MCID: CTN027
MIFTS: 23

Cutaneous Mastocytoma malady

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

Aliases & Classifications for Cutaneous Mastocytoma

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Sources:
46NIH Rare Diseases, 52Orphanet, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Cutaneous Mastocytoma:

Name: Cutaneous Mastocytoma 46 52
Cutaneous Local Mastocytoma 46 52
Solitary Mastocytoma 46 52
 
Multiple Mastocytoma 46 52
Skin Mastocytoma 66

Characteristics:

Orphanet epidemiological data:

52
cutaneous local mastocytoma:
Inheritance: Not applicable; Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet52 ORPHA79455
ICD10 via Orphanet29 Q82.2
MESH via Orphanet38 D054705
UMLS via Orphanet67 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:

idRelated DiseaseScoreTop Affiliating Genes
1cutaneous solitary mastocytoma12.3
2cutaneous mastocytosis10.6
3mastocytosis10.0
4systemic mastocytosis9.9
5langerhans-cell histiocytosis9.9
6histiocytosis9.9
7cellulitis9.9
8diffuse cutaneous mastocytosis9.9
9urticaria9.8

Graphical network of diseases related to Cutaneous Mastocytoma:



Diseases related to cutaneous mastocytoma

Symptoms for Cutaneous Mastocytoma

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Symptoms:

 52 (show all 10)
  • pruritus
  • abnormality of skin pigmentation
  • urticaria
  • hypermelanotic macule
  • thickened skin
  • subcutaneous nodule
  • abdominal pain
  • headache
  • abnormal blistering of the skin
  • cutaneous mastocytosis

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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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:

34
Skin, Bone, Bone marrow

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:

(show all 11)
idTitleAuthorsYear
1
Solitary mastocytoma presenting in an adult: report and literature review of adult-onset solitary cutaneous mastocytoma with recommendations for evaluation and treatment. (27648381)
2016
2
Congenital cutaneous Langerhans cell histiocytosis and cutaneous mastocytoma in a child. (27617456)
2016
3
Asymptomatic solitary cutaneous mastocytoma: a rare presentation. (25484432)
2014
4
Flushing due to solitary cutaneous mastocytoma can be prevented by hydrocolloid dressings. (15165209)
2004
5
Congenital multiple cutaneous mastocytoma. (20948030)
1996
6
Eosinophilic cellulitis: histologic features in a cutaneous mastocytoma. (1904827)
1991
7
Equine cutaneous mastocytoma: morphology, biological behaviour and evolution of the lesion. (1865026)
1991
8
Systemic mastocytosis with extensive large cutaneous mastocytomas: surgical management. (3935876)
1985
9
Cutaneous mastocytoma in a ferret. (6432756)
1984
10
A new syndrome of symptomatic cutaneous mastocytoma producing vasoactive intestinal polypeptide. (6800875)
1982
11
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet