Diffuse cutaneous mastocytosis

Summary

Diffuse cutaneous mastocytosis (MONDO:0019315) is a disease. A subtype of cutaneous mastocytosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 31

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		30	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

31 HPO clinical features (Orphanet curated; top 31 by frequency):

HPO ID	Term	Frequency
HP:0000989	Pruritus	Very frequent (80-99%)
HP:0011354	Generalized abnormality of skin	Very frequent (80-99%)
HP:0025081	Darier’s sign	Very frequent (80-99%)
HP:0031284	Flushing	Very frequent (80-99%)
HP:0031901	Increased serum mast cell beta-tryptase concentration	Very frequent (80-99%)
HP:0001025	Urticaria	Frequent (30-79%)
HP:0001072	Thickened skin	Frequent (30-79%)
HP:0002013	Vomiting	Frequent (30-79%)
HP:0002014	Diarrhea	Frequent (30-79%)
HP:0002315	Headache	Frequent (30-79%)
HP:0002615	Hypotension	Frequent (30-79%)
HP:0004395	Malnutrition	Frequent (30-79%)
HP:0008066	Abnormal blistering of the skin	Frequent (30-79%)
HP:0025533	Peau d’orange	Frequent (30-79%)
HP:0100827	Lymphocytosis	Frequent (30-79%)
HP:0100845	Anaphylactic shock	Frequent (30-79%)
HP:0200041	Skin erosion	Frequent (30-79%)
HP:0001019	Erythroderma	Occasional (5-29%)
HP:0001392	Abnormality of the liver	Occasional (5-29%)
HP:0001945	Fever	Occasional (5-29%)
HP:0002027	Abdominal pain	Occasional (5-29%)
HP:0002239	Gastrointestinal hemorrhage	Occasional (5-29%)
HP:0002240	Hepatomegaly	Occasional (5-29%)
HP:0009123	Mixed hypo- and hyperpigmentation of the skin	Occasional (5-29%)
HP:0011971	Dermatographic urticaria	Occasional (5-29%)
HP:0030828	Wheezing	Occasional (5-29%)
HP:0040189	Scaling skin	Occasional (5-29%)
HP:0001743	Abnormality of the spleen	Very rare (<1-4%)
HP:0002716	Lymphadenopathy	Very rare (<1-4%)
HP:0005547	Myeloproliferative disorder	Very rare (<1-4%)
HP:0005561	Abnormality of bone marrow cell morphology	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	diffuse cutaneous mastocytosis
Mondo ID	MONDO:0019315
Orphanet	79456
DOID	DOID:3665
ICD-11	193128939
NCIT	C3218
UMLS	C0024901
MedGen	44303
GARD	0012686
MedDRA	10012812
Is cancer (heuristic)	no

Also known as: DCM · diffuse cutaneous maculopapulous mastocytosis · diffuse cutaneous mastocytosis

Disease family

This is a subtype of cutaneous mastocytosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › skin neoplasm › dermis tumor › cutaneous mastocytosis › diffuse cutaneous mastocytosis

Related subtypes (2): cutaneous mastocytoma, maculopapular cutaneous mastocytosis

Subtypes (2): bullous diffuse cutaneous mastocytosis, pseudoxanthomatous diffuse cutaneous mastocytosis

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.