MCID: MLG141
MIFTS: 37

Malignant Atrophic Papulosis

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Malignant Atrophic Papulosis

MalaCards integrated aliases for Malignant Atrophic Papulosis:

Name: Malignant Atrophic Papulosis 57 53 59 73
Degos Disease 57 76 53 59 55
Köhlmeier-Degos-Delort-Tricort Syndrome 59
Degos's Malignant Atrophic Papulosis 53
Papulosis, Malignant Atrophic 57
Atrophic Papulosis, Malignant 53
Papulosis Atrophican Maligna 59
Kohlmeier-Degos Disease 53
Köhlmeier-Degos Disease 59
Degos Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
malignant atrophic papulosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
malignant atrophic papulosis:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Malignant Atrophic Papulosis

NIH Rare Diseases : 53 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 bone, and related phenotypes are dermal atrophy and telangiectasia of the skin

Wikipedia : 76 Degos disease, also known as Köhlmeier-Degos disease or malignant atrophic papulosis (MAP), is an... more...

Description 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 all 26)
# Related Disease Score Top Affiliating Genes
1 dowling-degos disease 12.5
2 dowling-degos disease 1 12.4
3 dowling-degos disease 2 12.3
4 dowling-degos disease 4 12.3
5 acne inversa, familial, 2, with or without dowling-degos disease 12.3
6 dowling-degos disease 3 12.0
7 reticulate acropigmentation of kitamura 10.3
8 hidradenitis suppurativa 10.2
9 hidradenitis 10.2
10 stroke, ischemic 10.2
11 atrial fibrillation 10.2
12 constrictive pericarditis 10.2
13 pericarditis 10.2
14 cerebritis 10.2
15 lupus erythematosus 10.1
16 systemic lupus erythematosus 10.1
17 thrombocytopenic purpura, autoimmune 9.9
18 aphasia 9.9
19 gastroparesis 9.9
20 panniculitis 9.9
21 intestinal perforation 9.9
22 purpura 9.9
23 vasculitis 9.9
24 muscular dystrophy white matter spongiosis 9.9
25 depression 9.9
26 endotheliitis 9.9

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



Diseases related to Malignant Atrophic Papulosis

Symptoms & Phenotypes for Malignant Atrophic Papulosis

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Malignant Atrophic Papulosis:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dermal atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0004334
2 telangiectasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0100585
3 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
4 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
5 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
6 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
7 gastrointestinal hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0002239
8 gastrointestinal infarctions 59 32 frequent (33%) Frequent (79-30%) HP:0005244
9 muscle flaccidity 59 32 frequent (33%) Frequent (79-30%) HP:0010547
10 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
11 intestinal perforation 59 32 frequent (33%) Frequent (79-30%) HP:0031368
12 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
13 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
14 abnormality of the optic nerve 59 32 occasional (7.5%) Occasional (29-5%) HP:0000587
15 diplopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000651
16 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
17 abnormal myocardium morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001637
18 myocardial infarction 59 32 occasional (7.5%) Occasional (29-5%) HP:0001658
19 abnormal pericardium morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001697
20 migraine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002076
21 ischemic stroke 59 32 occasional (7.5%) Occasional (29-5%) HP:0002140
22 pleural effusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0002202
23 vertigo 59 32 occasional (7.5%) Occasional (29-5%) HP:0002321
24 peritonitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002586
25 respiratory failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002878
26 arterial thrombosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004420
27 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
28 pain insensitivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007021
29 abnormality of the lower urinary tract 59 32 occasional (7.5%) Occasional (29-5%) HP:0010936
30 arteritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012089
31 amaurosis fugax 59 32 occasional (7.5%) Occasional (29-5%) HP:0100576
32 chest pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0100749
33 intestinal fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0100819
34 peripheral neuropathy 59 Occasional (29-5%)
35 abnormal conjunctiva morphology 32 HP:0000502
36 stroke 32 HP:0001297
37 constrictive pericarditis 32 HP:0002563

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:

41
Skin, Eye, Bone, Endothelial, Brain, Spinal Cord

Publications for Malignant Atrophic Papulosis

Articles related to Malignant Atrophic Papulosis:

(show top 50) (show all 249)
# Title Authors Year
1
Whole exome sequencing in a multi-generation family from India reveals a genetic variation c.10C&amp;gt;T (p.Gln4Ter) in keratin 5 gene associated with Dowling-Degos disease. ( 29600799 )
2018
2
Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1. ( 29797344 )
2018
3
Malignant atrophic papulosis with motor aphasia and intestinal perforation: A case report and review of published works. ( 29516548 )
2018
4
Vesicular variant of Dowling-Degos disease. ( 29931677 )
2018
5
Concurrent hidradenitis suppurativa and Dowling-Degos disease taken down a 'Notch'. ( 29441533 )
2018
6
Kohlmeier-Degos disease with constrictive pericarditis and atrial fibrillation. ( 29974345 )
2018
7
A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease. ( 29569780 )
2018
8
The evolution of cerebrovascular changes in KAPhlmeier-Degos disease: An 11-year follow-up case report. ( 29239824 )
2018
9
Generalized Dowling-Degos disease with hypopigmented lesions: A diagnostic challenge. ( 29176251 )
2018
10
Pediatric Malignant Atrophic Papulosis. ( 29610176 )
2018
11
Follicular Dowling-Degos Disease: A Rare Pigmentary Dermatosis. ( 29204397 )
2017
12
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
13
Systemic lupus erythematosus, following prodromal idiopathic thrombocytopenic purpura, presenting with skin lesions resembling malignant atrophic papulosis. ( 28691162 )
2017
14
Mutations in I^-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. ( 28287404 )
2017
15
Dowling-Degos disease with mutation in the exon 1 of the keratin 5 gene. ( 28646612 )
2017
16
PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) andA Dowling-Degos Disease (DDD): IsA AIA orA DDD the Subphenotype? ( 28601418 )
2017
17
Successful Management of Dowling-Degos Disease with Combination of Q-switched Nd: YAG and Fractional Carbon Dioxide Laser. ( 28529428 )
2017
18
A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN. ( 28922471 )
2017
19
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
20
Benign Atrophic Papulosis (Degos Disease) With Lymphocytic Vasculitis and Lichen Sclerosus-Like Features. ( 28244939 )
2017
21
Dermatoscopic Features of Hyper and Hypopigmented Lesions of Dowling Degos Disease. ( 26955155 )
2016
22
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease. ( 27900998 )
2016
23
A dramatic case of malignant atrophic papulosis (KAPhlmeier-Degos disease) with fatal outcome. ( 27503064 )
2016
24
Dowling-Degos disease with reticulate acropigmentation of Kitamura: Extended spectrum of a single entity. ( 26955585 )
2016
25
Atypical cases of Dowling-Degos disease. ( 27057490 )
2016
26
Degos disease mimicking primary vasculitis of the CNS. ( 26894208 )
2016
27
Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. ( 27479915 )
2016
28
Dowling-Degos disease co-presenting with Darier disease. ( 26685052 )
2016
29
Coexistence of Reticulate Acropigmentation of Kitamura and Dowling-Degos Disease. ( 29210541 )
2016
30
Renal involvement in Malignant Atrophic Papulosis (Degos Disease). ( 25831010 )
2015
31
Dowling-Degos disease and malignant melanoma: Association or mere coincidence? ( 26515850 )
2015
32
Degos disease: report of a case and review of the literature. ( 25686287 )
2015
33
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
34
A case of malignant atrophic papulosis with cranial nerve and peripheral nerve impairment. ( 26312664 )
2015
35
Degos Disease Associated with BehAset's Disease. ( 25834376 )
2015
36
Dowling-Degos disease with mutations in POFUT1 is clinico-pathologically distinct from reticulate acropigmentation of Kitamura. ( 25639155 )
2015
37
Degos disease - malignant atrophic papulosis or cutaneointestinal lethal syndrome: rarity of the disease. ( 25926751 )
2015
38
Laparoscopy shows superiority over endoscopy for early detection of malignant atrophic papulosis gastrointestinal complications: a case report and review of literature. ( 26527039 )
2015
39
Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease. ( 26486618 )
2015
40
Opioid associated intravenous and cutaneous microvascular drug abuse (skin-popping) masquerading as Degos disease (malignant atrophic papulosis) with multiorgan involvement. ( 26437280 )
2015
41
The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family. ( 25284854 )
2014
42
Dowling-Degos Disease Associated With Hidradenitis Suppurativa: A Case Report. ( 25529465 )
2014
43
Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura. ( 25229252 )
2014
44
A case of Degos disease: demonstration of C5b-9-mediated vascular injury. ( 24506660 )
2014
45
The dermoscopic variability of Degos disease at different stages of progression. ( 25126461 )
2014
46
Two cases of Degos disease with different prognosis. ( 25610362 )
2014
47
Successful treatment of Dowling-Degos disease using intense pulsed light. ( 25495801 )
2014
48
Dowling-Degos disease with diffuse penile pigmentation. ( 24422879 )
2014
49
Reflectance confocal microscopy features of degos disease. ( 23864231 )
2014
50
Malignant and benign forms of atrophic papulosis (KAPhlmeier-Degos disease): systemic involvement determines the prognosis. ( 24116834 )
2014

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
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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