Phenotypes associated with the disease peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome (OMIM:616295, an entry in Online Mendelian Inheritance in Man):
- Fragile skin (HP:0001030, a Human Phenotype Ontology term): Skin that splits easily with minimal injury. Evidence: PCS. Frequency: 2/4. (PMID:25683118)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 4/4. (PMID:25683118)
- Epidermal acanthosis (HP:0025092, a Human Phenotype Ontology term): Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). Evidence: PCS. Frequency: 1/1. (PMID:25683118)
- Knuckle pad (HP:0032541, a Human Phenotype Ontology term): Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern. Evidence: PCS. Frequency: 1/4. (PMID:25683118)
- Angular cheilitis (HP:0030318, a Human Phenotype Ontology term): A type of inflammation of the lips involving one or both of the corners of the mouth. Evidence: PCS. Frequency: 3/4. (PMID:25683118)
- Acantholysis (HP:0100792, a Human Phenotype Ontology term): The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. Evidence: PCS. Frequency: 1/1. (PMID:25683118)
- Dry skin (HP:0000958, a Human Phenotype Ontology term): Skin characterized by the lack of natural or normal moisture. Evidence: PCS. Frequency: 1/4. (PMID:25683118)
- Abnormal blistering of the skin (HP:0008066, a Human Phenotype Ontology term): 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: PCS. Frequency: 4/4. (PMID:25683118)
- Cheilitis (HP:0100825, a Human Phenotype Ontology term): Inflammation of the lip. Evidence: PCS. Frequency: 2/4. (PMID:25683118)
- Scaling skin (HP:0040189, a Human Phenotype Ontology term): Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. Evidence: PCS. Frequency: 4/4. (PMID:25683118)
- Onycholysis (HP:0001806, a Human Phenotype Ontology term): Detachment of the nail from the nail bed. Evidence: PCS. Frequency: 1/4. (PMID:25683118)
- Punctate palmoplantar hyperkeratosis (HP:0007530, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/4. (PMID:25683118)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:25683118)
- Telangiectases of the cheeks (HP:0007421, a Human Phenotype Ontology term): Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks. Evidence: PCS. Frequency: 1/4. (PMID:25683118)
- Pruritus (HP:0000989, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/4. (PMID:25683118)
- Follicular hyperkeratosis (HP:0007502, a Human Phenotype Ontology term): A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. Evidence: PCS. Frequency: 1/1. (PMID:25683118)
- Oral leukoplakia (HP:0002745, a Human Phenotype Ontology term): A thickened white patch on the oral mucosa that cannot be rubbed off. Evidence: PCS. Frequency: 2/4. (PMID:25683118)
- Hyperkeratosis (HP:0000962, a Human Phenotype Ontology term): 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:25683118)
- Leukonychia (HP:0001820, a Human Phenotype Ontology term): White discoloration of the nails. Evidence: PCS. Frequency: 4/4. (PMID:25683118)