Phenotypes associated with the disease Epidermolysis bullosa simplex with circinate migratory erythema (ORPHA:158681):
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158681)
- 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:158681)
- Parakeratosis (HP:0001036): Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158681)
- Lamina lucida cleavage (HP:0003341): The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158681)
- Spotty hyperpigmentation (HP:0005585). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158681)
- Generalized hypopigmentation (HP:0007513). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158681)
- Skin fragility with non-scarring blistering (HP:0007585). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158681)
- 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:158681)
- Acral blistering (HP:0031045): Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158681)
- Erythema migrans (HP:0031180): An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158681)
- Skin vesicle (HP:0200037): A circumscribed, fluid-containing, epidermal elevation less than 10mm in diameter at the widest point that (i) Contain serous exudates or serum mixed with blood or pus; (ii) Are discrete, grouped, irregularly distributed, or linear as in Rhus dermatitis; (iii) Are short-lived. Vesicles may break spontaneously or evolve into bullae by enlarging or coalescing with other vesicles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158681)
- Abnormality of the neck (HP:0000464): An abnormality of the neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158681)
- Abnormality of the knee (HP:0002815): An abnormality of the knee joint or surrounding structures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158681)
- Generalized reticulate brown pigmentation (HP:0007599). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158681)
- Pretibial blistering (HP:0012221): A type of blistering that affects the skin of the tibial region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158681)
Not associated with this disease:
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: TAS. (ORPHA:158681)
- Palmoplantar hyperkeratosis (HP:0000972): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: TAS. (ORPHA:158681)
- 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. (ORPHA:158681)
- Oral mucosal blisters (HP:0200097): Blisters arising in the mouth. Evidence: TAS. (ORPHA:158681)