Familial reactive perforating collagenosis
ORPHA:79147DiseaseChildhood
Фенотипы (HPO)20
Очень частый (80–99%)2
HP:0030350Erythematous papule
HP:0040186Maculopapular exanthema
Частый (30–79%)6
HP:0005585Spotty hyperpigmentation
HP:0011123Inflammatory abnormality of the skin
HP:0011124Abnormality of epidermal morphology
HP:0025164Increased number of elastic fibers in the dermis
HP:0031512Abnormal cutaneous collagen fibril morphology
HP:0045059Hyperkeratotic papule
Периодический (5–29%)6
HP:0000377Abnormal pinna morphology
HP:0000606Abnormality of the periorbital region
HP:0000989Pruritus
HP:0001965Abnormality of the scalp
HP:0007473Crusting erythematous dermatitis
HP:0012322Perifolliculitis
Очень редкий (1–4%)1
HP:0011830Abnormal oral mucosa morphology
Исключён (0%)5
HP:0001231Abnormal fingernail morphology
HP:0012622Chronic kidney disease
HP:0000164Abnormality of the dentition
HP:0000819Diabetes mellitus
HP:0001005Dermatological manifestations of systemic disorders
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 50 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)