MCID: MLG141
MIFTS: 35

Malignant Atrophic Papulosis

Categories: Bone diseases, Cancer diseases, Cardiovascular diseases, Rare diseases, Skin diseases

Aliases & Classifications for Malignant Atrophic Papulosis

MalaCards integrated aliases for Malignant Atrophic Papulosis:

Name: Malignant Atrophic Papulosis 57 20 58 71
Degos Disease 57 74 20 58 54
Papulosis Atrophican Maligna 20 58
Kohlmeier-Degos Disease 20 58
Köhlmeier-Degos-Delort-Tricort Syndrome 20
Kohlmeier-Degos-Delort-Tricort Syndrome 58
Degos's Malignant Atrophic Papulosis 20
Papulosis, Malignant Atrophic 57
Atrophic Papulosis, Malignant 20
Köhlmeier-Degos Disease 20

Characteristics:

Orphanet epidemiological data:

58
malignant atrophic papulosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
male-to-female ratio 3 to 1
usually occurs in young adults


HPO:

31
malignant atrophic papulosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases


Summaries for Malignant Atrophic Papulosis

GARD : 20 Degos disease is a rare blood vessel disorder. It is characterized by blockages of small to medium sized blood vessels. This slows or stops the flow of blood through the affected vessels. Severity of symptoms depends on the extent and location of the affected blood vessels. Some individuals with Degos disease have isolated skin involvement and develop porcelain-white macules on their skin. Other individuals have more wide spread disease. Multiorgan disease can become life threatening. The cause of this condition is currently unknown.

MalaCards based summary : Malignant Atrophic Papulosis, also known as degos disease, is related to dowling-degos disease and dowling-degos disease 1. An important gene associated with Malignant Atrophic Papulosis is APOH (Apolipoprotein H). Affiliated tissues include skin, eye and endothelial, and related phenotypes are telangiectasia of the skin and papule

Wikipedia : 74 Degos disease, also known as Köhlmeier-Degos disease or malignant atrophic papulosis, is an extremely... more...

More information from OMIM: 602248

Related Diseases for Malignant Atrophic Papulosis

Diseases related to Malignant Atrophic Papulosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 dowling-degos disease 11.9
2 dowling-degos disease 1 11.6
3 dowling-degos disease 2 11.6
4 dowling-degos disease 4 11.6
5 acne inversa, familial, 2, with or without dowling-degos disease 11.6
6 erythrokeratoderma ''en cocardes'' 11.5
7 dowling-degos disease 3 11.2
8 hidradenitis suppurativa 10.6
9 hidradenitis 10.5
10 peritonitis 10.4
11 reticulate acropigmentation of kitamura 10.4
12 lupus erythematosus 10.3
13 acne 10.3
14 scleroderma, familial progressive 10.3
15 ptosis 10.3
16 intestinal perforation 10.3
17 connective tissue disease 10.3
18 vasculitis 10.3
19 rare genetic skin disease 10.2
20 acanthosis nigricans 10.2
21 systemic lupus erythematosus 10.2
22 kearns-sayre syndrome 10.2
23 purpura 10.2
24 systemic scleroderma 10.2
25 thrombotic microangiopathy 10.2
26 epidermolysis bullosa simplex 10.2
27 epidermoid cysts 10.1
28 dyschromatosis universalis hereditaria 10.1
29 constrictive pericarditis 10.1
30 autoimmune disease 10.0
31 sarcoidosis 1 10.0
32 thrombocytopenic purpura, autoimmune 10.0
33 3-methylglutaconic aciduria, type iii 10.0
34 pulmonary hypertension 10.0
35 exanthem 10.0
36 aphasia 10.0
37 ischemic colitis 10.0
38 dermatomyositis 10.0
39 thrombotic thrombocytopenic purpura 10.0
40 cauda equina syndrome 10.0
41 nephrotic syndrome 10.0
42 gastroparesis 10.0
43 papilledema 10.0
44 panniculitis 10.0
45 thrombocytopenia 10.0
46 keratosis 10.0
47 vascular disease 10.0
48 pericarditis 10.0
49 retinal vascular disease 10.0
50 myelitis 10.0

Graphical network of the top 20 diseases related to Malignant Atrophic Papulosis:



Diseases related to Malignant Atrophic Papulosis

Symptoms & Phenotypes for Malignant Atrophic Papulosis

Human phenotypes related to Malignant Atrophic Papulosis:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 telangiectasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0100585
2 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
3 dermal atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0004334
4 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
5 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
6 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
7 gastrointestinal hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0002239
8 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
9 gastrointestinal infarctions 58 31 frequent (33%) Frequent (79-30%) HP:0005244
10 muscle flaccidity 58 31 frequent (33%) Frequent (79-30%) HP:0010547
11 intestinal perforation 58 31 frequent (33%) Frequent (79-30%) HP:0031368
12 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
13 diplopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000651
14 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
15 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
16 myocardial infarction 58 31 occasional (7.5%) Occasional (29-5%) HP:0001658
17 abnormal myocardium morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001637
18 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
19 migraine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002076
20 chest pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0100749
21 arterial thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004420
22 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
23 pleural effusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0002202
24 abnormal pericardium morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001697
25 peritonitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002586
26 amaurosis fugax 58 31 occasional (7.5%) Occasional (29-5%) HP:0100576
27 intestinal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0100819
28 pain insensitivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007021
29 abnormality of the optic nerve 58 31 occasional (7.5%) Occasional (29-5%) HP:0000587
30 ischemic stroke 58 31 occasional (7.5%) Occasional (29-5%) HP:0002140
31 arteritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012089
32 abnormality of the lower urinary tract 58 31 occasional (7.5%) Occasional (29-5%) HP:0010936
33 seizure 31 occasional (7.5%) HP:0001250
34 seizures 58 Occasional (29-5%)
35 stroke 31 HP:0001297
36 peripheral neuropathy 58 Occasional (29-5%)
37 constrictive pericarditis 31 HP:0002563
38 abnormal conjunctiva morphology 31 HP:0000502

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Gastrointestinal:
gastrointestinal infarctions
gastrointestinal bleeding

Head And Neck Eyes:
avascular patches on conjunctiva and other eye regions

Skin Nails Hair Skin Histology:
wedge-shaped necrosis from epidermis through dermis

Respiratory Lung:
pleural effusion

Skin Nails Hair Skin:
multiple asymptomatic papules with atrophic white scar-like centers surrounded by telangiectatic borders

Neurologic Central Nervous System:
cns infarctions

Clinical features from OMIM®:

602248 (Updated 05-Mar-2021)

Drugs & Therapeutics for Malignant Atrophic Papulosis

Search Clinical Trials , NIH Clinical Center for Malignant Atrophic Papulosis

Genetic Tests for Malignant Atrophic Papulosis

Anatomical Context for Malignant Atrophic Papulosis

MalaCards organs/tissues related to Malignant Atrophic Papulosis:

40
Skin, Eye, Endothelial, Small Intestine, Brain, Spinal Cord, Liver

Publications for Malignant Atrophic Papulosis

Articles related to Malignant Atrophic Papulosis:

(show top 50) (show all 480)
# Title Authors PMID Year
1
Malignant atrophic papulosis (Degos' disease) involving three generations of a family. 61 57
9308565 1997
2
[2 families with malignant atrophic papulosis (Degos disease)]. 57 61
3279324 1988
3
Six cases of malignant atrophic papulosis (Degos' disease) occurring in one family. 57 61
6487548 1984
4
Familial malignant atrophic papulosis. 57 61
6733962 1984
5
Malignant atrophic papulosis (Degos' disease). Two cases occurring in the same family. 61 57
5359899 1969
6
Degos' disease (malignant papulosis). Report of three cases with clues to etiology. 61 57
4176652 1968
7
Malignant atrophic papulosis: endocardial involvement and positive anticardiolipin antibodies. 61 54
16684293 2006
8
Multiomics Integration in Skin Diseases with Alterations in Notch Signaling Pathway: PlatOMICs Phase 1 Deployment. 61
33546374 2021
9
Comorbid acne inversa and Dowling-Degos disease due to a single NCSTN mutation: is there enough evidence? 61
32894577 2021
10
Comorbid acne inversa and Dowling-Degos disease due to a single NCSTN mutation: is there enough evidence? Reply from the authors. 61
32895925 2021
11
A novel mutation in POFUT1 gene associated with Dowling-Degos disease and hidradenitis suppurativa. 61
32767357 2021
12
Structure, function, and pathology of protein O-glucosyltransferases. 61
33436558 2021
13
Degos Disease (Malignant Atrophic Papulosis) With Granular IgM on Direct Immunofluorescence. 61
33604213 2021
14
Diseases related to Notch glycosylation. 61
33341260 2020
15
Dowling-Degos disease: a review. 61
33368260 2020
16
Hidradenitis Suppurativa Associated with Galli-Galli Disease: Extending the Link with Dowling-Degos Disease. 61
33488918 2020
17
Degos-like lesions as a cutaneous manifestation of cytomegalovirus infection: A rare and serious complication in a patient with drug-induced hypersensitivity syndrome. 61
33305840 2020
18
The deregulation of NOTCH pathway, inflammatory cytokines, and keratinization genes in two Dowling-Degos disease patients with hidradenitis suppurativa. 61
33200913 2020
19
Scrotal Dowling-Degos disease caused by a novel frameshift variant in gamma-secretase subunit presenile enhancer gene. 61
32478413 2020
20
Juvenile dermatomyositis resembling late-stage Degos disease with gastrointestinal perforations successfully treated with combination of cyclophosphamide and rituximab: case-based review. 61
31900501 2020
21
Coexistence of acne inversa with psoriasis and Dowling-Degos disease harboring impaired PSENEN-Notch signaling. 61
32852387 2020
22
Degos disease: a case report and review of the literature. 61
33115514 2020
23
Novel nicastrin mutation in hidradenitis suppurativa-Dowling-Degos disease clinical phenotype: more than just clinical overlap? 61
32282940 2020
24
Bowel perforation from malignant atrophic papulosis treated with eculizumab. 61
33456165 2020
25
[Vulvar Dowling-Degos disease]. 61
32600663 2020
26
Degos disease: A radiological-pathological correlation of the neuroradiological aspects of the disease. 61
32505971 2020
27
Dermoscopy of Follicular Dowling-Degos Disease. 61
32831370 2020
28
Dowling-Degos Disease with Follicular Involvement Associated with Hidradenitis Suppurativa: A Manifestation of Follicular Occlusion Phenomenon? 61
32831371 2020
29
Atypical Disseminated Variant of Galli-Galli Disease: A Review of the Literature. 61
31449063 2020
30
Pleiotropic Role of Notch Signaling in Human Skin Diseases. 61
32545758 2020
31
Dowling-Degos Disease with Hidradenitis Suppurativa and Inflammatory Arthritis in Two Generations. 61
32695705 2020
32
Epidermal keratin 5 expression and distribution is under dermal influence. 61
31692218 2020
33
Degos disease in three patients with a common systemic involvement. 61
30375206 2020
34
Malignant Atrophic Papulosis. 61
31799991 2020
35
Enhanced cutaneous Rock2 expression as a marker of Rho Kinase pathway activation in autoimmune disease and Kohlemeier-Degos disease. 61
31778951 2020
36
Disseminated discoid lupus erythematosus mimicking Degos disease. 61
31429927 2020
37
Early failure of eculizumab in a patient with malignant atrophic papulosis: Is it time for initial combination therapy of eculizumab and treprostinil? 61
31631389 2020
38
Mast cell activation in Dowling-Degos disease. 61
31206596 2019
39
A familial case of Dowling-Degos disease on the vulva. 61
30666695 2019
40
Chronic pleuritis leading to severe pulmonary restriction: a rare complication of Degos disease. 61
31818897 2019
41
Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions. 61
31566882 2019
42
Dramatic neurological debut in a case of Köhlmeier-Degos disease. 61
31183675 2019
43
A case of hidradenitis suppurativa linked to trisomy 1q. 61
31535764 2019
44
Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature. 61
31120546 2019
45
Dowling-Degos Disease - A Novel Presentation of An Uncommon Disease. 61
31544084 2019
46
The color of skin: white diseases of the skin, nails, and mucosa. 61
31896410 2019
47
Classic dowling degos disease: a rare genodermatosis. 61
31195785 2019
48
Dowling-Degos Disease Presenting Primarily with Comedones and Atrophic Scarring. 61
31700856 2019
49
Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis. 61
30414910 2019
50
Full ablative versus fractional ablative laser therapy for Dowling-Degos disease. 61
30281812 2019

Variations for Malignant Atrophic Papulosis

Expression for Malignant Atrophic Papulosis

Search GEO for disease gene expression data for Malignant Atrophic Papulosis.

Pathways for Malignant Atrophic Papulosis

GO Terms for Malignant Atrophic Papulosis

Sources for Malignant Atrophic Papulosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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