Phenotypes associated with the disease Hydroa vacciniforme (ORPHA:330058):
- Cutaneous photosensitivity (HP:0000992): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:330058)
- Hydroa vacciniforme (HP:0032381): In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:330058)
- Scarring (HP:0100699): A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:330058)
- Malar rash (HP:0025300): An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:330058)
- Papulovesicular eruption (HP:0033700): An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:330058)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330058)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330058)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330058)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330058)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330058)
- Epiphora (HP:0009926): Abnormally increased lacrimation, that is, excessive tearing (watering eye). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330058)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330058)
- Red eye (HP:0025337): A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330058)
- Superficial dermal perivascular inflammatory infiltrate (HP:0031190): Numerous lymphocytes surrounding blood vessels in the superficial part of the dermis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330058)
- Linear C3 deposits along the epidermal basement membrane zone (HP:0031541): Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330058)
- Malaise (HP:0033834): A feeling of general discomfort, weakness, or lack of health. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330058)
- Telangiectasia of the skin (HP:0100585): Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330058)
Not associated with this disease:
- Porphyrinuria (HP:0010473): Abnormally increased excretion of porphyrins in the urine. Evidence: TAS. (ORPHA:330058)