Junctional epidermolysis bullosa inversa
ORPHA:79405DiseaseAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)25
Очень частый (80–99%)3
HP:0000670Carious teeth
HP:0008066Abnormal blistering of the skin
HP:0011355Localized skin lesion
Частый (30–79%)4
HP:0001030Fragile skin
HP:0001075Atrophic scars
HP:0006297Enamel hypoplasia
HP:0008404Nail dystrophy
Периодический (5–29%)5
HP:0001056Milia
HP:0001798Anonychia
HP:0004386Gastrointestinal inflammation
HP:0020117Hypoplastic dermoepidermal hemidesmosomes
HP:0200097Oral mucosal blisters
Исключён (0%)13
HP:0012252Abnormal respiratory system morphology
HP:0031464Genital blistering
HP:0000079Abnormality of the urinary system
HP:0000478Abnormality of the eye
HP:0000982Palmoplantar keratoderma
HP:0001510Growth delay
HP:0001903Anemia
HP:0001965Abnormality of the scalp
HP:0002671Basal cell carcinoma
HP:0002860Squamous cell carcinoma
HP:0004057Mitten deformity
HP:0010562Keloids
HP:0012056Cutaneous melanoma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)