Phenotypes associated with the disease epidermolysis bullosa simplex 1C, localized (OMIM:131800, an entry in Online Mendelian Inheritance in Man):
- Milia (HP:0001056, a Human Phenotype Ontology term): Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. Evidence: PCS. Frequency: 0/33. (PMID:9284105)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 33/33. (PMID:9284105)
- Palmoplantar blistering (HP:0007446, a Human Phenotype Ontology term): A type of blistering that affects the skin of the palms of the hands and the soles of the feet. Evidence: PCS. Frequency: 59/59. (PMID:7506606;PMID:17039244;PMID:9284105;PMID:27283507)
- Autosomal dominant inheritance (HP:0000006, 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 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:7506606)
- Stratum basale cleavage (HP:0034193, a Human Phenotype Ontology term): Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis. Evidence: PCS. Frequency: 1/1. (PMID:17039244)
- 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: 0/33. (PMID:9284105)