- Mottled pigmentation (HP:0001070): Patchy and irregular skin pigmentation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79397)
- 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:79397)
- Reticulated skin pigmentation (HP:0007427). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79397)
- Skin fragility with non-scarring blistering (HP:0007585). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79397)
- 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:79397)
- Mixed hypo- and hyperpigmentation of the skin (HP:0009123). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79397)
- Hypermelanotic macule (HP:0001034): A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79397)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79397)
- Spotty hypopigmentation (HP:0005590). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79397)
- Plantar hyperkeratosis (HP:0007556): Hyperkeratosis affecting the sole of the foot. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79397)
- 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:79397)
- 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: Frequent (HP:0040282). (ORPHA:79397)
- Palmar hyperkeratosis (HP:0010765): Abnormal thickening of the skin localized to the palm of the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79397)
- Hyperkeratotic papule (HP:0045059): 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 that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79397)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79397)
- Cutaneous photosensitivity (HP:0000992): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79397)
- 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:79397)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79397)
- Oral mucosal blisters (HP:0200097): Blisters arising in the mouth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79397)
These phenotypes are associated with the disease Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397).