Phenotypes associated with the disease Localized epidermolysis bullosa simplex (ORPHA:79400, an Orphanet rare-disease identifier):
- Pruritus (HP:0000989, a Human Phenotype Ontology term): 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: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:79400)
- Lamina lucida cleavage (HP:0003341, a Human Phenotype Ontology term): The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:79400)
- Palmoplantar blistering (HP:0007446, a Human Phenotype Ontology term): A type of blistering that affects the skin of the palms of the hands and the soles of the feet. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:79400)
- Focal friction-related palmoplantar hyperkeratosis (HP:0007497, a Human Phenotype Ontology term): Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:79400)
- Skin fragility with non-scarring blistering (HP:0007585, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:79400)
- Abnormal blistering of the skin (HP:0008066, a Human Phenotype Ontology term): 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: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:79400)
- Foot pain (HP:0025238, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:79400)
- Heat intolerance (HP:0002046, a Human Phenotype Ontology term): The inability to maintain a comfortable body temperature in warm or hot weather. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:79400)
- Paresthesia (HP:0003401, a Human Phenotype Ontology term): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:79400)
- Acute episodes of neuropathic symptoms (HP:0003489, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:79400)
- Upper limb pain (HP:0012513, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:79400)
- 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: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:79400)
- Hyperhidrosis (HP:0000975, a Human Phenotype Ontology term): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:79400)
- Plantar hyperkeratosis (HP:0007556, a Human Phenotype Ontology term): Hyperkeratosis affecting the sole of the foot. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:79400)
- Palmar hyperkeratosis (HP:0010765, a Human Phenotype Ontology term): Abnormal thickening of the skin localized to the palm of the hand. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:79400)
- Erosion of oral mucosa (HP:0031446, a Human Phenotype Ontology term): Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:79400)
- Skin erosion (HP:0200041, a Human Phenotype Ontology term): A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:79400)
- Milia (HP:0001056, a Human Phenotype Ontology term): Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:79400)
- Atrophic scars (HP:0001075, a Human Phenotype Ontology term): Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:79400)
- Nail dystrophy (HP:0008404, a Human Phenotype Ontology term): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:79400)
- Erythematous papule (HP:0030350, a Human Phenotype Ontology term): A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:79400)
- Oral mucosal blisters (HP:0200097, a Human Phenotype Ontology term): Blisters arising in the mouth. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:79400)
Not associated with this disease:
- Mixed hypo- and hyperpigmentation of the skin (HP:0009123, a Human Phenotype Ontology term). Evidence: TAS. (ORPHA:79400)