MCID: DFF001
MIFTS: 44

Diffuse Cutaneous Mastocytosis

Categories: Rare diseases, Skin diseases, Blood diseases

Aliases & Classifications for Diffuse Cutaneous Mastocytosis

MalaCards integrated aliases for Diffuse Cutaneous Mastocytosis:

Name: Diffuse Cutaneous Mastocytosis 12 49 55 14
Diffuse Cutaneous Maculopapulous Mastocytosis 49 55
Dcm 49 55
Mastocytosis, Diffuse Cutaneous 69

Characteristics:

Orphanet epidemiological data:

55
diffuse cutaneous mastocytosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:



Summaries for Diffuse Cutaneous Mastocytosis

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Cutaneous mastocytosis.

MalaCards based summary : Diffuse Cutaneous Mastocytosis, also known as diffuse cutaneous maculopapulous mastocytosis, is related to cutaneous mastocytosis and pseudoxanthomatous diffuse cutaneous mastocytosis, and has symptoms including erythroderma, abnormal blistering of the skin and cutaneous mastocytosis. An important gene associated with Diffuse Cutaneous Mastocytosis is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are NF-kappaB Signaling and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are integument and no phenotypic analysis

Related Diseases for Diffuse Cutaneous Mastocytosis

Diseases related to Diffuse Cutaneous Mastocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 cutaneous mastocytosis 32.2 ATP7A KIT SLC27A4
2 pseudoxanthomatous diffuse cutaneous mastocytosis 12.2
3 bullous diffuse cutaneous mastocytosis 12.2
4 dilated cardiomyopathy 12.0
5 3-methylglutaconic aciduria, type v 11.1
6 gallbladder leiomyoma 10.2 CD34 KIT
7 lung leiomyosarcoma 10.2 CD34 KIT
8 liver leiomyoma 10.2 CD34 KIT
9 deep leiomyoma 10.2 CD34 KIT
10 fox-fordyce disease 10.2 KIT OSMR
11 small intestine leiomyosarcoma 10.2 CD34 KIT
12 small intestinal sarcoma 10.2 CD34 KIT
13 gallbladder sarcoma 10.2 CD34 KIT
14 prostate leiomyosarcoma 10.2 CD34 KIT
15 breast angiosarcoma 10.2 CD34 KIT
16 plexiform schwannoma 10.2 CD34 KIT
17 angiomyoma 10.2 CD34 KIT
18 spindle cell liposarcoma 10.2 CD34 KIT
19 mesenchymal cell neoplasm 10.2 CD34 KIT
20 spindle cell synovial sarcoma 10.1 CD34 KIT
21 muscle cancer 10.1 CD34 KIT
22 connective tissue cancer 10.1 CD34 KIT
23 organ system benign neoplasm 10.1 CD34 KIT
24 mast-cell leukemia 10.1 ATP7A KIT
25 leukocyte disease 10.1 CD34 KIT
26 endometrial small cell carcinoma 10.0 KIT PTPRC
27 testicular infarct 10.0 KIT PTPRC
28 myeloid sarcoma 9.9 KIT PTPRC
29 gastrointestinal system cancer 9.9 CD34 KIT
30 liver inflammatory pseudotumor 9.9 CD34 PTPRC
31 glomeruloid hemangioma 9.9 CD34 PTPRC
32 extraosseous osteosarcoma 9.9 CD34 PTPRC
33 vulvar sarcoma 9.9 CD34 PTPRC
34 chronic monocytic leukemia 9.8 CD34 PTPRC
35 reticulohistiocytic granuloma 9.8 CD34 PTPRC
36 small cell carcinoma 9.8 KIT PTPRC
37 erythema multiforme 9.8
38 ichthyosis 9.8
39 epidermolysis bullosa 9.8
40 cutaneous mastocytoma 9.8
41 histiocytoma 9.8 KIT PTPRC
42 cell type cancer 9.7 CD34 KIT
43 extracutaneous mastocytoma 9.6 CD34 KIT PTPRC
44 sarcomatoid squamous cell skin carcinoma 9.6 CD34 KIT PTPRC
45 conventional fibrosarcoma 9.6 CD34 KIT PTPRC
46 combined immunodeficiency, x-linked 9.6 CD34 PTPRC
47 leukemia, acute myeloid 9.5 CD34 KIT PTPRC

Graphical network of the top 20 diseases related to Diffuse Cutaneous Mastocytosis:



Diseases related to Diffuse Cutaneous Mastocytosis

Symptoms & Phenotypes for Diffuse Cutaneous Mastocytosis

Human phenotypes related to Diffuse Cutaneous Mastocytosis:

55 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 erythroderma 55 31 hallmark (90%) Very frequent (99-80%) HP:0001019
2 abnormal blistering of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0008066
3 cutaneous mastocytosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0200151
4 pruritus 55 31 frequent (33%) Frequent (79-30%) HP:0000989
5 abnormality of skin pigmentation 55 31 frequent (33%) Frequent (79-30%) HP:0001000
6 thickened skin 55 31 frequent (33%) Frequent (79-30%) HP:0001072
7 hypotension 55 31 frequent (33%) Frequent (79-30%) HP:0002615
8 dermatographic urticaria 55 31 frequent (33%) Frequent (79-30%) HP:0011971
9 leukemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001909
10 malabsorption 55 31 occasional (7.5%) Occasional (29-5%) HP:0002024
11 gastrointestinal hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0002239
12 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
13 anaphylactic shock 55 31 occasional (7.5%) Occasional (29-5%) HP:0100845
14 urticaria 55 Frequent (79-30%)

UMLS symptoms related to Diffuse Cutaneous Mastocytosis:


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MGI Mouse Phenotypes related to Diffuse Cutaneous Mastocytosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.35 ATP7A CD34 KIT OSMR SLC27A4
2 no phenotypic analysis MP:0003012 9.02 KIT OSMR PTPRC SERPINB6 SLC27A4

Drugs & Therapeutics for Diffuse Cutaneous Mastocytosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations Recruiting NCT02761473
2 Mast Cell Connect: A Registry for Patients With Mastocytosis Recruiting NCT02620254

Search NIH Clinical Center for Diffuse Cutaneous Mastocytosis

Genetic Tests for Diffuse Cutaneous Mastocytosis

Anatomical Context for Diffuse Cutaneous Mastocytosis

MalaCards organs/tissues related to Diffuse Cutaneous Mastocytosis:

38
Skin, Bone, Bone Marrow, Monocytes

Publications for Diffuse Cutaneous Mastocytosis

Articles related to Diffuse Cutaneous Mastocytosis:

(show all 45)
# Title Authors Year
1
Granular IgM Deposition at Basement Membrane Zone in an Infant with Diffuse Cutaneous Mastocytosis. ( 27688466 )
2016
2
Routine Vaccinations in Diffuse Cutaneous Mastocytosis. ( 26772936 )
2016
3
Diffuse cutaneous mastocytosis with bullous lesions and pulmonary involvement: a rare case. ( 25814708 )
2015
4
Diffuse cutaneous mastocytosis, bullous variant, presenting in a six-month-old infant. ( 24811027 )
2014
5
Generalized bullous eruption after routine vaccination in a child with diffuse cutaneous mastocytosis. ( 24229828 )
2013
6
A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family. ( 24289326 )
2013
7
Diffuse cutaneous mastocytosis: a heterogeneous disease. ( 23606712 )
2013
8
Imatinib mesylate in the treatment of diffuse cutaneous mastocytosis. ( 23069194 )
2013
9
Diffuse cutaneous mastocytosis: analysis of 10 cases and a brief review of the literature. ( 22092511 )
2012
10
Oral and topical sodium cromoglicate in the treatment of diffuse cutaneous mastocytosis in an infant. ( 22693187 )
2011
11
Diffuse cutaneous mastocytosis masquerading as epidermolysis bullosa. ( 21854415 )
2011
12
Neonatal onset diffuse cutaneous mastocytosis: a case report and review of the literature. ( 20678092 )
2011
13
Diffuse cutaneous mastocytosis: report of a severe case with fatal outcome. ( 21426873 )
2011
14
Diffuse cutaneous mastocytosis with generalized bullae. ( 20548889 )
2010
15
Diffuse cutaneous mastocytosis in fraternal twins. ( 19200195 )
2009
16
Clinical aspects of diffuse cutaneous mastocytosis in children: two variants. ( 19797893 )
2009
17
Diffuse cutaneous mastocytosis in a newborn calf. ( 18477335 )
2008
18
Diffuse cutaneous mastocytosis treated with psoralen photochemotherapy: case report and review of the literature. ( 15656827 )
2005
19
A germline mutation in KIT in familial diffuse cutaneous mastocytosis. ( 15173254 )
2004
20
Diffuse cutaneous mastocytosis: pseudoxanthomatous variant. ( 12126072 )
2002
21
Diffuse cutaneous mastocytosis with bone marrow infiltration in a child: a case report. ( 10886751 )
2000
22
Diffuse cutaneous mastocytosis responding to cyproheptadine. ( 10233642 )
1999
23
Diffuse cutaneous mastocytosis with bullae or bullous mastocytosis: a question of semantics. ( 10627222 )
1999
24
Ichthyosis congenita type IV: a new case resembling diffuse cutaneous mastocytosis. ( 9115920 )
1997
25
Diffuse cutaneous mastocytosis without systemic involvement : Response to topical augmented betamethasone dipropionate under plastic occlusion. ( 20944388 )
1997
26
Diffuse cutaneous mastocytosis. Treatment with oral psoralen plus UV-A. ( 8961869 )
1996
27
Diffuse cutaneous mastocytosis: a rare entity. ( 8415319 )
1993
28
Continuous release of secretory granule proteoglycans from a cell strain derived from the bone marrow of a patient with diffuse cutaneous mastocytosis. ( 1728305 )
1992
29
Establishment in culture and characterization of a strain with mast cell and monocytic properties from the bone marrow of a child with diffuse cutaneous mastocytosis. ( 2070067 )
1991
30
Diffuse cutaneous mastocytosis mimicking staphylococcal scalded-skin syndrome: report of three cases. ( 1923984 )
1991
31
Diffuse cutaneous mastocytosis, 22 years on. ( 2337526 )
1990
32
Photochemotherapy of dominant, diffuse, cutaneous mastocytosis. ( 2080117 )
1990
33
The familial occurrence of bullous mastocytosis (diffuse cutaneous mastocytosis). ( 2241201 )
1990
34
Diffuse cutaneous mastocytosis in a cat. ( 2238391 )
1990
35
Occurrence of platelet-activating factor (PAF) and an endogenous inhibitor of platelet aggregation in diffuse cutaneous mastocytosis. ( 2805409 )
1989
36
Bullous mastocytosis: diffuse cutaneous mastocytosis with extensive blisters mimicking scalded skin syndrome or erythema multiforme. ( 6387670 )
1984
37
Diffuse cutaneous mastocytosis with multiple cutaneous mastocytomas. Report of a case with clinical, histopathological and ultrastructural aspects. ( 6770887 )
1980
38
Diffuse cutaneous mastocytosis: a report of neonatal onset. ( 94218 )
1979
39
Clinico-athological study of a case of diffuse cutaneous mastocytosis. ( 753755 )
1977
40
Diffuse cutaneous mastocytosis in mother and daughter. ( 935150 )
1976
41
Atypical diffuse cutaneous mastocytosis. ( 5033745 )
1972
42
Diffuse cutaneous mastocytosis. ( 5548477 )
1971
43
Diffuse cutaneous mastocytosis. ( 5710058 )
1968
44
DIFFUSE CUTANEOUS MASTOCYTOSIS. ( 14046151 )
1963
45
Diffuse cutaneous mastocytosis. ( 13822837 )
1960

Variations for Diffuse Cutaneous Mastocytosis

Expression for Diffuse Cutaneous Mastocytosis

Search GEO for disease gene expression data for Diffuse Cutaneous Mastocytosis.

Pathways for Diffuse Cutaneous Mastocytosis

GO Terms for Diffuse Cutaneous Mastocytosis

Cellular components related to Diffuse Cutaneous Mastocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.7 ATP7A CD34 KIT OSMR PTPRC SERPINB6
2 apical plasma membrane GO:0016324 9.43 ATP7A CD34 OSMR
3 microvillus GO:0005902 9.37 ATP7A SLC27A4
4 brush border membrane GO:0031526 9.32 ATP7A SLC27A4
5 external side of plasma membrane GO:0009897 9.13 CD34 KIT PTPRC
6 mast cell granule GO:0042629 8.62 KIT SRGN

Biological processes related to Diffuse Cutaneous Mastocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hemopoiesis GO:0030097 9.26 CD34 KIT
2 skin development GO:0043588 9.16 ATP7A SLC27A4
3 pigmentation GO:0043473 8.96 ATP7A KIT
4 T cell differentiation GO:0030217 8.62 KIT PTPRC

Sources for Diffuse Cutaneous Mastocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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