Generalized eruptive histiocytosis

Summary

Generalized eruptive histiocytosis (MONDO:0015532) is a disease. A subtype of non-Langerhans cell histiocytosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Europe)
• Phenotypes (HPO): 12

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	<1 / 1 000 000		Europe	Not yet validated

Signs & symptoms

Clinical features (HPO)

12 HPO clinical features (Orphanet curated; top 12 by frequency):

HPO ID	Term	Frequency
HP:0025475	Erythematous macule	Very frequent (80-99%)
HP:0030350	Erythematous papule	Very frequent (80-99%)
HP:0100727	Histiocytosis	Very frequent (80-99%)
HP:0040186	Maculopapular exanthema	Frequent (30-79%)
HP:0000989	Pruritus	Occasional (5-29%)
HP:0031901	Increased serum mast cell beta-tryptase concentration	Occasional (5-29%)
HP:0032061	Hypereosinophilia	Occasional (5-29%)
HP:0040126	Abnormal vitamin B12 level	Occasional (5-29%)
HP:0002716	Lymphadenopathy	Excluded (0%)
HP:0031871	Abnormal Langerhans cell morphology	Excluded (0%)
HP:0001909	Leukemia	Very rare (<1-4%)
HP:0005585	Spotty hyperpigmentation	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	generalized eruptive histiocytosis
Mondo ID	MONDO:0015532
Orphanet	157991
SNOMED CT	110980006
UMLS	C0347404
MedGen	578001
GARD	0020018
Is cancer (heuristic)	no

Also known as: generalised eruptive histiocytoma · generalized eruptive histiocytoma

Disease family

This is a subtype of non-Langerhans cell histiocytosis. 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 body system or component › immune system disorder › lymphoid system disorder › lymphatic system disorder › histiocytosis › non-Langerhans cell histiocytosis › generalized eruptive histiocytosis

Related subtypes (14): Niemann-Pick disease, sinus histiocytosis with massive lymphadenopathy, hereditary progressive mucinous histiocytosis, sea-blue histiocyte syndrome, multicentric reticulohistiocytosis, benign cephalic histiocytosis, juvenile xanthogranuloma, xanthoma disseminatum, papular xanthoma, necrobiotic xanthogranuloma, indeterminate dendritic cell tumor, progressive nodular histiocytosis, Erdheim-Chester disease, xanthogranuloma

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.