Phenotypes associated with the disease acrokeratosis verruciformis (OMIM:101900):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:12542527)
- Ridged nail (HP:0001807): Longitudinal, linear prominences in the nail plate. Evidence: PCS. (PMID:12542527)
- Acrokeratosis (HP:0200016): Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet. Evidence: PCS. (PMID:12542527)
- Epidermal acanthosis (HP:0025092): Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). Evidence: PCS. Frequency: 1/1. (PMID:12542527)
- Punctate palmoplantar hyperkeratosis (HP:0007530). Evidence: PCS. (PMID:12542527)
- Verrucous papule (HP:0012500): A wartlike (with multiple small elevated projections) papule. Evidence: PCS. (PMID:12542527)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:12542527)
- Acantholysis (HP:0100792): The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. Evidence: PCS. Frequency: 0/2. (PMID:12542527)
- 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: PCS. Frequency: 1/1. (PMID:12542527)