MCID: MLG141
MIFTS: 35

Malignant Atrophic Papulosis

Categories: Bone diseases, Rare diseases, Skin diseases

Aliases & Classifications for Malignant Atrophic Papulosis

MalaCards integrated aliases for Malignant Atrophic Papulosis:

Name: Malignant Atrophic Papulosis 56 52 58 71
Degos Disease 56 74 52 58 54
Papulosis Atrophican Maligna 52 58
Kohlmeier-Degos Disease 52 58
Köhlmeier-Degos-Delort-Tricort Syndrome 52
Kohlmeier-Degos-Delort-Tricort Syndrome 58
Degos's Malignant Atrophic Papulosis 52
Papulosis, Malignant Atrophic 56
Atrophic Papulosis, Malignant 52
Köhlmeier-Degos Disease 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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

NIH Rare Diseases : 52 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 2. An important gene associated with Malignant Atrophic Papulosis is APOH (Apolipoprotein H). Affiliated tissues include skin, eye and bone, 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 121)
# Related Disease Score Top Affiliating Genes
1 dowling-degos disease 12.9
2 dowling-degos disease 2 12.7
3 dowling-degos disease 4 12.7
4 dowling-degos disease 1 12.7
5 acne inversa, familial, 2, with or without dowling-degos disease 12.7
6 dowling-degos disease 3 12.3
7 erythrokeratoderma ''en cocardes'' 11.9
8 vasculitis 10.6
9 hidradenitis suppurativa 10.6
10 peritonitis 10.5
11 hidradenitis 10.5
12 reticulate acropigmentation of kitamura 10.5
13 lupus erythematosus 10.4
14 inflammatory bowel disease 10.3
15 scleredema adultorum 10.3
16 alopecia 10.3
17 systemic lupus erythematosus 10.3
18 scleroderma, familial progressive 10.3
19 ptosis 10.3
20 intestinal perforation 10.3
21 neurofibromatosis, type ii 10.3
22 acanthosis nigricans 10.3
23 rare genetic skin disease 10.3
24 kearns-sayre syndrome 10.2
25 purpura 10.2
26 systemic scleroderma 10.2
27 connective tissue disease 10.2
28 thrombotic microangiopathy 10.2
29 epidermolysis bullosa simplex 10.2
30 dyschromatosis universalis hereditaria 10.1
31 constrictive pericarditis 10.1
32 autoimmune disease 10.1
33 sarcoidosis 1 10.1
34 thrombocytopenic purpura, autoimmune 10.1
35 3-methylglutaconic aciduria, type iii 10.1
36 pulmonary hypertension 10.1
37 exanthem 10.1
38 aphasia 10.1
39 colitis 10.1
40 ischemic colitis 10.1
41 dermatomyositis 10.1
42 thrombotic thrombocytopenic purpura 10.1
43 cauda equina syndrome 10.1
44 nephrotic syndrome 10.1
45 gastroparesis 10.1
46 papilledema 10.1
47 panniculitis 10.1
48 keratosis 10.1
49 vascular disease 10.1
50 pericarditis 10.1

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 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
5 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
6 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
7 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
8 gastrointestinal hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0002239
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 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
13 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
14 abnormal myocardium morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001637
15 myocardial infarction 58 31 occasional (7.5%) Occasional (29-5%) HP:0001658
16 abnormal pericardium morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001697
17 chest pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0100749
18 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
19 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
20 migraine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002076
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 diplopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000651
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 peripheral neuropathy 58 Occasional (29-5%)
36 stroke 31 HP:0001297
37 constrictive pericarditis 31 HP:0002563
38 abnormal conjunctiva morphology 31 HP:0000502

Symptoms via clinical synopsis from OMIM:

56
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

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, Bone, Endothelial, Small Intestine, Brain, Spinal Cord

Publications for Malignant Atrophic Papulosis

Articles related to Malignant Atrophic Papulosis:

(show top 50) (show all 462)
# Title Authors PMID Year
1
Malignant atrophic papulosis (Degos' disease) involving three generations of a family. 61 56
9308565 1997
2
[2 families with malignant atrophic papulosis (Degos disease)]. 56 61
3279324 1988
3
Six cases of malignant atrophic papulosis (Degos' disease) occurring in one family. 61 56
6487548 1984
4
Familial malignant atrophic papulosis. 61 56
6733962 1984
5
Malignant atrophic papulosis (Degos' disease). Two cases occurring in the same family. 61 56
5359899 1969
6
Degos' disease (malignant papulosis). Report of three cases with clues to etiology. 61 56
4176652 1968
7
Malignant atrophic papulosis: endocardial involvement and positive anticardiolipin antibodies. 54 61
16684293 2006
8
Pleiotropic Role of Notch Signaling in Human Skin Diseases. 61
32545758 2020
9
Scrotal Dowling-Degos disease caused by a novel frameshift variant in gamma-secretase subunit presenile enhancer gene. 61
32478413 2020
10
Epidermal keratin 5 expression and distribution is under dermal influence. 61
31692218 2020
11
Degos disease: A radiological-pathological correlation of the neuroradiological aspects of the disease. 61
32505971 2020
12
Novel nicastrin mutation in hidradenitis suppurativa-Dowling-Degos disease clinical phenotype: more than just clinical overlap? 61
32282940 2020
13
Degos disease in three patients with a common systemic involvement. 61
30375206 2020
14
Disseminated discoid lupus erythematosus mimicking Degos disease. 61
31429927 2020
15
Enhanced cutaneous Rock2 expression as a marker of Rho Kinase pathway activation in autoimmune disease and Kohlemeier-Degos disease. 61
31778951 2020
16
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
17
Juvenile dermatomyositis resembling late-stage Degos disease with gastrointestinal perforations successfully treated with combination of cyclophosphamide and rituximab: case-based review. 61
31900501 2020
18
Mast cell activation in Dowling-Degos disease. 61
31206596 2019
19
A familial case of Dowling-Degos disease on the vulva. 61
30666695 2019
20
Chronic pleuritis leading to severe pulmonary restriction: a rare complication of Degos disease. 61
31818897 2019
21
Malignant Atrophic Papulosis. 61
31799991 2019
22
Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions. 61
31566882 2019
23
Dramatic neurological debut in a case of Köhlmeier-Degos disease. 61
31183675 2019
24
A case of hidradenitis suppurativa linked to trisomy 1q. 61
31535764 2019
25
Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature. 61
31120546 2019
26
Dowling-Degos Disease - A Novel Presentation of An Uncommon Disease. 61
31544084 2019
27
The color of skin: white diseases of the skin, nails, and mucosa. 61
31896410 2019
28
Atypical Disseminated Variant of Galli-Galli Disease: A Review of the Literature. 61
31449063 2019
29
Classic dowling degos disease: a rare genodermatosis. 61
31195785 2019
30
Dowling-Degos Disease Presenting Primarily with Comedones and Atrophic Scarring. 61
31700856 2019
31
Full ablative versus fractional ablative laser therapy for Dowling-Degos disease. 61
30281812 2019
32
Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis. 61
30414910 2019
33
Hidradenitis suppurativa of the nape: Description of an atypical phenotype related to severe early-onset disease in men. 61
30561771 2019
34
Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: An update. 61
30692041 2019
35
Degos-Like Lesions In Association With Connective Tissue Diseases: A Report Of Three Cases And Literature Review. 61
31807047 2019
36
A case of co-occurence of Dowling-Degos disease and psoriasis: association or a rarely-seen coincidence? 61
30518180 2018
37
Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1. 61
29797344 2018
38
A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease. 61
29569780 2018
39
Kohlmeier-Degos disease with constrictive pericarditis and atrial fibrillation. 61
29974345 2018
40
Dowling-Degos Disease Localized on Vulva Mimicking Condyloma Acuminata. 61
30504986 2018
41
[The benign form of malignant atrophic papulosis (Köhlmeier-Degos disease)]. 61
30264308 2018
42
Vesicular variant of Dowling-Degos disease. 61
29931677 2018
43
Malignant atrophic papulosis with motor aphasia and intestinal perforation: A case report and review of published works. 61
29516548 2018
44
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features. 61
29452367 2018
45
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
46
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
47
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
48
Pediatric Malignant Atrophic Papulosis. 61
29610176 2018
49
Benign Atrophic Papulosis (Degos Disease) With Lymphocytic Vasculitis and Lichen Sclerosus-Like Features. 61
28244939 2018
50
A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN. 61
28922471 2018

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

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63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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