Phenotypes associated with the disease Bathing suit ichthyosis (ORPHA:100976):
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:100976)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:100976)
- Epidermal acanthosis (HP:0025092): Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:100976)
- Scaling skin (HP:0040189): Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:100976)
- Ectropion (HP:0000656): An outward turning (eversion) or rotation of the eyelid margin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100976)
- Erythroderma (HP:0001019): An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100976)
- Parakeratosis (HP:0001036): Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100976)
- Autoamputation of digits (HP:0007460): The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100976)
- Congenital nonbullous ichthyosiform erythroderma (HP:0007479): The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100976)
- Impaired temperature sensation (HP:0010829): A reduced ability to discriminate between different temperatures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100976)
- Eclabion (HP:0012472): A turning outward of the lip or lips, that is, eversion of the lips. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100976)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100976)
- Palmoplantar hyperkeratosis (HP:0000972): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100976)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100976)
- Multiple joint contractures (HP:0002828). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100976)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100976)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100976)
Not associated with this disease:
- Palmoplantar scaling skin (HP:0025524): Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot. Evidence: TAS. (ORPHA:100976)