DDD
MCID: DWL001
MIFTS: 46

Dowling-Degos Disease (DDD)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Dowling-Degos Disease

MalaCards integrated aliases for Dowling-Degos Disease:

Name: Dowling-Degos Disease 11 19 42 58 43 14 71
Reticular Pigment Anomaly of Flexures 11 19 42 58
Reticulate Acropigmentation of Kitamura 19 71
Dark Dot Disease 11 42
Reticular Pigmented Anomaly of Flexures 42
Kitamura Reticulate Acropigmentation 19
Dowling-Degos Kitamura Disease 19
Dowling-Degos-Kitamura Disease 42
Ddd 42

Characteristics:


Inheritance:

Autosomal dominant 58

Age Of Onset:

Adolescent,Adult 58

Classifications:

Orphanet: 58  
Rare skin diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:0060256
MeSH 43 C562924
SNOMED-CT 68 239133004
ICD10 via Orphanet 32 L81.8
UMLS via Orphanet 72 C3714534
Orphanet 58 ORPHA79145
UMLS 71 C0406811 C3714534

Summaries for Dowling-Degos Disease

MedlinePlus Genetics: 42 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 hidradenitis suppurativa and reticulate acropigmentation of kitamura. An important gene associated with Dowling-Degos Disease is POGLUT1 (Protein O-Glucosyltransferase 1), and among its related pathways/superpathways are Neuroscience and Pre-NOTCH Expression and Processing. Affiliated tissues include skin and liver, and related phenotypes are progressive reticulate hyperpigmentation and abnormality of the neck

GARD: 19 Dowling-Degos disease is characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation) in the body's folds and creases. Other features may include abnormal growths and pus-filled swellings in the armpits, back, and neck. Symptoms typically develop in late childhood or in adolescence and progress over time. The classic form of Dowling-Degos disease occurs when the KRT5 gene is not working correctly. This condition is inherited in an autosomal dominant pattern. The skin changes caused by Dowling-Degos disease can be distressing, but they typically don't cause health problems.

Orphanet: 58 A rare, genetic, hyperpigmentation of the skin disease characterized by adulthood-onset of reticular, reddish-brown to dark-brown, macular and/or comedone-like, hyperkeratotic papules with hypopigmented macules, predominantly affecting flexural areas and, on occasion, progressing to involve trunk and acral regions. Histologically, epidermal acanthosis, thin, branch-like, rete ridges, and a tendency for acantholysis and pigmentary incontinence is observed.

Disease Ontology: 11 A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.

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 261)
# Related Disease Score Top Affiliating Genes
1 hidradenitis suppurativa 31.8 PSENEN NCSTN KRT14
2 reticulate acropigmentation of kitamura 31.3 SASH1 POGLUT1 POFUT1 KRT5 KRT4 KRT14
3 epidermolysis bullosa simplex 30.7 KRT5 KRT4 KRT14
4 epidermolysis bullosa simplex localized type 30.7 KRT5 KRT4 KRT14
5 epidermolysis bullosa simplex 1a, generalized severe 30.7 KRT5 KRT4 KRT14
6 anal canal squamous cell carcinoma 30.7 PSENEN POGLUT1 NCSTN KRT5
7 keratoacanthoma 30.5 NOTCH2 NOTCH1 KRT14
8 epidermolysis bullosa simplex 2f, with mottled pigmentation 30.5 SASH1 KRT5 KRT4 KRT14
9 oropharynx cancer 30.1 NOTCH1 KRT5 KRT14
10 dowling-degos disease 1 11.9
11 dowling-degos disease 2 11.9
12 dowling-degos disease 4 11.8
13 acne inversa, familial, 2, with or without dowling-degos disease 11.8
14 dowling-degos disease 3 11.5
15 membranoproliferative glomerulonephritis 11.4
16 c3 glomerulopathy 11.4
17 malignant atrophic papulosis 11.2
18 erythrokeratoderma ''en cocardes'' 11.2
19 degenerative disc disease 11.1
20 complement factor h deficiency 10.9
21 hidradenitis 10.8
22 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.8
23 skin disease 10.8
24 atrioventricular block 10.7
25 sick sinus syndrome 10.6
26 acne 10.6
27 conn's syndrome 10.6
28 third-degree atrioventricular block 10.6
29 adrenal cortical carcinoma 10.6
30 rare genetic skin disease 10.5
31 keratosis 10.5
32 pituitary-dependent cushing's disease 10.5
33 adrenocortical carcinoma, hereditary 10.4
34 acanthosis nigricans 10.4
35 cloacogenic carcinoma 10.4 KRT5 KRT4
36 autosomal dominant generalized epidermolysis bullosa simplex, severe form 10.4 KRT5 KRT14
37 epidermolysis bullosa simplex 1b, generalized intermediate 10.4 KRT5 KRT14
38 epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive 10.4 KRT5 KRT14
39 proliferative type fibrocystic change of breast 10.4 KRT5 KRT14
40 nodular hidradenoma 10.4 KRT5 KRT14
41 benign breast adenomyoepithelioma 10.4 KRT5 KRT14
42 breast adenomyoepithelioma 10.4 KRT5 KRT14
43 ceruminous adenocarcinoma 10.4 KRT5 KRT14
44 breast myoepithelial neoplasm 10.4 KRT5 KRT14
45 sublingual gland adenoid cystic carcinoma 10.4 KRT5 KRT14
46 epidermoid cysts 10.4
47 psoriasis 1 10.4
48 keratosis, seborrheic 10.4
49 psoriasis 2 10.4
50 psoriasis 7 10.4

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



Diseases related to Dowling-Degos Disease

Symptoms & Phenotypes for Dowling-Degos Disease

Human phenotypes related to Dowling-Degos Disease:

58 30 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive reticulate hyperpigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007456
2 abnormality of the neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0000464
3 inguinal freckling 58 30 Frequent (33%) Frequent (79-30%)
HP:0030052
4 abnormal fingernail morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001231
5 hypermelanotic macule 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001034
6 pruritus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000989
7 hyperkeratotic papule 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0045059
8 heat intolerance 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002046
9 erythematous papule 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030350
10 digital pitting scar 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031293
11 acne inversa 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040154
12 scrotal hyperpigmentation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012855
13 hyperpigmented papule 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025473
14 penile freckling 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031447
15 generalized abnormality of skin 58 30 Very rare (1%) Very rare (<4-1%)
HP:0011354
16 arthritis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001369
17 palmar pits 58 30 Very rare (1%) Very rare (<4-1%)
HP:0010610
18 skin vesicle 58 30 Very rare (1%) Very rare (<4-1%)
HP:0200037
19 epidermoid cyst 58 30 Very rare (1%) Very rare (<4-1%)
HP:0200040
20 mixed hypo- and hyperpigmentation of the skin 58 30 Very rare (1%) Very rare (<4-1%)
HP:0009123
21 hypopigmented macule 58 30 Very rare (1%) Very rare (<4-1%)
HP:0020073
22 anal margin squamous cell carcinoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0030442
23 keratoacanthoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0031525
24 hyperkeratosis 58 Frequent (79-30%)
25 abnormality of the hand 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Dowling-Degos Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.13 B3GNT2 GXYLT2 KRT14 KRT4 KRT5 LFNG
2 embryo MP:0005380 9.91 GXYLT1 LFNG NCSTN NOTCH1 NOTCH2 POFUT1
3 mortality/aging MP:0010768 9.83 ARHGAP31 EOGT GXYLT1 KRT14 KRT4 KRT5
4 craniofacial MP:0005382 9.7 B3GNT2 KRT14 KRT4 KRT5 NCSTN NOTCH1
5 integument MP:0010771 9.32 ARHGAP31 KRT14 KRT4 KRT5 NCSTN NOTCH1

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

Organs/tissues related to Dowling-Degos Disease:

MalaCards : Skin, Liver

Publications for Dowling-Degos Disease

Articles related to Dowling-Degos Disease:

(show top 50) (show all 229)
# Title Authors PMID Year
1
Disseminated papular variant of Dowling-Degos disease: Histopathological features in POGLUT1 mutation. 62
36314591 2022
2
Progressive cribriform and zosteriform hyperpigmentation: a histologic mimicker of Dowling-Degos disease? 62
36457684 2022
3
Acquired Dermal Macular Hyperpigmentation Mimicking Dowling Degos Disease: A Case Report. 62
36148207 2022
4
A case report of Dowling-Degos disease caused by POFUT1 exon deletion with possible coexistent CARD14 mutation-related psoriasis. 62
35340079 2022
5
Correction: Novel Presentation of Reticulate Acropigmentation of Kitamura With Bilateral Clinodactyly. 62
36039122 2022
6
Novel Presentation of Reticulate Acropigmentation of Kitamura With Bilateral Clinodactyly. 62
35978738 2022
7
Follicular Dowling-Degos Disease Camouflaged as Comedones: A Case Report and Literature Review. 62
35865417 2022
8
Dowling-Degos Disease Presenting With Associated Epidermal Inclusion Cysts: A Case Report and Review of the Literature. 62
34816802 2022
9
Evolutionary distinct roles of γ-secretase subunit nicastrin in zebrafish and humans. 62
35016821 2022
10
Classic Dowling Degos disease: a rare genodermatosis. 62
31195785 2021
11
Novel deletion of the POFUT1 gene associated with multiple seborrheic keratosis Dowling-Degos disease. 62
34524711 2021
12
Follicular Dowling-Degos Disease with Hidradenitis Suppurativa: A Case Report and Review of the Literature. 62
35082614 2021
13
Dowling-Degos disease: a review. 62
33368260 2021
14
Co-occurrence of Dowling-Degos disease and pemphigus vulgaris. 62
33660255 2021
15
Diseases related to Notch glycosylation. 62
33341260 2021
16
Middle of the breasts pigmentation in a pedigree with POFUT1-related Dowling-Degos disease, expansion of the phenotype. 62
34377138 2021
17
Exacerbation of Galli-Galli Disease Following Dialysis Treatment: A Case Report and Review of Aggravating Factors. 62
34249550 2021
18
Fucosylated Proteome Profiling Identifies a Fucosylated, Non-Ribosomal, Stress-Responsive Species of Ribosomal Protein S3. 62
34070332 2021
19
Follicular Dowling Degos Disease with Lichen Planus in Two Siblings: A Rare Association. 62
34211919 2021
20
Co-occurrence of Ichthyosis Vulgaris, Dowling-Degos Disease, and Hidradenitis Suppuritiva in Same Patient: An Association or Coincidence? 62
34188288 2021
21
Multiomics Integration in Skin Diseases with Alterations in Notch Signaling Pathway: PlatOMICs Phase 1 Deployment. 62
33546374 2021
22
Comorbid acne inversa and Dowling-Degos disease due to a single NCSTN mutation: is there enough evidence? 62
32894577 2021
23
Comorbid acne inversa and Dowling-Degos disease due to a single NCSTN mutation: is there enough evidence? Reply from the authors. 62
32895925 2021
24
Structure, function, and pathology of protein O-glucosyltransferases. 62
33436558 2021
25
Follicular Dowling-Degos Disease and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: A Chance or Significant Association. 62
33911305 2021
26
PSENEN Mutation in Coexistent Hidradenitis Suppurativa and Dowling-Degos Disease. 62
33768038 2021
27
A novel mutation in POFUT1 gene associated with Dowling-Degos disease and hidradenitis suppurativa. 62
32767357 2021
28
Hidradenitis Suppurativa Associated with Galli-Galli Disease: Extending the Link with Dowling-Degos Disease. 62
33488918 2020
29
Scrotal Dowling-Degos disease caused by a novel frameshift variant in gamma-secretase subunit presenile enhancer gene. 62
32478413 2020
30
The deregulation of NOTCH pathway, inflammatory cytokines, and keratinization genes in two Dowling-Degos disease patients with hidradenitis suppurativa. 62
33200913 2020
31
Coexistence of acne inversa with psoriasis and Dowling-Degos disease harboring impaired PSENEN-Notch signaling. 62
32852387 2020
32
Novel nicastrin mutation in hidradenitis suppurativa-Dowling-Degos disease clinical phenotype: more than just clinical overlap? 62
32282940 2020
33
[Vulvar Dowling-Degos disease]. 62
32600663 2020
34
Dermoscopy of Follicular Dowling-Degos Disease. 62
32831370 2020
35
Dowling-Degos Disease with Follicular Involvement Associated with Hidradenitis Suppurativa: A Manifestation of Follicular Occlusion Phenomenon? 62
32831371 2020
36
Atypical Disseminated Variant of Galli-Galli Disease: A Review of the Literature. 62
31449063 2020
37
Pleiotropic Role of Notch Signaling in Human Skin Diseases. 62
32545758 2020
38
Epidermal keratin 5 expression and distribution is under dermal influence. 62
31692218 2020
39
Dowling-Degos Disease with Hidradenitis Suppurativa and Inflammatory Arthritis in Two Generations. 62
32695705 2020
40
Pigmented Palmar Pits in Reticulate Acropigmentation of Kitamura. 62
32055524 2020
41
Reticulate Acropigmentation of Kitamura: A Dermoscopic Perspective. 62
32055533 2020
42
Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions. 62
31566882 2019
43
A familial case of Dowling-Degos disease on the vulva. 62
30666695 2019
44
Mast cell activation in Dowling-Degos disease. 62
31206596 2019
45
A case of hidradenitis suppurativa linked to trisomy 1q. 62
31535764 2019
46
Dowling-Degos Disease - A Novel Presentation of An Uncommon Disease. 62
31544084 2019
47
Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature. 62
31120546 2019
48
Reticulate acropigmentation of Kitamura with a novel mutation in ADAM10. 62
30488468 2019
49
Dowling-Degos Disease Presenting Primarily with Comedones and Atrophic Scarring. 62
31700856 2019
50
Full ablative versus fractional ablative laser therapy for Dowling-Degos disease. 62
30281812 2019

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 GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1 12.4 PSENEN NOTCH2 NOTCH1 NCSTN
2
Show member pathways
12.17 PSENEN POGLUT1 POFUT1 NOTCH2 NOTCH1 NCSTN
3
Show member pathways
12.07 PSENEN NOTCH2 NOTCH1 NCSTN
4 12.03 PSENEN NOTCH2 NOTCH1 NCSTN LFNG
5
Show member pathways
11.94 POFUT2 NOTCH2 NOTCH1 LFNG
6 11.91 PSENEN NOTCH2 NOTCH1 NCSTN
7
Show member pathways
11.78 PSENEN NOTCH1 NCSTN LFNG
8
Show member pathways
11.59 PSENEN NOTCH1 NCSTN
9 11.5 PSENEN NOTCH1 NCSTN
10
Show member pathways
11.39 NOTCH2 NOTCH1 NCSTN LFNG
11 11.36 NOTCH1 KRT5 KRT14
12 11.33 PSENEN NOTCH1 NCSTN
13 11.29 PSENEN NOTCH2 NOTCH1 NCSTN
14 11.18 ARHGAP31 EOGT NOTCH1
15 11.11 NOTCH2 NOTCH1 NCSTN LFNG
16 11.02 PSENEN POFUT1 NOTCH2 NOTCH1 NCSTN
17 10.95 PSENEN NCSTN
18 10.88 PSENEN NCSTN
19
Show member pathways
10.88 NOTCH1 LFNG
20 10.56 PSENEN NCSTN

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 gamma-secretase complex GO:0070765 8.92 PSENEN NCSTN

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 intermediate filament organization GO:0045109 10.04 KRT5 KRT4 KRT14
2 Notch signaling pathway GO:0007219 10.02 PSENEN POFUT1 NOTCH2 NOTCH1 NCSTN
3 protein O-linked glycosylation GO:0006493 10 POGLUT1 POFUT1 EOGT
4 somitogenesis GO:0001756 9.91 LFNG POFUT1 POGLUT1
5 membrane protein intracellular domain proteolysis GO:0031293 9.89 PSENEN NCSTN
6 Notch signaling involved in heart development GO:0061314 9.88 NOTCH2 NOTCH1
7 amyloid precursor protein metabolic process GO:0042982 9.88 PSENEN NCSTN
8 marginal zone B cell differentiation GO:0002315 9.86 LFNG NOTCH2
9 positive regulation of Notch signaling pathway GO:0045747 9.86 LFNG NOTCH1 POGLUT1 SLC35C2
10 Notch receptor processing GO:0007220 9.85 NCSTN PSENEN
11 amyloid-beta formation GO:0034205 9.84 NCSTN PSENEN
12 fucose metabolic process GO:0006004 9.81 POFUT2 POFUT1
13 protein glycosylation GO:0006486 9.8 POGLUT1 POFUT2 POFUT1 B3GNT2
14 regulation of somitogenesis GO:0014807 9.78 NOTCH1 LFNG
15 atrioventricular node development GO:0003162 9.76 NOTCH2 NOTCH1
16 cellular response to tumor cell GO:0071228 9.71 NOTCH2 NOTCH1
17 compartment pattern specification GO:0007386 9.67 NOTCH1 LFNG
18 protein O-linked fucosylation GO:0036066 9.63 SLC35C2 POFUT2 POFUT1
19 fucosylation GO:0036065 9.6 SLC35C2 POFUT2
20 regulation of Notch signaling pathway GO:0008593 9.43 POGLUT1 POFUT1 NOTCH1 LFNG
21 O-glycan processing GO:0016266 9.32 XXYLT1 POFUT1 GXYLT2 GXYLT1 B3GNT2

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 9.81 XXYLT1 POGLUT1 POFUT2 POFUT1 LFNG GXYLT2
2 UDP-D-xylose:beta-D-glucoside alpha-1,3-D-xylosyltransferase activity GO:0140563 9.62 GXYLT2 GXYLT1
3 peptide-O-fucosyltransferase activity GO:0046922 9.56 POFUT2 POFUT1
4 UDP-xylosyltransferase activity GO:0035252 9.56 XXYLT1 POGLUT1 GXYLT2 GXYLT1
5 fucosyltransferase activity GO:0008417 9.54 POFUT2 POFUT1
6 glycosyltransferase activity GO:0016757 9.36 XXYLT1 POGLUT1 POFUT2 POFUT1 LFNG GXYLT2

Sources for Dowling-Degos Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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