MCID: CTN027
MIFTS: 26

Cutaneous Mastocytoma malady

Categories: Rare diseases, Skin diseases, Immune diseases, Blood diseases, Cancer diseases

Aliases & Classifications for Cutaneous Mastocytoma

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Cutaneous Mastocytoma:

Name: Cutaneous Mastocytoma 45 51
Cutaneous Local Mastocytoma 45 51
Multiple Mastocytoma 45 51
 
Solitary Mastocytoma 45 51
Skin Mastocytoma 65

Characteristics:

Orphanet epidemiological data:

51
cutaneous local mastocytoma:
Inheritance: Not applicable; Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet51 79455
ICD10 via Orphanet28 Q82.2
MESH via Orphanet37 D054705
UMLS via Orphanet66 C0343115
UMLS65 C0343115

Summaries for Cutaneous Mastocytoma

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MalaCards based summary: Cutaneous Mastocytoma, also known as cutaneous local mastocytoma, is related to cutaneous solitary mastocytoma and cutaneous mastocytosis, and has symptoms including pruritus, urticaria and hypermelanotic macule. An important gene associated with Cutaneous Mastocytoma is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase). Affiliated tissues include skin, bone and bone marrow.

Related Diseases for Cutaneous Mastocytoma

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1cutaneous solitary mastocytoma12.3
2cutaneous mastocytosis10.6
3urticaria10.0
4mastocytosis10.0
5prolidase deficiency9.9
6angioedema9.9
7scabies9.9
8seizure disorder9.9
9systemic mastocytosis9.9
10cellulitis9.9
11diffuse cutaneous mastocytosis9.9

Graphical network of diseases related to Cutaneous Mastocytoma:



Diseases related to cutaneous mastocytoma

Symptoms for Cutaneous Mastocytoma

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Symptoms:

 51 (show all 11)
  • urticaria
  • macules
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • pruritus/itching
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • mastocytosis
  • thick skin/pachydermia/orange skin
  • acute abdominal pain/colic
  • facial pain/cephalalgia/migraine
  • hot flushes/sensation of cold

HPO human phenotypes related to Cutaneous Mastocytoma:

(show all 9)
id Description Frequency HPO Source Accession
1 pruritus hallmark (90%) HP:0000989
2 urticaria hallmark (90%) HP:0001025
3 hypermelanotic macule hallmark (90%) HP:0001034
4 abnormal blistering of the skin hallmark (90%) HP:0008066
5 mastocytosis hallmark (90%) HP:0100495
6 thickened skin typical (50%) HP:0001072
7 abdominal pain occasional (7.5%) HP:0002027
8 migraine occasional (7.5%) HP:0002076
9 impaired temperature sensation occasional (7.5%) HP:0010829

Drugs & Therapeutics for Cutaneous Mastocytoma

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Drugs for Cutaneous Mastocytoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Contraceptives, OralPhase 2, Phase 33734

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study on Mastocytosis for Rupatadine TreatmentCompletedNCT01481909Phase 2, Phase 3
2A Phase 3 Study to Compare Efficacy and Safety of Masitinib to Placebo in the Treatment of Patients With Smouldering Systemic, Indolent Systemic or Cutaneous Mastocytosis With HandicapRecruitingNCT00814073Phase 3
3Efficacy and Safety of TF002 in Cutaneous MastocytosisCompletedNCT00457288Phase 2
4Natural History of Urticaria Pigmentosa in ChildrenCompletedNCT00467792
5Mast Cell Connect: A Registry for Patients With MastocytosisRecruitingNCT02620254
6Diagnostic Value of Bone Marrow Tryptase in Systemic MastocytosisRecruitingNCT02441166
7Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline MutationsNot yet recruitingNCT02761473
8Evaluation of Patient Satisfaction With and Acceptance of Their Totally-implanted Central Venous CatheterTerminatedNCT01616537

Search NIH Clinical Center for Cutaneous Mastocytoma

Genetic Tests for Cutaneous Mastocytoma

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Anatomical Context for Cutaneous Mastocytoma

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MalaCards organs/tissues related to Cutaneous Mastocytoma:

33
Skin, Bone, Bone marrow, Lung, Heart

Animal Models for Cutaneous Mastocytoma or affiliated genes

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Publications for Cutaneous Mastocytoma

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Articles related to Cutaneous Mastocytoma:

idTitleAuthorsYear
1
Asymptomatic solitary cutaneous mastocytoma: a rare presentation. (25484432)
2014
2
Flushing due to solitary cutaneous mastocytoma can be prevented by hydrocolloid dressings. (15165209)
2004
3
Congenital multiple cutaneous mastocytoma. (20948030)
1996
4
Equine cutaneous mastocytoma: morphology, biological behaviour and evolution of the lesion. (1865026)
1991
5
Eosinophilic cellulitis: histologic features in a cutaneous mastocytoma. (1904827)
1991
6
Systemic mastocytosis with extensive large cutaneous mastocytomas: surgical management. (3935876)
1985
7
Cutaneous mastocytoma in a ferret. (6432756)
1984
8
A new syndrome of symptomatic cutaneous mastocytoma producing vasoactive intestinal polypeptide. (6800875)
1982
9
Diffuse cutaneous mastocytosis with multiple cutaneous mastocytomas. Report of a case with clinical, histopathological and ultrastructural aspects. (6770887)
1980

Variations for Cutaneous Mastocytoma

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Expression for genes affiliated with Cutaneous Mastocytoma

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Search GEO for disease gene expression data for Cutaneous Mastocytoma.

Pathways for genes affiliated with Cutaneous Mastocytoma

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GO Terms for genes affiliated with Cutaneous Mastocytoma

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Sources for Cutaneous Mastocytoma

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet