Phenotypes associated with the disease ichthyosis, annular epidermolytic 1 (OMIM:607602):
- Erythematous plaque (HP:0025474): A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. Evidence: PCS. Frequency: 1/2. (PMID:9036939)
- Abnormal hair morphology (HP:0001595): An abnormality of the hair. Evidence: PCS. Frequency: 0/2. (PMID:9036939)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/2. (PMID:9036939)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: PCS. Frequency: 0/2. (PMID:9036939)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: PCS. Frequency: 2/2. (PMID:9036939)
- Orthokeratosis (HP:0040162): Formation of an anuclear keratin layer. Evidence: PCS. Frequency: 1/1. (PMID:9036939)
- Ichthyosis (HP:0008064): An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. Evidence: PCS. Frequency: 2/2. (PMID:9036939)
- Abnormal blistering of the skin (HP:0008066): 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: 2/2. (PMID:9036939)
- Scaling skin (HP:0040189): Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. Evidence: PCS. Frequency: 1/2. (PMID:9036939)
- Flexural lichenification (HP:0007453): Lichenification affecting primarily flexural areas of the skin. Evidence: PCS. Frequency: 1/2. (PMID:9036939)
- 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. (PMID:9036939)
- Palmoplantar hyperkeratosis (HP:0000972): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: PCS. Frequency: 0/2. (PMID:9036939)
- 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:9036939)
- Skin erosion (HP:0200041): A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. Evidence: PCS. Frequency: 2/2. (PMID:9036939)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/2. (PMID:9036939)
- Hyperparakeratosis (HP:0040009): Histological term to illustrate the combined presence of parakeratosis and hyperkeratosis. Abnormal keratinization of the epidermal stratum corneum (horny layer) with increased keratin formation and preservation of the nuclei in the superficial cells. Evidence: PCS. Frequency: 1/1. (PMID:9036939)