- Atypical scarring of skin (HP:0000987): Atypically scarred skin . Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:231568)
- 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:231568)
- Fragile skin (HP:0001030): Skin that splits easily with minimal injury. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:231568)
- 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: Frequent (HP:0040282). (ORPHA:231568)
- Dystrophic toenail (HP:0001810): Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:231568)
- 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:231568)
- 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:231568)
- 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:231568)
- Absent toenail (HP:0001802): Congenital absence of the toenail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:231568)
- Absent fingernail (HP:0001817): Absence of a fingernail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:231568)
- Recurrent loss of toenails and fingernails (HP:0008390): Repeated loss, or shedding, of the nails of the fingers and toes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:231568)
- Dystrophic fingernails (HP:0008391): The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:231568)
- Erosion of oral mucosa (HP:0031446): Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:231568)
- Skin erosion (HP:0200041): 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). (ORPHA:231568)
- Oral mucosal blisters (HP:0200097): Blisters arising in the mouth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:231568)
These phenotypes are associated with the disease Autosomal dominant generalized dystrophic epidermolysis bullosa (ORPHA:231568).