- Pruritus (HP:0000989): 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:218)
- Hypermelanotic macule (HP:0001034): A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:218)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:218)
- Subungual hyperkeratotic fragments (HP:0008410). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:218)
- Hyperkeratotic papule (HP:0045059): A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:218)
- Acrokeratosis (HP:0200016): Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:218)
- Blepharitis (HP:0000498): Inflammation of the eyelids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:218)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:218)
- Abnormal skin pigmentation (HP:0001000): An abnormality of the pigmentation of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:218)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:218)
- Keratoconjunctivitis sicca (HP:0001097): Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:218)
- Abnormal hair morphology (HP:0001595): An abnormality of the hair. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:218)
- Fragile nails (HP:0001808): Nails that easily break. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:218)
- Anal mucosal leukoplakia (HP:0005212): Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:218)
- Palmar pits (HP:0010610). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:218)
- Plantar pits (HP:0010612): The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:218)
- Cobblestone-like hyperkeratosis (HP:0031288): The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:218)
- Longitudinal erythronychia (HP:6001074): A longitudinal red band extending from the proximal nail fold or lunula to the distal nail plate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:218)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:218)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:218)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:218)
- Bipolar affective disorder (HP:0007302): Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:218)
- Punctate keratitis (HP:0011859): A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:218)
- Macule (HP:0012733): A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:218)
- Skin vesicle (HP:0200037): A circumscribed, fluid-containing, epidermal elevation less than 10mm in diameter at the widest point that (i) Contain serous exudates or serum mixed with blood or pus; (ii) Are discrete, grouped, irregularly distributed, or linear as in Rhus dermatitis; (iii) Are short-lived. Vesicles may break spontaneously or evolve into bullae by enlarging or coalescing with other vesicles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:218)
These phenotypes are associated with the disease Darier disease (ORPHA:218).