MCID: MLG141
MIFTS: 38

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 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, bone and eye, and related phenotypes are ptosis and diplopia

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

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

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, Bone, Eye, Endothelial, Brain, Spinal Cord

Publications for Malignant Atrophic Papulosis

Articles related to Malignant Atrophic Papulosis:

(show top 50) (show all 303)
# 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
Full ablative versus fractional ablative laser therapy for Dowling-Degos disease. ( 30281812 )
2018
12
Altered Notch signaling in Dowling-Degos disease: Additional mutations in POGLUT1 and further insights into disease pathogenesis. ( 30414910 )
2018
13
Dowling-Degos Disease Localized on Vulva Mimicking Condyloma Acuminata. ( 30504986 )
2018
14
A case of co-occurence of Dowling-Degos disease and psoriasis: association or a rarely-seen coincidence? ( 30518180 )
2018
15
Benign Atrophic Papulosis (Degos Disease) With Lymphocytic Vasculitis and Lichen Sclerosus-Like Features. ( 28244939 )
2018
16
Degos disease in patients with a common systemic involvement. ( 30375206 )
2018
17
Follicular Dowling-Degos Disease: A Rare Pigmentary Dermatosis. ( 29204397 )
2017
18
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
19
Systemic lupus erythematosus, following prodromal idiopathic thrombocytopenic purpura, presenting with skin lesions resembling malignant atrophic papulosis. ( 28691162 )
2017
20
Mutations in I^-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. ( 28287404 )
2017
21
Dowling-Degos disease with mutation in the exon 1 of the keratin 5 gene. ( 28646612 )
2017
22
PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) andA Dowling-Degos Disease (DDD): IsA AIA orA DDD the Subphenotype? ( 28601418 )
2017
23
Successful Management of Dowling-Degos Disease with Combination of Q-switched Nd: YAG and Fractional Carbon Dioxide Laser. ( 28529428 )
2017
24
A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN. ( 28922471 )
2017
25
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
26
Congenital Degos Disease: Case Report and Dermoscopic Findings. ( 28317162 )
2017
27
Degos disease, not just a scar: lethal outcome in spite of immunomodulatory therapy. ( 28370442 )
2017
28
Systemic lupus erythematosus with Degos disease: role of dermatoscopy in diagnosis. ( 28444743 )
2017
29
Benign atrophic papulosis (Köhlmeier-Degos disease): the wedge-shaped dermal necrosis can resolve with time. ( 28544089 )
2017
30
Multi-organ vaso-occlusive disease: Buerger's or Kohlmeier-Degos disease? ( 29096880 )
2017
31
Dermatoscopic Features of Hyper and Hypopigmented Lesions of Dowling Degos Disease. ( 26955155 )
2016
32
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease. ( 27900998 )
2016
33
A dramatic case of malignant atrophic papulosis (KAPhlmeier-Degos disease) with fatal outcome. ( 27503064 )
2016
34
Dowling-Degos disease with reticulate acropigmentation of Kitamura: Extended spectrum of a single entity. ( 26955585 )
2016
35
Atypical cases of Dowling-Degos disease. ( 27057490 )
2016
36
Degos disease mimicking primary vasculitis of the CNS. ( 26894208 )
2016
37
Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. ( 27479915 )
2016
38
Dowling-Degos disease co-presenting with Darier disease. ( 26685052 )
2016
39
Coexistence of Reticulate Acropigmentation of Kitamura and Dowling-Degos Disease. ( 29210541 )
2016
40
Degos Disease: A Murderous Menace. ( 27688455 )
2016
41
A case of Degos disease in pregnancy. ( 27829877 )
2016
42
Renal involvement in Malignant Atrophic Papulosis (Degos Disease). ( 25831010 )
2015
43
Dowling-Degos disease and malignant melanoma: Association or mere coincidence? ( 26515850 )
2015
44
Degos disease: report of a case and review of the literature. ( 25686287 )
2015
45
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
46
A case of malignant atrophic papulosis with cranial nerve and peripheral nerve impairment. ( 26312664 )
2015
47
Degos Disease Associated with BehAset's Disease. ( 25834376 )
2015
48
Dowling-Degos disease with mutations in POFUT1 is clinico-pathologically distinct from reticulate acropigmentation of Kitamura. ( 25639155 )
2015
49
Degos disease - malignant atrophic papulosis or cutaneointestinal lethal syndrome: rarity of the disease. ( 25926751 )
2015
50
Laparoscopy shows superiority over endoscopy for early detection of malignant atrophic papulosis gastrointestinal complications: a case report and review of literature. ( 26527039 )
2015

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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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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