- Punctate palmoplantar hyperkeratosis (HP:0007530). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79151)
- 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:79151)
- Verrucae (HP:0200043): Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79151)
- Anonychia (HP:0001798): Aplasia of the nail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79151)
- 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:79151)
- 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: Very frequent (HP:0040281). (ORPHA:79151)
- Epidermal acanthosis (HP:0025092): Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79151)
- Hypergranulosis (HP:0025114): Hypergranulosis is an increased thickness of the stratum granulosum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79151)
- Skin-colored papule (HP:0025512): A papule with the same color as the surrounding skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79151)
- Leukonychia (HP:0001820): White discoloration of the nails. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79151)
These phenotypes are associated with the disease Acrokeratosis verruciformis of Hopf (ORPHA:79151).
The following phenotypes are NOT associated with this disease:
- 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. (ORPHA:79151)
- Acantholysis (HP:0100792): The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. Evidence: TAS. (ORPHA:79151)