- Eruptive xanthomas (HP:0001013, a Human Phenotype Ontology term): Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:158008)
- Histiocytosis (HP:0100727, a Human Phenotype Ontology term): An excessive number of histiocytes (tissue macrophages). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:158008)
- Skin plaque (HP:0200035, a Human Phenotype Ontology term): A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:158008)
These phenotypes are associated with the disease Papular xanthoma (ORPHA:158008, an Orphanet rare-disease identifier).
The following phenotypes are NOT associated with this disease:
- Hyperlipidemia (HP:0003077, a Human Phenotype Ontology term): An elevated lipid concentration in the blood. Evidence: TAS. (ORPHA:158008)