Phenotypes associated with the disease Dystrophic epidermolysis bullosa pruriginosa (ORPHA:89843):
- 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: Very frequent (HP:0040281). (ORPHA:89843)
- 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: Very frequent (HP:0040281). (ORPHA:89843)
- Abnormality of the wrist (HP:0003019): Abnormality of the wrist, the structure connecting the hand and the forearm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89843)
- Nail dystrophy (HP:0008404): 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: Frequent (HP:0040282). (ORPHA:89843)
- Abnormality of the elbow (HP:0009811): An anomaly of the joint that connects the upper and the lower arm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89843)
- Pretibial blistering (HP:0012221): A type of blistering that affects the skin of the tibial region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89843)
- Lichenification (HP:0100725): Thickening and hardening of the epidermis seen with exaggeration of normal skin lines. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89843)
- Skin plaque (HP:0200035): A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89843)
- Abnormality of head or neck (HP:0000152): An abnormality of head and neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89843)
- Hyperkeratosis (HP:0000962): Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89843)
- Milia (HP:0001056): 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: Occasional (HP:0040283). (ORPHA:89843)
- Atrophic scars (HP:0001075): 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: Occasional (HP:0040283). (ORPHA:89843)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89843)
- Abnormal forearm morphology (HP:0002973): An abnormality of the lower arm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89843)
- Lamina lucida cleavage (HP:0003341): The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89843)
- Dermal atrophy (HP:0004334): Partial or complete wasting (atrophy) of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89843)
- Abnormal toenail morphology (HP:0008388): An anomaly of the toenail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89843)
- Scarring (HP:0100699): A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89843)
- 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: Occasional (HP:0040283). (ORPHA:89843)
- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:89843)