MCID: DFF001
MIFTS: 29

Diffuse Cutaneous Mastocytosis malady

Skin diseases, Immune diseases, Blood diseases, Cancer diseases, Rare diseases categories

Summaries for Diffuse Cutaneous Mastocytosis

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Wikipedia:63 Diffuse cutaneous mastocytosis has diffuse involvement in which the entire integument may be thickened... more...

MalaCards based summary: Diffuse Cutaneous Mastocytosis, also known as diffuse cutaneous maculopapulous mastocytosis, is related to cutaneous mastocytosis and mastocytosis, and has symptoms including abnormal blistering of the skin, mastocytosis and pruritus. An important gene associated with Diffuse Cutaneous Mastocytosis is SLC27A4 (solute carrier family 27 (fatty acid transporter), member 4). Affiliated tissues include skin, liver and bone.

Aliases & Classifications for Diffuse Cutaneous Mastocytosis

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Sources:
9Disease Ontology, 47Orphanet, 60UMLS, 38NCIt, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Diffuse Cutaneous Mastocytosis, Aliases & Descriptions:

Name: Diffuse Cutaneous Mastocytosis 9 47
Diffuse Cutaneous Maculopapulous Mastocytosis 47
 
Mastocytosis, Diffuse Cutaneous 60
Dcm 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
diffuse cutaneous mastocytosis:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

Disease Ontology9 DOID:3665
NCIt38 C3218
MeSH33 D034701
Orphanet47 79456
ICD10 via Orphanet26 Q82.2
UMLS via Orphanet61 C0024901

Related Diseases for Diffuse Cutaneous Mastocytosis

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1cutaneous mastocytosis11.0
2mastocytosis11.0
3pseudoxanthomatous diffuse cutaneous mastocytosis10.5
4bullous diffuse cutaneous mastocytosis10.4
5dilated cardiomyopathy10.4
6erythema multiforme10.2
7epidermolysis bullosa10.2
8cutaneous mastocytoma10.2
9cataract10.0
10microphthalmia10.0
11lmna-related dilated cardiomyopathy10.0

Graphical network of diseases related to Diffuse Cutaneous Mastocytosis:



Diseases related to diffuse cutaneous mastocytosis

Symptoms for Diffuse Cutaneous Mastocytosis

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Symptoms:

 47 (show all 16)
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • dermal/subcutaneous infiltration/induration
  • mastocytosis
  • urticaria
  • pruritus/itching
  • thick skin/pachydermia/orange skin
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • hypotension
  • mucosal/cutaneous hemorrhage
  • hot flushes/sensation of cold
  • malabsorption/chronic diarrhea/steatorrhea
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • hepatomegaly/liver enlargement (excluding storage disease)
  • severe allergic reaction/atopy
  • myeloproliferative syndrome/chronic leukemia

HPO human phenotypes related to Diffuse Cutaneous Mastocytosis:

(show all 14)
id Description Frequency HPO Source Accession
1 abnormal blistering of the skin hallmark (90%) HP:0008066
2 mastocytosis hallmark (90%) HP:0100495
3 pruritus typical (50%) HP:0000989
4 abnormality of skin pigmentation typical (50%) HP:0001000
5 urticaria typical (50%) HP:0001025
6 thickened skin typical (50%) HP:0001072
7 subcutaneous hemorrhage typical (50%) HP:0001933
8 hypotension typical (50%) HP:0002615
9 impaired temperature sensation typical (50%) HP:0010829
10 leukemia occasional (7.5%) HP:0001909
11 malabsorption occasional (7.5%) HP:0002024
12 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
13 hepatomegaly occasional (7.5%) HP:0002240
14 immunologic hypersensitivity occasional (7.5%) HP:0100326

Drugs & Therapeutics for Diffuse Cutaneous Mastocytosis

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Drug clinical trials:

Search ClinicalTrials for Diffuse Cutaneous Mastocytosis

Search NIH Clinical Center for Diffuse Cutaneous Mastocytosis

Genetic Tests for Diffuse Cutaneous Mastocytosis

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Anatomical Context for Diffuse Cutaneous Mastocytosis

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MalaCards organs/tissues related to Diffuse Cutaneous Mastocytosis:

31
Skin, Liver, Bone, Bone marrow, Monocytes

Animal Models for Diffuse Cutaneous Mastocytosis or affiliated genes

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Publications for Diffuse Cutaneous Mastocytosis

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Articles related to Diffuse Cutaneous Mastocytosis:

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

Variations for Diffuse Cutaneous Mastocytosis

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Expression for genes affiliated with Diffuse Cutaneous Mastocytosis

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

Pathways for genes affiliated with Diffuse Cutaneous Mastocytosis

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Compounds for genes affiliated with Diffuse Cutaneous Mastocytosis

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GO Terms for genes affiliated with Diffuse Cutaneous Mastocytosis

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Products for genes affiliated with Diffuse Cutaneous Mastocytosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Diffuse Cutaneous Mastocytosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet