- 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: Very frequent (HP:0040281). (ORPHA:79399)
- Lamina lucida cleavage (HP:0003341): The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79399)
- Skin fragility with non-scarring blistering (HP:0007585). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79399)
- 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:79399)
- Spotty hyperpigmentation (HP:0005585). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79399)
- Spotty hypopigmentation (HP:0005590). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79399)
- Plantar hyperkeratosis (HP:0007556): Hyperkeratosis affecting the sole of the foot. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79399)
- Palmar hyperkeratosis (HP:0010765): Abnormal thickening of the skin localized to the palm of the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79399)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79399)
- Hypermelanotic macule (HP:0001034): A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79399)
- 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:79399)
- 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: Occasional (HP:0040283). (ORPHA:79399)
- Mixed hypo- and hyperpigmentation of the skin (HP:0009123). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79399)
- Hypomelanotic macule (HP:0009719): Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79399)
- Oral mucosal blisters (HP:0200097): Blisters arising in the mouth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79399)
- 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 rare (HP:0040284). (ORPHA:79399)
- 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: Very rare (HP:0040284). (ORPHA:79399)
These phenotypes are associated with the disease Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form (ORPHA:79399).