Phenotypes associated with the disease palmoplantar keratoderma, nonepidermolytic, focal 1 (OMIM:613000):
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. (PMID:8595410)
- Perioral hyperkeratosis (HP:0033707): Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth. Evidence: PCS. (PMID:8595410)
- Keratosis pilaris (HP:0032152): An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. Evidence: TAS. (OMIM:613000)
- Congenital bullous ichthyosiform erythroderma (HP:0007475): An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet. Evidence: PCS. Frequency: 0/13. (PMID:8595410)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: PCS. Frequency: 13/13. (PMID:8595410)
- Follicular hyperkeratosis (HP:0007502): 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: 13/13. (PMID:8595410)
- 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:8595410)