KEGG, 55Reactome, 38NCBI BioSystems Database, 53QIAGEN
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Compounds for genes affiliated with Dowling-Degos Disease

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GO Terms for genes affiliated with Dowling-Degos Disease

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16Gene Ontology
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Biological processes related to Dowling-Degos Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein O-linked glycosylationGO:0064939.0POGLUT1, POFUT1
2Notch signaling pathwayGO:0072198.3ADAM10, POGLUT1, POFUT1

Products for genes affiliated with Dowling-Degos Disease

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Sources for Dowling-Degos Disease

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet