Phenotypes associated with the disease Dowling-Degos disease (ORPHA:79145):
- Progressive reticulate hyperpigmentation (HP:0007456). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79145)
- Abnormality of the neck (HP:0000464): An abnormality of the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79145)
- Hyperkeratosis (HP:0000962): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79145)
- Inguinal freckling (HP:0030052): The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79145)
- 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: Occasional (HP:0040283). (ORPHA:79145)
- Hypermelanotic macule (HP:0001034): A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79145)
- Abnormality of the hand (HP:0001155): An abnormality affecting one or both hands. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79145)
- Abnormal fingernail morphology (HP:0001231): An abnormality of the fingernails. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79145)
- Heat intolerance (HP:0002046): The inability to maintain a comfortable body temperature in warm or hot weather. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79145)
- Scrotal hyperpigmentation (HP:0012855): Increased pigmentation (skin color) of the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79145)
- Hyperpigmented papule (HP:0025473): A papule (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 exhibits increased pigmentation (is darker) compared to the surrounding skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79145)
- Erythematous papule (HP:0030350): A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79145)
- Digital pitting scar (HP:0031293): Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79145)
- Penile freckling (HP:0031447): Multiple pigmented macules located on the skin of the penis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79145)
- Acne inversa (HP:0040154): A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79145)
- 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: Occasional (HP:0040283). (ORPHA:79145)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79145)
- Mixed hypo- and hyperpigmentation of the skin (HP:0009123). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79145)
- Palmar pits (HP:0010610). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79145)
- Generalized abnormality of skin (HP:0011354): An abnormality of the skin that is not localized to any one particular region. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79145)
- Hypopigmented macule (HP:0020073): A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79145)
- Anal margin squamous cell carcinoma (HP:0030442): A squamous cell carcinoma that originates in the skin of the anal margin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79145)
- Keratoacanthoma (HP:0031525): Keratoacanthoma (KA) is a common benign epithelial tumor that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79145)
- 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: Very rare (HP:0040284). (ORPHA:79145)
- Epidermoid cyst (HP:0200040): Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. A central, dark comedone opening (punctum) may be present. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79145)