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cutaneous mastocytoma - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cutaneous mastocytoma

MONDO:0019314

Also known as:cutaneous local mastocytomamultiple mastocytomasolitary mastocytoma

Overview

Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) 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.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Darier's sign; and common findings: Pruritus, Hypermelanotic macule, Diarrhea, and Macule and others. 30 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	15	Pruritus, Hyperpigmented papule, Erythematous papule

Diagnosis

Biomarker and diagnostic research for cutaneous mastocytoma has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature, 10 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cutaneous mastocytoma.

14 publications have been identified in PubMed for cutaneous mastocytoma. Research spans Case Report / Case Series (38%), Diagnostic / Biomarker (23%), and Epidemiology / Natural History (23%).

Research Type	Count	% of Total
Patient case studies	5	38%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79455

GARD

Genetic and Rare Diseases Info Center

GARD:12687

Questions for Your Care Team

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Kisho

cutaneous mastocytoma

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

cutaneous mastocytoma

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications