- Erythematous macule (HP:0025475): A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:158025)
- Erythematous papule (HP:0030350): A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:158025)
- Mucinous histiocytosis (HP:0040138): Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:158025)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158025)
These phenotypes are associated with the disease Hereditary progressive mucinous histiocytosis (ORPHA:158025).
The following phenotypes are NOT associated with this disease:
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. (ORPHA:158025)
- Abnormal Langerhans cell morphology (HP:0031871): Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis. Evidence: TAS. (ORPHA:158025)