MCID: CTN027
MIFTS: 25

Cutaneous Mastocytoma malady

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

Aliases & Classifications for Cutaneous Mastocytoma

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Sources:
30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Cutaneous Mastocytoma:

Name: Cutaneous Mastocytoma 47 53
Cutaneous Local Mastocytoma 47 53
Solitary Mastocytoma 47 53
 
Multiple Mastocytoma 47 53
Skin Mastocytoma 67

Characteristics:

Orphanet epidemiological data:

53
cutaneous local mastocytoma:
Inheritance: Not applicable; Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet53 ORPHA79455
UMLS via Orphanet68 C0343115
ICD10 via Orphanet30 Q82.2
MESH via Orphanet39 D054705

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 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 mastocytoma12.1
2mastocytosis9.9
3systemic mastocytosis9.7
4histiocytosis9.7
5cellulitis9.7
6cutaneous mastocytosis9.7
7diffuse cutaneous mastocytosis9.7
8urticaria9.7

Graphical network of diseases related to Cutaneous Mastocytoma:



Diseases related to cutaneous mastocytoma

Symptoms for Cutaneous Mastocytoma

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Human phenotypes related to Cutaneous Mastocytoma:

 63 53 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus63 53 hallmark (90%) Very frequent (99-80%) HP:0000989
2 urticaria63 53 hallmark (90%) Very frequent (99-80%) HP:0001025
3 hypermelanotic macule63 53 hallmark (90%) Occasional (29-5%) HP:0001034
4 abnormal blistering of the skin63 53 hallmark (90%) Occasional (29-5%) HP:0008066
5 mastocytosis63 hallmark (90%) HP:0100495
6 thickened skin63 53 typical (50%) Frequent (79-30%) HP:0001072
7 abdominal pain63 53 occasional (7.5%) Occasional (29-5%) HP:0002027
8 migraine63 occasional (7.5%) HP:0002076
9 impaired temperature sensation63 occasional (7.5%) HP:0010829
10 abnormality of skin pigmentation53 Very frequent (99-80%)
11 subcutaneous nodule53 Very frequent (99-80%)
12 headache53 Occasional (29-5%)
13 cutaneous mastocytosis53 Very frequent (99-80%)

Drugs & Therapeutics for Cutaneous Mastocytoma

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A 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 HandicapUnknown statusNCT00814073Phase 3
2Study on Mastocytosis for Rupatadine TreatmentCompletedNCT01481909Phase 2, Phase 3
3Efficacy and Safety of TF002 in Cutaneous MastocytosisCompletedNCT00457288Phase 2
4Natural History of Urticaria Pigmentosa in ChildrenCompletedNCT00467792
5Diagnostic Value of Bone Marrow Tryptase in Systemic MastocytosisRecruitingNCT02441166
6Mast Cell Connect: A Registry for Patients With MastocytosisRecruitingNCT02620254
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:

35
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet