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diffuse cutaneous mastocytosis (DCM) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

diffuse cutaneous mastocytosis

MONDO:0019315

Also known as:DCMdiffuse cutaneous maculopapulous mastocytosis

Overview

Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).

ResearchLimited published research (9 articles)

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: Pruritus, Generalized abnormality of skin, Darier's sign, and Flushing and others; and common findings: Urticaria, Thickened skin, Vomiting, and Diarrhea and others. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	9	Pruritus, Generalized abnormality of skin, Urticaria

Prognosis

Phenotype severity distribution: 5 very common features, 12 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 diffuse cutaneous mastocytosis.

9 publications have been identified in PubMed for diffuse cutaneous mastocytosis. Research spans Review / Meta-Analysis (44%), Case Report / Case Series (44%), and Basic Science / Preclinical (11%).

Recent Publications

Carter MC (2026). [PMID: 41285204](https://pubmed.ncbi.nlm.nih.gov/41285204/). *The journal of allergy and clinical immunology. In practice*. [Review / Meta-Analysis]
Kasmi D (2026). [PMID: 41836292](https://pubmed.ncbi.nlm.nih.gov/41836292/). *Frontiers in cell and developmental biology*. [Basic Science / Preclinical]
Giavina-Bianchi M (2026). [PMID: 41958536](https://pubmed.ncbi.nlm.nih.gov/41958536/). *J Allergy Clin Immunol Glob*. [Case Report / Case Series]
Chang J (2025). [PMID: 41060361](https://pubmed.ncbi.nlm.nih.gov/41060361/). *Pediatric dermatology*. [Case Report / Case Series]
Pernea P (2025). [PMID: 40434754](https://pubmed.ncbi.nlm.nih.gov/40434754/). *JAMA dermatology*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 7:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79456

GARD

Genetic and Rare Diseases Info Center

GARD:12686

Questions for Your Care Team

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diffuse cutaneous mastocytosis

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

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