MCID: CTN027
MIFTS: 27

Cutaneous Mastocytoma

Categories: Blood diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cutaneous Mastocytoma

MalaCards integrated aliases for Cutaneous Mastocytoma:

Name: Cutaneous Mastocytoma 53 59
Cutaneous Local Mastocytoma 53 59
Solitary Mastocytoma 53 59
Multiple Mastocytoma 53 59
Skin Mastocytoma 72

Characteristics:

Orphanet epidemiological data:

59
cutaneous mastocytoma
Inheritance: Not applicable; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

MESH via Orphanet 45 D054705
ICD10 via Orphanet 34 Q82.2
UMLS via Orphanet 73 C0343115
Orphanet 59 ORPHA79455
UMLS 72 C0343115

Summaries for Cutaneous Mastocytoma

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79455DefinitionCutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.EpidemiologyPrevalence is unknown but mastocytomas are the second most frequent form of CM in children, accounting for 10-15% of cases.Clinical descriptionPatients generally present during infancy, with most presenting in the first three months of life. However, rare cases of onset in adulthood have been reported. Mastocytomas usually appear as oval lesions with red-brown, pink or yellow pigmentation. The diameter varies from around 1-4 cm and the surface may be smooth or have a ''peau d'orange'' appearance. The trunk, face, neck and extremities are the most common sites of involvement. Patients with multiple mastocytomas (up to 5) have been reported with new lesions appearing at different locations up to two months after emergence of the initial lesion. Other skin manifestations may include blistering (most frequent during infancy), pruritus and urticaria. Stroking of the lesions results in Darier's sign and generalized flushing in some cases. Additional systemic symptoms are rarely associated with cutaneous mastocytomas but a few cases with fever, gastrointestinal disturbances (nausea, colic and diarrhea), headaches and asthma-like symptoms have been reported.EtiologyMutations in the KIT gene (4q11-q12) have been identified in some patients with CM, however, this mutation is rare in the pediatric population and the etiology and pathogenesis of cutaneous mastocytoma remains to be determined.Diagnostic methodsDiagnosis is made on the basis of the clinical appearance of the lesions and the presence of Darier's sign. Histopathological examinations confirm the diagnosis by revealing a dense in?ltrate of mast cells in the upper dermis.Differential diagnosisThe differential diagnosis generally includes melanocytic nevi, xanthomas and juvenile xanthogranuloma (see this term).Management and treatmentTreatment is symptomatic and includes oral administration of antihistamines, topical steroids and the use of hydrocolloid dressings to cover the lesions. Trigger factors (such as rubbing of the lesions and use of nonsteroidal anti-inflammatory drugs) should be avoided. Surgical excision provides a definitive cure for patients with alarming symptomatic lesions that do not respond to other forms of treatment and has been recommended as a first-line therapy in some cases.PrognosisThe prognosis for patients with onset during infancy is good with regression of most lesions during childhood and complete resolution by adolescence. Rare cases of persisting mastocytoma in adulthood have been reported. Spontaneous resolution is less common in patients with adult-onset.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cutaneous Mastocytoma, also known as cutaneous local mastocytoma, is related to cutaneous solitary mastocytoma and mastocytosis, cutaneous. An important gene associated with Cutaneous Mastocytoma is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase). Affiliated tissues include skin and smooth muscle, and related phenotypes are subcutaneous nodule and pruritus

Related Diseases for Cutaneous Mastocytoma

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

(show all 23)
# Related Disease Score Top Affiliating Genes
1 cutaneous solitary mastocytoma 12.7
2 mastocytosis, cutaneous 11.4
3 mast cell neoplasm 10.6
4 extracutaneous mastocytoma 10.6
5 mastocytosis 10.3
6 pulmonary alveolar microlithiasis 10.2
7 systemic mastocytosis 10.2
8 prolidase deficiency 10.0
9 dowling-degos disease 1 10.0
10 angioedema 10.0
11 hepatitis b 10.0
12 skin disease 10.0
13 granuloma annulare 10.0
14 scabies 10.0
15 hypereosinophilic syndrome 10.0
16 hypotonia 10.0
17 seizure disorder 10.0
18 rare tumor 10.0
19 langerhans cell histiocytosis 10.0
20 urticaria 10.0
21 histiocytosis 10.0
22 cellulitis 10.0
23 wells syndrome 10.0

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:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
2 pruritus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000989
3 urticaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001025
4 cutaneous mastocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0200151
5 thickened skin 59 32 frequent (33%) Frequent (79-30%) HP:0001072
6 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
7 abnormal blistering of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0008066
8 hypermelanotic macule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001034
9 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
10 abnormality of skin pigmentation 59 Very frequent (99-80%)

Drugs & Therapeutics for Cutaneous Mastocytoma

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
2 Adaptation of the Questionnaire "Regarding Patient's Quality of Life With Mastocytosis" in the French Language Completed NCT03632811
3 Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations Active, not recruiting NCT02761473

Search NIH Clinical Center for Cutaneous Mastocytoma

Genetic Tests for Cutaneous Mastocytoma

Anatomical Context for Cutaneous Mastocytoma

MalaCards organs/tissues related to Cutaneous Mastocytoma:

41
Skin, Smooth Muscle

Publications for Cutaneous Mastocytoma

Articles related to Cutaneous Mastocytoma:

(show top 50) (show all 111)
# Title Authors PMID Year
1
Cutaneous mastocytoma associated with abundant eosinophil infiltration and flame figures. 38
31034654 2019
2
Perioperative anaphylaxis in a patient with a solitary mastocytoma. 38
30854701 2019
3
Childhood Solitary Cutaneous Mastocytoma: Clinical Manifestations, Diagnosis, Evaluation, and Management. 38
30465511 2019
4
Solitary mastocytoma presenting at birth. 38
29716178 2018
5
Dermoscopy of Cutaneous Mastocytoma. 38
29854655 2018
6
Solitary mastocytoma in the eyelid of an adult. 38
29468227 2018
7
Pleomorphic mastocytoma in an adult. 38
29148588 2018
8
Estimating canine cancer incidence: findings from a population-based tumour registry in northwestern Italy. 38
28659149 2017
9
Rare cause of recurrent urticaria in childhood and its unusual presentation: Solitary mastocytoma on vulva. 38
27206703 2017
10
Solitary Mastocytoma of the Eyelid in an Adult Patient With Prolidase Deficiency. 38
25603535 2017
11
[Diffuse cutaneous mastocytosis of an infant: A case report]. 38
27670724 2016
12
Solitary mastocytoma presenting in an adult: report and literature review of adult-onset solitary cutaneous mastocytoma with recommendations for evaluation and treatment. 38
27648381 2016
13
Cutaneous form of maculopapular mastocytosis in a foal. 38
27109586 2016
14
Congenital cutaneous Langerhans cell histiocytosis and cutaneous mastocytoma in a child. 38
27617456 2016
15
Solitary mastocytoma with positive Darier's sign. 38
27057508 2016
16
Cutaneous manifestations in patients with mastocytosis: Consensus report of the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology. 38
26476479 2016
17
Large maculopapular cutaneous lesions are associated with favorable outcome in childhood-onset mastocytosis. 38
26152315 2015
18
Topical corticosteroids versus "wait and see" in the management of solitary mastocytoma in pediatric patients: a long-term follow-up. 38
25471152 2015
19
Solitary mastocytoma mimicking granuloma faciale. 38
25257118 2014
20
Asymptomatic solitary cutaneous mastocytoma: a rare presentation. 38
25484432 2014
21
Solitary mastocytoma of the vulva. 38
24800094 2014
22
Case Report: Solitary mastocytoma treated successfully with topical tacrolimus. 38
25210620 2014
23
Identification of KIT activating mutations in paediatric solitary mastocytoma. 38
24128084 2014
24
Pediatric Mastocytosis: A Review of the Literature. 38
24380017 2013
25
Solitary mastocytoma of the eyelid. 38
23871296 2013
26
Mast cell sarcoma in an infant: a case report and review of the literature. 38
23211696 2013
27
Solitary mastocytoma with associated pseudocarcinomatous hyperplasia. 38
23252514 2013
28
Death from mast cell leukemia: a young patient with longstanding cutaneous mastocytosis evolving into fatal mast cell leukemia. 38
22329485 2012
29
Dermacase: Can you identify this condition? Solitary mastocytoma. 38
22977914 2012
30
Malignant transformation of mastocytoma developed on skin mastocytosis into cutaneous mast cell sarcoma. 38
22498828 2012
31
Solitary mastocytoma in an adult with an unusual clinical presentation. 38
21839341 2011
32
Solitary mastocytoma with histologic features of eosinophilic cellulites. 38
21540136 2011
33
Pathology quiz case 1. Pediatric solitary mastocytoma. 38
21768423 2011
34
Inhibitory effect of ganglioside on mastoparan-induced cytotoxicity and degranulation in lipid raft of connective tissue type mast cell. 38
21671308 2011
35
[Cutaneous mastocytoma: A brief literature review and report of two cases]. 38
21967973 2011
36
Telangiectasia macularis eruptiva perstans: more than skin deep. 38
25386256 2011
37
A solitary mastocytoma presenting with urticaria and angioedema in a 14-year-old boy. 38
21708063 2010
38
A 3-month-old with a blistering plaque. 38
20875331 2010
39
A rare presentation of solitary mastocytoma in the palm of an infant. 38
19502121 2010
40
Scabies presenting as solitary mastocytoma-like eruption in an infant. 38
19689539 2009
41
Solitary mastocytoma occurring at a site of trauma. 38
19397569 2009
42
Most common clinical presentations of cutaneous mastocytosis. 38
19623875 2009
43
Solitary mastocytoma: tooth eruption as triggering factor. 38
19126015 2008
44
Cutaneous mastocytosis: a review focusing on the pediatric population. 38
18502981 2008
45
Tea catechins have dual effect on mast cell degranulation induced by compound 48/80. 38
18602066 2008
46
Adult onset, hypopigmented solitary mastocytoma: report of two cases. 38
18187823 2008
47
Inhibition of NADPH oxidase subunits translocation by tea catechin EGCG in mast cell. 38
17707774 2007
48
Plane xanthoma associated with multiple mastocytoma. 38
17958784 2007
49
Flushing and increase of serum tryptase after mechanical irritation of a solitary mastocytoma. 38
17540642 2007
50
A 6-month old with total body flushing and a macular-papular lesion. 38
17505276 2007

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
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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