DDD
MCID: DWL001
MIFTS: 42

Dowling-Degos Disease (DDD)

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

Aliases & Classifications for Dowling-Degos Disease

MalaCards integrated aliases for Dowling-Degos Disease:

Name: Dowling-Degos Disease 12 52 25 58 36 43 15 71
Reticular Pigment Anomaly of Flexures 12 52 25 58
Reticulate Acropigmentation of Kitamura 52 71
Dark Dot Disease 12 25
Reticular Pigmented Anomaly of Flexures 25
Kitamura Reticulate Acropigmentation 52
Dowling-Degos Kitamura Disease 52
Dowling-Degos-Kitamura Disease 25
Ddd 25

Characteristics:

Orphanet epidemiological data:

58
dowling-degos disease
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare skin diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0060256
KEGG 36 H00944
MeSH 43 C562924
ICD10 via Orphanet 33 L81.8
UMLS via Orphanet 72 C3714534
Orphanet 58 ORPHA79145
UMLS 71 C0406811 C3714534

Summaries for Dowling-Degos Disease

Genetics Home Reference : 25 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. Individuals with Dowling-Degos disease may also have dark spots (lesions) on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, or pitted scars on the face similar to acne scars but with no history of acne. Fluid-filled sacs 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). In rare cases, individuals with Dowling-Degos disease experience itching (pruritus) or burning sensations on the skin. These feelings can be triggered by UV light, sweating, or friction on the skin. 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 associated with Dowling-Degos disease may cause distress or anxiety, they typically cause no other 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 and lead to reddened or missing patches of skin (erosions). These conditions used to be considered two separate disorders, but Galli-Galli disease and Dowling-Degos disease are now regarded as the same condition.

MalaCards based summary : Dowling-Degos Disease, also known as reticular pigment anomaly of flexures, is related to anal canal squamous cell carcinoma and dyschromatosis universalis hereditaria. An important gene associated with Dowling-Degos Disease is POGLUT1 (Protein O-Glucosyltransferase 1), and among its related pathways/superpathways are Other types of O-glycan biosynthesis and Signaling by NOTCH1. Affiliated tissues include skin, breast and heart, and related phenotypes are growth/size/body region and mortality/aging

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

NIH Rare Diseases : 52 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.

KEGG : 36 Dowling-Degos disease is a rare pigmented skin disorder caused by mutations in keratin 5 and protein O-fucosyltransferase 1. Small hyperpigmented macules appear in a clustered or reticulated pattern at flexural sites, such as the neck, axilla, and anticubital fossa. There may be comedo-like papules on the back and pitted scars on perioral or facial regions.

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 top 50) (show all 192)
# Related Disease Score Top Affiliating Genes
1 anal canal squamous cell carcinoma 31.3 PSENEN KRT5
2 dyschromatosis universalis hereditaria 30.9 KRT5 KRT4 DKC1 ADAR ADAM10
3 reticulate acropigmentation of kitamura 30.7 POGLUT1 POFUT1 KRT5 KRT4 KRT14 DKC1
4 dowling-degos disease 2 13.1
5 dowling-degos disease 4 13.1
6 dowling-degos disease 1 13.1
7 acne inversa, familial, 2, with or without dowling-degos disease 13.0
8 dowling-degos disease 3 12.6
9 dense deposit disease 12.1
10 c3 glomerulopathy 11.7
11 membranoproliferative glomerulonephritis 11.7
12 degenerative disc disease 11.5
13 malignant atrophic papulosis 11.4
14 erythrokeratoderma ''en cocardes'' 11.4
15 hidradenitis suppurativa 11.0
16 hidradenitis 10.9
17 atrioventricular block 10.8
18 sick sinus syndrome 10.7
19 neurofibromatosis, type ii 10.7
20 keratosis 10.7
21 rare genetic skin disease 10.7
22 adrenal cortical carcinoma 10.6
23 acanthosis nigricans 10.6
24 epidermolysis bullosa simplex 10.6
25 cloacogenic carcinoma 10.5 KRT5 KRT4
26 adrenocortical carcinoma, hereditary 10.5
27 adrenal cortical adenocarcinoma 10.5
28 benign breast adenomyoepithelioma 10.5 KRT5 KRT14
29 breast adenomyoepithelioma 10.5 KRT5 KRT14
30 epidermoid cysts 10.5
31 lentigines 10.5
32 keratosis, seborrheic 10.5
33 inverted follicular keratosis 10.5
34 pregnancy adenoma 10.5 KRT5 KRT14
35 atrial standstill 1 10.5
36 adult liposarcoma 10.5 NOTCH1 ADAR
37 esophageal basaloid squamous cell carcinoma 10.5 KRT5 KRT14
38 ceruminous adenocarcinoma 10.4 KRT5 KRT14
39 pigmentation disease 10.4 POGLUT1 POFUT1 ADAR
40 breast myoepithelial neoplasm 10.4 KRT5 KRT14
41 nodular regenerative hyperplasia 10.4 NOTCH2 NOTCH1
42 breast metaplastic carcinoma 10.4 KRT5 KRT14
43 epidermolysis bullosa simplex, autosomal recessive 1 10.4 KRT5 KRT14
44 odontoma 10.4 KRT5 KRT14
45 alzheimer disease 10.4
46 lacrimal gland adenoid cystic carcinoma 10.4 NOTCH2 NOTCH1
47 breast myoepithelial carcinoma 10.4 KRT5 KRT14
48 lipid-rich carcinoma 10.4 KRT5 KRT14
49 large cell acanthoma 10.4 KRT5 KRT14
50 eccrine sweat gland neoplasm 10.4 KRT5 KRT14

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.2 ADAM10 ADAR B3GNT2 DKC1 GXYLT1 KRT14
2 mortality/aging MP:0010768 10.06 ADAM10 ADAR ARHGAP31 DKC1 EOGT GXYLT1
3 craniofacial MP:0005382 10.03 ADAM10 B3GNT2 KRT14 KRT4 KRT5 NOTCH1
4 embryo MP:0005380 10.02 ADAM10 ADAR DKC1 LFNG NOTCH1 NOTCH2
5 integument MP:0010771 9.96 ADAM10 ADAR DKC1 KRT14 KRT4 KRT5
6 digestive/alimentary MP:0005381 9.95 ADAM10 KRT14 KRT4 KRT5 NOTCH1 NOTCH2
7 pigmentation MP:0001186 9.35 ADAM10 KRT14 KRT4 NOTCH1 NOTCH2
8 respiratory system MP:0005388 9.17 B3GNT2 DKC1 KRT14 LFNG 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:

40
Skin, Breast, Heart, Pituitary, Liver, Colon, Kidney

Publications for Dowling-Degos Disease

Articles related to Dowling-Degos Disease:

(show top 50) (show all 163)
# Title Authors PMID Year
1
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. 61 6
24387993 2014
2
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. 61 6
23684010 2013
3
[Galli-Galli disease. Clinical and histopathological investigation using a case series of 18 patients]. 61 6
21971768 2011
4
Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. 61 6
20222933 2010
5
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. 61 6
16465624 2006
6
[Dowling-Degos disease--an autosomal dominant genetic dermatosis]. 61 6
3188604 1988
7
Generalized solar lentigines in a patient with a history of radon exposure. 6
20664185 2010
8
Enhanced cytoplasmic expression of desmocollin 3 in epidermal rete ridges of Dowling-Degos syndrome. 6
14674915 2003
9
Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions. 61
31566882 2019
10
Mast cell activation in Dowling-Degos disease. 61
31206596 2019
11
A familial case of Dowling-Degos disease on the vulva. 61
30666695 2019
12
Epidermal keratin 5 expression and distribution is under dermal influence. 61
31692218 2019
13
A case of hidradenitis suppurativa linked to trisomy 1q. 61
31535764 2019
14
Dowling-Degos Disease - A Novel Presentation of An Uncommon Disease. 61
31544084 2019
15
Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature. 61
31120546 2019
16
Atypical Disseminated Variant of Galli-Galli Disease: A Review of the Literature. 61
31449063 2019
17
Classic dowling degos disease: a rare genodermatosis. 61
31195785 2019
18
Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis. 61
30414910 2019
19
Dowling-Degos Disease Presenting Primarily with Comedones and Atrophic Scarring. 61
31700856 2019
20
Full ablative versus fractional ablative laser therapy for Dowling-Degos disease. 61
30281812 2019
21
Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: An update. 61
30692041 2019
22
Hidradenitis suppurativa of the nape: Description of an atypical phenotype related to severe early-onset disease in men. 61
30561771 2019
23
Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1. 61
29797344 2018
24
A case of co-occurence of Dowling-Degos disease and psoriasis: association or a rarely-seen coincidence? 61
30518180 2018
25
A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease. 61
29569780 2018
26
Dowling-Degos Disease Localized on Vulva Mimicking Condyloma Acuminata. 61
30504986 2018
27
Vesicular variant of Dowling-Degos disease. 61
29931677 2018
28
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features. 61
29452367 2018
29
Whole exome sequencing in a multi-generation family from India reveals a genetic variation c.10C>T (p.Gln4Ter) in keratin 5 gene associated with Dowling-Degos disease. 61
29600799 2018
30
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 the authors. 61
29274076 2018
31
Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling-Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder. 61
29274243 2018
32
Concurrent hidradenitis suppurativa and Dowling-Degos disease taken down a 'Notch'. 61
29441533 2018
33
A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN. 61
28922471 2018
34
Generalized Dowling-Degos disease with hypopigmented lesions: A diagnostic challenge. 61
29176251 2018
35
Dowling-Degos disease with mutation in the exon 1 of the keratin 5 gene. 61
28646612 2018
36
[Mutations in presenilin in Dowling-Degos disease: Association with follicular occlusion disorder and the notch-signalling pathway]. 61
29100615 2017
37
Galli-Galli Disease Presenting as a Lentigo-like Eruption: A Further Clinical Feature in the Wide Spectrum of Reticulate Pigment Disorders. 61
30064605 2017
38
Recognizing syndromic hidradenitis suppurativa: a review of the literature. 61
28696038 2017
39
Follicular Dowling-Degos Disease: A Rare Pigmentary Dermatosis. 61
29204397 2017
40
Updated review of genetic reticulate pigmentary disorders. 61
28407215 2017
41
PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the Subphenotype? 61
28601418 2017
42
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. 61
28287404 2017
43
Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. 61
27479915 2017
44
Successful Management of Dowling-Degos Disease with Combination of Q-switched Nd: YAG and Fractional Carbon Dioxide Laser. 61
28529428 2017
45
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease. 61
27900998 2016
46
Dermoscopy in General Dermatology: A Practical Overview. 61
27613297 2016
47
Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease. 61
26486618 2016
48
Structural analysis of Notch-regulating Rumi reveals basis for pathogenic mutations. 61
27428513 2016
49
Dowling-Degos disease co-presenting with Darier disease. 61
26685052 2016
50
[Clinicopathological aspects of terra firma-forme dermatosis]. 61
27062007 2016

Variations for Dowling-Degos Disease

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.6 RFNG PSENEN POGLUT1 POFUT1 NOTCH2 NOTCH1
2
Show member pathways
12.21 RFNG PSENEN POFUT1 NOTCH2 NOTCH1 LFNG
3 12.06 PSENEN NOTCH2 NOTCH1 LFNG
4
Show member pathways
12.01 RFNG PSENEN NOTCH1 LFNG
5
Show member pathways
11.89 PSENEN NOTCH2 NOTCH1 ADAM10
6
Show member pathways
11.73 KRT5 KRT4 KRT14
7
Show member pathways
11.53 RFNG POGLUT1 POFUT1 NOTCH2 NOTCH1 LFNG
8 11.3 PSENEN NOTCH1 ADAM10
9 11.21 POFUT1 NOTCH2 NOTCH1 ADAM10
10
Show member pathways
11.18 XXYLT1 RFNG POGLUT1 POFUT1 LFNG GXYLT1
11 11.1 RFNG NOTCH2 NOTCH1 LFNG
12 11.01 NOTCH2 NOTCH1 ADAM10
13 10.9 PSENEN ADAM10
14 10.55 NOTCH1 LFNG

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 Golgi apparatus GO:0005794 9.17 RFNG PSENEN NOTCH1 LFNG FUT5 B3GNT2
2 keratin filament GO:0045095 9.13 KRT5 KRT4 KRT14

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.81 POGLUT1 POFUT1 FUT5 B3GNT2
2 cornification GO:0070268 9.79 KRT5 KRT4 KRT14
3 epidermis development GO:0008544 9.78 NOTCH1 KRT5 KRT14
4 O-glycan processing GO:0016266 9.67 XXYLT1 POFUT1 GXYLT1 B3GNT2
5 somitogenesis GO:0001756 9.65 POGLUT1 POFUT1 LFNG
6 membrane protein ectodomain proteolysis GO:0006509 9.62 PSENEN ADAM10
7 protein O-linked glycosylation GO:0006493 9.62 POGLUT1 POFUT1 EOGT B3GNT2
8 inflammatory response to antigenic stimulus GO:0002437 9.61 NOTCH2 NOTCH1
9 pulmonary valve morphogenesis GO:0003184 9.6 NOTCH2 NOTCH1
10 left/right axis specification GO:0070986 9.59 NOTCH2 NOTCH1
11 hemidesmosome assembly GO:0031581 9.58 KRT5 KRT14
12 Notch signaling involved in heart development GO:0061314 9.58 NOTCH2 NOTCH1
13 amyloid precursor protein catabolic process GO:0042987 9.57 PSENEN ADAM10
14 marginal zone B cell differentiation GO:0002315 9.56 NOTCH2 LFNG
15 positive regulation of Notch signaling pathway GO:0045747 9.56 RFNG POGLUT1 NOTCH1 LFNG
16 interleukin-4 secretion GO:0072602 9.55 NOTCH2 NOTCH1
17 Notch receptor processing, ligand-dependent GO:0035333 9.54 PSENEN ADAM10
18 amyloid-beta formation GO:0034205 9.52 PSENEN ADAM10
19 regulation of somitogenesis GO:0014807 9.49 NOTCH1 LFNG
20 regulation of developmental process GO:0050793 9.46 NOTCH2 NOTCH1
21 compartment pattern specification GO:0007386 9.43 NOTCH1 LFNG
22 negative regulation of growth rate GO:0045967 9.4 NOTCH2 NOTCH1
23 Notch signaling pathway GO:0007219 9.35 PSENEN POFUT1 NOTCH2 NOTCH1 ADAM10
24 protein O-linked fucosylation GO:0036066 9.33 RFNG POFUT1 LFNG
25 regulation of Notch signaling pathway GO:0008593 9.1 RFNG POGLUT1 POFUT1 NOTCH1 LFNG ADAM10

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.91 XXYLT1 RFNG POGLUT1 POFUT1 LFNG GXYLT1
2 fucosyltransferase activity GO:0008417 9.32 POFUT1 FUT5
3 transferase activity, transferring glycosyl groups GO:0016757 9.28 XXYLT1 RFNG POGLUT1 POFUT1 LFNG GXYLT1
4 O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity GO:0033829 9.16 RFNG LFNG
5 UDP-xylosyltransferase activity GO:0035252 9.13 XXYLT1 POGLUT1 GXYLT1

Sources for Dowling-Degos Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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