hereditary progressive mucinous histiocytosis
Findings
No curated finding names hereditary progressive mucinous histiocytosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.
Definition from the Mondo Disease Ontology (MONDO:0007725), read 2026-09-29. CC BY 4.0.
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Erythematous maculeHPOHP:0025475
- Very frequent (80% to 99% of cases)
- Erythematous papuleHPOHP:0030350
- Very frequent (80% to 99% of cases)
- Mucinous histiocytosisHPOHP:0040138
- Very frequent (80% to 99% of cases)
- PruritusHPOHP:0000989
- Occasional (5% to 29% of cases)
Reported absent (2)
- Abnormal Langerhans cell morphologyHPOHP:0031871
- LymphadenopathyHPOHP:0002716
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PDGFRBHGNC:8804
- Limited · G2P · Autosomal dominant · 2025
Where it sits
- A kind of