MCID: DWL001
MIFTS: 43

Dowling-Degos Disease

Categories: Rare diseases, Genetic diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Dowling-Degos Disease

MalaCards integrated aliases for Dowling-Degos Disease:

Name: Dowling-Degos Disease 12 49 24 55 36 13 41 14 69
Reticular Pigment Anomaly of Flexures 12 49 24 55
Reticulate Acropigmentation of Kitamura 49 69
Dark Dot Disease 12 24
Reticular Pigmented Anomaly of Flexures 24
Kitamura Reticulate Acropigmentation 49
Dowling-Degos Kitamura Disease 49
Dowling-Degos-Kitamura Disease 24
Ddd 24

Characteristics:

Orphanet epidemiological data:

55
dowling-degos disease
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060256
MeSH 41 C562924
SNOMED-CT 64 239133004
Orphanet 55 ORPHA79145
UMLS via Orphanet 70 C3714534
ICD10 via Orphanet 33 L81.8
KEGG 36 H00944

Summaries for Dowling-Degos Disease

NIH Rare Diseases : 49 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 based summary : Dowling-Degos Disease, also known as reticular pigment anomaly of flexures, is related to hidradenitis suppurativa and hidradenitis. An important gene associated with Dowling-Degos Disease is KRT5 (Keratin 5), and among its related pathways/superpathways are Other types of O-glycan biosynthesis and Developmental Biology. Affiliated tissues include skin, and related phenotypes are cardiovascular system and growth/size/body region

Disease Ontology : 12 A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.

Genetics Home Reference : 24 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, back of the knee, and under the breasts. Less commonly, pigmentation changes can also occur on the neck, wrists, back of the hands, face, scalp, scrotum, and vulva. These areas of hyperpigmentation typically cause no health problems.

Related Diseases for Dowling-Degos Disease

Diseases in the Dowling-Degos Disease family:

Dowling-Degos Disease 1 Dowling-Degos Disease 2
Dowling-Degos Disease 3 Dowling-Degos Disease 4

Diseases related to Dowling-Degos Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 hidradenitis suppurativa 30.7 DSC2 KRT14 NCSTN PSENEN
2 hidradenitis 30.7 DSC2 KRT14 NCSTN PSENEN
3 reticulate acropigmentation of kitamura 30.7 ADAM10 ADAR DKC1 KRT14 POFUT1
4 dowling-degos disease 1 12.8
5 dowling-degos disease 2 12.6
6 dowling-degos disease 4 12.6
7 acne inversa, familial, 2, with or without dowling-degos disease 12.6
8 dowling-degos disease 3 12.3
9 malignant atrophic papulosis 11.1
10 epidermolysis bullosa simplex, autosomal recessive 1 10.4 KRT14 KRT5
11 benign breast adenomyoepithelioma 10.4 KRT14 KRT5
12 epidermolysis bullosa simplex, localized 10.4 KRT14 KRT5
13 lichen planopilaris 10.4 KRT14 KRT5
14 keratosis 10.4
15 epidermolysis bullosa simplex, generalized 10.4 KRT14 KRT5
16 large cell acanthoma 10.3 KRT14 KRT5
17 apocrine sweat gland neoplasm 10.3 KRT14 KRT5
18 breast adenomyoepithelioma 10.3 KRT14 KRT5
19 transverse colon cancer 10.3 DSC2 DSC3
20 squamous cell carcinoma 10.3
21 breast myoepithelial neoplasm 10.3 KRT14 KRT5
22 epidermolysis bullosa simplex with mottled pigmentation 10.2 ATP2A2 KRT14 KRT5
23 breast squamous cell carcinoma 10.2 KRT14 KRT5
24 ichthyosis bullosa of siemens 10.2 ATP2A2 KRT14 KRT5
25 lacrimal gland adenoid cystic carcinoma 10.1 NOTCH1 NOTCH2
26 dilution, pigmentary 10.1
27 acne inversa, familial, 1 10.1
28 aging 10.1
29 acne inversa, familial, 3 10.1
30 arthritis 10.1
31 dyschromatosis universalis hereditaria 10.1
32 melanoma 10.1
33 keratoacanthoma 10.1
34 subcorneal pustular dermatosis 10.1 ATP2A2 DSC2 DSC3
35 odontoma 10.1 KRT14 KRT5
36 sweat gland disease 10.1 KRT14 NCSTN PSENEN
37 nodular regenerative hyperplasia 10.1 NOTCH1 NOTCH2
38 adermatoglyphia 10.0 DKC1 KRT14
39 pigmented basal cell carcinoma 9.9 KRT14 TYR
40 dyschromatosis symmetrica hereditaria 9.8 ADAR PKLR TYR
41 anal canal squamous cell carcinoma 9.8 ENSG00000188223 KRT5 NCSTN PSENEN
42 pigmentation disease 9.8 ADAR POFUT1 POGLUT1 TYR
43 skin disease 9.7 ATP2A2 KRT14 KRT5

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



Diseases related to Dowling-Degos Disease

Symptoms & Phenotypes for Dowling-Degos Disease

MGI Mouse Phenotypes related to Dowling-Degos Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.16 ADAR ATP2A2 DSC2 NCSTN NOTCH1 NOTCH2
2 growth/size/body region MP:0005378 10.15 POGLUT1 TYR ADAM10 ADAR ATP2A2 DKC1
3 embryo MP:0005380 10.1 ADAM10 ADAR ATP2A2 DKC1 NCSTN NOTCH1
4 immune system MP:0005387 10.06 ADAM10 ADAR ATP2A2 DKC1 KRT14 NCSTN
5 mortality/aging MP:0010768 10.03 TYR ADAM10 ADAR ATP2A2 DKC1 DSC3
6 integument MP:0010771 10 ADAR ATP2A2 DKC1 DSC3 KRT14 KRT5
7 craniofacial MP:0005382 9.98 NOTCH1 NOTCH2 TYR ADAM10 KRT14 KRT5
8 neoplasm MP:0002006 9.5 ATP2A2 DKC1 KRT14 NCSTN NOTCH1 NOTCH2
9 normal MP:0002873 9.23 ADAM10 DKC1 DSC3 NCSTN NOTCH1 NOTCH2

Drugs & Therapeutics for Dowling-Degos Disease

Search Clinical Trials , NIH Clinical Center for Dowling-Degos Disease

Cochrane evidence based reviews: dowling-degos disease

Genetic Tests for Dowling-Degos Disease

Anatomical Context for Dowling-Degos Disease

MalaCards organs/tissues related to Dowling-Degos Disease:

38
Skin

Publications for Dowling-Degos Disease

Articles related to Dowling-Degos Disease:

(show top 50) (show all 97)
# Title Authors Year
1
Concurrent hidradenitis suppurativa and Dowling-Degos disease taken down a 'Notch'. ( 29441533 )
2018
2
Generalized Dowling-Degos disease with hypopigmented lesions: A diagnostic challenge. ( 29176251 )
2018
3
Dowling-Degos disease with mutation in the exon 1 of the keratin 5 gene. ( 28646612 )
2017
4
A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN. ( 28922471 )
2017
5
Successful Management of Dowling-Degos Disease with Combination of Q-switched Nd: YAG and Fractional Carbon Dioxide Laser. ( 28529428 )
2017
6
PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) andA Dowling-Degos Disease (DDD): IsA AIA orA DDD the Subphenotype? ( 28601418 )
2017
7
Mutations in I^-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. ( 28287404 )
2017
8
Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling Degos Disease firm up a role for Notch signalling in the pathogenesis of this disorder: reply from authors. ( 29274076 )
2017
9
Follicular Dowling-Degos Disease: A Rare Pigmentary Dermatosis. ( 29204397 )
2017
10
Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling-Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder. ( 29274243 )
2017
11
Dowling-Degos disease with reticulate acropigmentation of Kitamura: Extended spectrum of a single entity. ( 26955585 )
2016
12
Atypical cases of Dowling-Degos disease. ( 27057490 )
2016
13
Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. ( 27479915 )
2016
14
Dermatoscopic Features of Hyper and Hypopigmented Lesions of Dowling Degos Disease. ( 26955155 )
2016
15
Coexistence of Reticulate Acropigmentation of Kitamura and Dowling-Degos Disease. ( 29210541 )
2016
16
Dowling-Degos disease co-presenting with Darier disease. ( 26685052 )
2016
17
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease. ( 27900998 )
2016
18
Dowling-Degos disease and malignant melanoma: Association or mere coincidence? ( 26515850 )
2015
19
Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease. ( 26486618 )
2015
20
Dowling-Degos disease with mutations in POFUT1 is clinico-pathologically distinct from reticulate acropigmentation of Kitamura. ( 25639155 )
2015
21
Genome-wide linkage and exome sequencing analyses identify a initiation codon mutation of KRT5 in a unique Chinese generalized Dowling-Degos disease family. ( 26440693 )
2015
22
Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura. ( 25229252 )
2014
23
A case of reticulate acropigmentation of kitamura: dowling degos disease overlap with unusual clinical manifestations. ( 24891663 )
2014
24
Dowling-Degos disease with diffuse penile pigmentation. ( 24422879 )
2014
25
The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family. ( 25284854 )
2014
26
Association of Dowling-Degos disease and multiple seborrheic keratosis in a "Christmas tree pattern". ( 25405133 )
2014
27
Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease. ( 25157627 )
2014
28
Successful treatment of Dowling-Degos disease using intense pulsed light. ( 25495801 )
2014
29
Dowling-Degos Disease Associated With Hidradenitis Suppurativa: A Case Report. ( 25529465 )
2014
30
Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. ( 24387993 )
2014
31
Generalized dowling-degos disease: case reports. ( 24003282 )
2013
32
Follicular Dowling Degos disease: a rare variant of an evolving dermatosis. ( 24177614 )
2013
33
Dowling-Degos disease and hidradenitis suppurativa: Co occurrence or association? ( 23984231 )
2013
34
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease. ( 23666529 )
2013
35
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. ( 23684010 )
2013
36
Treatment of Dowling-Degos disease with fractional Er:YAG laser. ( 23464495 )
2013
37
A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease. ( 21569119 )
2012
38
Presentation of reticulate acropigmentation of kitamura and dowling-degos disease overlap. ( 22808308 )
2012
39
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: additional genetic evidence in a German family. ( 22583733 )
2012
40
Coexistence of vulvar dowling-degos disease and seborrhoeic keratosis. ( 21941561 )
2011
41
Dowling-Degos disease: classic clinical and histopathological presentation. ( 22147038 )
2011
42
Coexistence of reticulate acropigmentation of Kitamura and Dowling-Degos disease. ( 25386285 )
2011
43
Dowling-Degos disease presenting as hypopigmented macules. ( 21571208 )
2011
44
Galli-galli disease: a rare acantholytic variant of dowling-degos disease. ( 21629813 )
2011
45
A case of dowling-degos disease on the vulva. ( 21747621 )
2011
46
Dowling-Degos disease involving the vulva and back: case report and review of the literature. ( 21810386 )
2011
47
Unique brown star shape on dermatoscopy of generalized Dowling-Degos disease. ( 21605106 )
2011
48
Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. ( 21416772 )
2011
49
Dowling-Degos disease: case report and review of the literature. ( 20332593 )
2010
50
Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. ( 20222933 )
2010

Variations for Dowling-Degos Disease

ClinVar genetic disease variations for Dowling-Degos Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT5 NM_000424.3(KRT5): c.14C> A (p.Ser5Ter) single nucleotide variant Pathogenic rs58751565 GRCh37 Chromosome 12, 52914067: 52914067
2 KRT5 KRT5, 1-BP DUP, 418A duplication Pathogenic
3 ADAM10 NM_001110.3(ADAM10): c.415C> T (p.Pro139Ser) single nucleotide variant Pathogenic rs483352912 GRCh37 Chromosome 15, 58971392: 58971392
4 ADAM10 NM_001110.3(ADAM10): c.1511G> A (p.Ser504Asn) single nucleotide variant Pathogenic rs483352913 GRCh37 Chromosome 15, 58913670: 58913670
5 ADAM10 NM_001110.3(ADAM10): c.429T> A (p.Tyr143Ter) single nucleotide variant Pathogenic rs483352914 GRCh37 Chromosome 15, 58971378: 58971378
6 ADAM10 NM_001110.3(ADAM10): c.1264delA (p.Thr422Hisfs) deletion Pathogenic rs483352915 GRCh37 Chromosome 15, 58919995: 58919995
7 ADAM10 NM_001110.3(ADAM10): c.1571G> A (p.Cys524Tyr) single nucleotide variant Pathogenic rs483352916 GRCh37 Chromosome 15, 58904131: 58904131

Expression for Dowling-Degos Disease

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

Pathways for Dowling-Degos Disease

Pathways related to Dowling-Degos Disease according to KEGG:

36
# Name Kegg Source Accession
1 Other types of O-glycan biosynthesis hsa00514

Pathways related to Dowling-Degos Disease according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.28 ADAM10 DSC2 DSC3 HSPA8 KRT14 KRT5
2
Show member pathways
12.42 ADAM10 NCSTN NOTCH1 NOTCH2 POFUT1 PSENEN
3 12.39 NCSTN NOTCH1 NOTCH2 PSENEN
4
Show member pathways
12.28 DSC2 DSC3 KRT14 KRT5
5 12.07 NCSTN NOTCH1 NOTCH2 PSENEN
6
Show member pathways
11.96 ADAM10 ATP2A2 NCSTN NOTCH1 NOTCH2 POFUT1
7 11.93 NCSTN NOTCH1 NOTCH2 PSENEN
8
Show member pathways
11.87 ADAM10 NCSTN NOTCH1 NOTCH2 PSENEN
9 11.79 ATP2A2 NOTCH1 NOTCH2
10
Show member pathways
11.65 ATP2A2 NOTCH1 NOTCH2 POFUT1 POGLUT1
11 11.41 ADAM10 NCSTN PSENEN
12 11.22 ADAM10 NCSTN NOTCH1 PSENEN
13 11.06 ADAM10 NOTCH1 NOTCH2
14 10.97 ADAM10 NCSTN PSENEN
15 10.91 POFUT1 POGLUT1
16 10.79 ADAM10 NOTCH1 NOTCH2 POFUT1
17 10.77 NCSTN PSENEN

GO Terms for Dowling-Degos Disease

Cellular components related to Dowling-Degos Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.83 ADAM10 ADAR ATP2A2 DKC1 DSC2 DSC3
2 melanosome GO:0042470 9.43 HSPA8 NCSTN TYR
3 Golgi-associated vesicle GO:0005798 9.16 ADAM10 TYR
4 gamma-secretase complex GO:0070765 8.8 ENSG00000188223 NCSTN PSENEN

Biological processes related to Dowling-Degos Disease according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.8 DSC2 DSC3 KRT14 KRT5
2 cornification GO:0070268 9.71 DSC2 DSC3 KRT14 KRT5
3 epidermis development GO:0008544 9.67 ATP2A2 KRT14 KRT5 NOTCH1
4 protein processing GO:0016485 9.65 ADAM10 NCSTN PSENEN
5 positive regulation of Ras protein signal transduction GO:0046579 9.58 NOTCH1 NOTCH2
6 membrane protein intracellular domain proteolysis GO:0031293 9.57 NCSTN PSENEN
7 amyloid precursor protein metabolic process GO:0042982 9.56 NCSTN PSENEN
8 hemidesmosome assembly GO:0031581 9.55 KRT14 KRT5
9 pulmonary valve morphogenesis GO:0003184 9.54 NOTCH1 NOTCH2
10 Notch signaling involved in heart development GO:0061314 9.52 NOTCH1 NOTCH2
11 amyloid precursor protein catabolic process GO:0042987 9.51 NCSTN PSENEN
12 amyloid-beta formation GO:0034205 9.46 NCSTN PSENEN
13 regulation of developmental process GO:0050793 9.43 NOTCH1 NOTCH2
14 membrane protein ectodomain proteolysis GO:0006509 9.43 ADAM10 NCSTN PSENEN
15 Notch receptor processing GO:0007220 9.33 ADAM10 NCSTN PSENEN
16 negative regulation of growth rate GO:0045967 9.32 NOTCH1 NOTCH2
17 regulation of Notch signaling pathway GO:0008593 9.13 NOTCH1 POFUT1 POGLUT1
18 Notch signaling pathway GO:0007219 9.1 ADAM10 NCSTN NOTCH1 NOTCH2 POFUT1 PSENEN

Sources for Dowling-Degos Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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