- Erythematous papule (HP:0030350): A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79147)
- Maculopapular exanthema (HP:0040186): A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79147)
- Spotty hyperpigmentation (HP:0005585). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79147)
- Inflammatory abnormality of the skin (HP:0011123): The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79147)
- Abnormal epidermal morphology (HP:0011124): An abnormality of the morphology of the epidermis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79147)
- Increased number of elastic fibers in the dermis (HP:0025164): An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79147)
- Abnormal cutaneous collagen fibril morphology (HP:0031512). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79147)
- 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: Frequent (HP:0040282). (ORPHA:79147)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79147)
- Abnormality of the periorbital region (HP:0000606): An abnormality of the region situated around the orbit of the eye. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79147)
- 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:79147)
- Abnormal scalp morphology (HP:0001965): Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79147)
- Crusting erythematous dermatitis (HP:0007473). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79147)
- Perifolliculitis (HP:0012322): Inflammation surrounding hair follicles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79147)
- Abnormal oral mucosa morphology (HP:0011830): Abnormality of the oral mucosa. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79147)
These phenotypes are associated with the disease Familial reactive perforating collagenosis (ORPHA:79147).
The following phenotypes are NOT associated with this disease:
- Abnormal fingernail morphology (HP:0001231): An abnormality of the fingernails. Evidence: TAS. (ORPHA:79147)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. (ORPHA:79147)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. (ORPHA:79147)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. (ORPHA:79147)
- Dermatological manifestations of systemic disorders (HP:0001005). Evidence: TAS. (ORPHA:79147)