MCID: CTN027
MIFTS: 27

Cutaneous Mastocytoma

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

Aliases & Classifications for Cutaneous Mastocytoma

MalaCards integrated aliases for Cutaneous Mastocytoma:

Name: Cutaneous Mastocytoma 50 56
Cutaneous Local Mastocytoma 50 56
Solitary Mastocytoma 50 56
Multiple Mastocytoma 50 56
Skin Mastocytoma 69

Characteristics:

Orphanet epidemiological data:

56
cutaneous mastocytoma
Inheritance: Not applicable; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 56 ORPHA79455
MESH via Orphanet 43 D054705
UMLS via Orphanet 70 C0343115
ICD10 via Orphanet 34 Q82.2

Summaries for Cutaneous Mastocytoma

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on cutaneous mastocytosis.

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

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

id Related Disease Score Top Affiliating Genes
1 cutaneous solitary mastocytoma 12.1
2 cutaneous mastocytosis 11.3
3 systemic mastocytosis 9.7
4 histiocytosis 9.7
5 cellulitis 9.7
6 diffuse cutaneous mastocytosis 9.7
7 urticaria 9.7

Graphical network of the top 20 diseases related to Cutaneous Mastocytoma:



Diseases related to Cutaneous Mastocytoma

Symptoms & Phenotypes for Cutaneous Mastocytoma

Human phenotypes related to Cutaneous Mastocytoma:

56 32 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000989
2 urticaria 56 32 hallmark (90%) Very frequent (99-80%) HP:0001025
3 hypermelanotic macule 56 32 occasional (7.5%) Occasional (29-5%) HP:0001034
4 thickened skin 56 32 frequent (33%) Frequent (79-30%) HP:0001072
5 subcutaneous nodule 56 32 hallmark (90%) Very frequent (99-80%) HP:0001482
6 abdominal pain 56 32 occasional (7.5%) Occasional (29-5%) HP:0002027
7 headache 56 32 occasional (7.5%) Occasional (29-5%) HP:0002315
8 abnormal blistering of the skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0008066
9 cutaneous mastocytosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0200151
10 abnormality of skin pigmentation 56 Very frequent (99-80%)

Drugs & Therapeutics for Cutaneous Mastocytoma

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 A 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 Handicap Unknown status NCT00814073 Phase 3 masitinib (AB1010);placebo
2 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
3 Natural History of Urticaria Pigmentosa in Children Completed NCT00467792
4 Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations Recruiting NCT02761473
5 Diagnostic Value of Bone Marrow Tryptase in Systemic Mastocytosis Recruiting NCT02441166
6 Evaluation of Patient Satisfaction With and Acceptance of Their Totally-implanted Central Venous Catheter Terminated NCT01616537

Search NIH Clinical Center for Cutaneous Mastocytoma

Genetic Tests for Cutaneous Mastocytoma

Anatomical Context for Cutaneous Mastocytoma

MalaCards organs/tissues related to Cutaneous Mastocytoma:

39
Skin, Bone, Bone Marrow

Publications for Cutaneous Mastocytoma

Articles related to Cutaneous Mastocytoma:

(show all 11)
id Title Authors Year
1
Congenital cutaneous Langerhans cell histiocytosis and cutaneous mastocytoma in a child. ( 27617456 )
2016
2
Solitary mastocytoma presenting in an adult: report and literature review of adult-onset solitary cutaneous mastocytoma with recommendations for evaluation and treatment. ( 27648381 )
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
Equine cutaneous mastocytoma: morphology, biological behaviour and evolution of the lesion. ( 1865026 )
1991
7
Eosinophilic cellulitis: histologic features in a cutaneous mastocytoma. ( 1904827 )
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

Expression for Cutaneous Mastocytoma

Search GEO for disease gene expression data for Cutaneous Mastocytoma.

Pathways for Cutaneous Mastocytoma

GO Terms for Cutaneous Mastocytoma

Sources for Cutaneous Mastocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....