Localized scleroderma
ORPHA:90289DiseaseNot applicableAll ages
Фенотипы (HPO)55
Очень частый (80–99%)1
HP:0001072Thickened skin
Частый (30–79%)4
HP:0002829Arthralgia
HP:0011355Localized skin lesion
HP:0030053Stiff skin
HP:0031359Cutaneous sclerotic plaque
Периодический (5–29%)28
HP:0000164Abnormality of the dentition
HP:0000177Abnormality of upper lip
HP:0000324Facial asymmetry
HP:0000504Abnormality of vision
HP:0000554Uveitis
HP:0000689Dental malocclusion
HP:0000953Hyperpigmentation of the skin
HP:0001053Hypopigmented skin patches
HP:0001369Arthritis
HP:0001371Flexion contracture
HP:0002020Gastroesophageal reflux
HP:0002076Migraine
HP:0002232Patchy alopecia
HP:0002315Headache
HP:0002960Autoimmunity
HP:0003198Myopathy
HP:0004426Abnormality of the cheek
HP:0006336Short dental roots
HP:0009019Progressive loss of facial adipose tissue
HP:0010783Erythema
HP:0011331Hemifacial atrophy
HP:0011821Abnormality of facial skeleton
HP:0025474Erythematous plaque
HP:0033127Abnormality of the musculoskeletal system
HP:0100537Fasciitis
HP:0100560Upper limb asymmetry
HP:0100876Infra-orbital crease
HP:0100899Sclerosis of finger phalanx
Очень редкий (1–4%)22
HP:0000077Abnormality of the kidney
HP:0000366Abnormality of the nose
HP:0000490Deeply set eye
HP:0000520Proptosis
HP:0000707Abnormality of the nervous system
HP:0000872Hashimoto thyroiditis
HP:0001045Vitiligo
HP:0001250Seizure
HP:0001297Stroke
HP:0001626Abnormality of the cardiovascular system
HP:0002086Abnormality of the respiratory system
HP:0002384Focal impaired awareness seizure
HP:0002633Vasculitis
HP:0003202Skeletal muscle atrophy
HP:0003330Abnormal bone structure
HP:0008066Abnormal blistering of the skin
HP:0011138Abnormality of skin adnexa morphology
HP:0011675Arrhythmia
HP:0030878Abnormality on pulmonary function testing
HP:0030880Raynaud phenomenon
HP:0100633Esophagitis
HP:0200041Skin erosion
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)