Phenotypes associated with the disease Diffuse palmoplantar keratoderma, Bothnian type (ORPHA:2337):
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2337)
- Diffuse palmoplantar hyperkeratosis (HP:0007447): Diffuse abnormal thickening of the skin on the palms and soles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2337)
- 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: Frequent (HP:0040282). (ORPHA:2337)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2337)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2337)
- Chronic tinea infection (HP:0032259): The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2337)
- Knuckle pad (HP:0032541): Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2337)
- Papule (HP:0200034): A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2337)
- Skin ulcer (HP:0200042): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2337)
- Ridged nail (HP:0001807): Longitudinal, linear prominences in the nail plate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2337)