Hereditary acrokeratotic poikiloderma
ORPHA:2907DiseaseInfancy, Neonatal
Фенотипы (HPO)47
Очень частый (80–99%)16
HP:0000230Gingivitis
HP:0000963Thin skin
HP:0000964Eczematoid dermatitis
HP:0001025Urticaria
HP:0001053Hypopigmented skin patches
HP:0001810Dystrophic toenail
HP:0006323Premature loss of primary teeth
HP:0007400Irregular hyperpigmentation
HP:0008064Ichthyosis
HP:0008066Abnormal blistering of the skin
HP:0008391Dystrophic fingernails
HP:0008404Nail dystrophy
HP:0010783Erythema
HP:0100585Telangiectasia of the skin
HP:0200034Papule
HP:0200039Pustule
Частый (30–79%)12
HP:0000160Narrow mouth
HP:0000164Abnormality of the dentition
HP:0000217Xerostomia
HP:0000225Gingival bleeding
HP:0000262Turricephaly
HP:0000929Abnormal skull morphology
HP:0000972Palmoplantar hyperkeratosis
HP:0002745Oral leukoplakia
HP:0010296Ankyloglossia
HP:0100587Abnormality of the preputium
HP:0100669Abnormal pigmentation of the oral mucosa
HP:0200042Skin ulcer
Периодический (5–29%)19
HP:0001382Joint hypermobility
HP:0000091Abnormal renal tubule morphology
HP:0000211Trismus
HP:0000365Hearing impairment
HP:0000656Ectropion
HP:0000772Abnormal rib morphology
HP:0000795Abnormality of the urethra
HP:0000924Abnormality of the skeletal system
HP:0001096Keratoconjunctivitis
HP:0002860Squamous cell carcinoma
HP:0003272Abnormality of the hip bone
HP:0004322Short stature
HP:0005916Abnormal metacarpal morphology
HP:0006101Finger syndactyly
HP:0006740Transitional cell carcinoma of the bladder
HP:0007759Opacification of the corneal stroma
HP:0010807Open bite
HP:0011024Abnormality of the gastrointestinal tract
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 41 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)