Paveldima epidermolizė bulozė
Visos paveldimos odos trapumo su pūslėmis formos, įskaitant paprastąją, junkcinę ir distrofinę epidermolizę bulozę bei Kindlerio sindromą.
Ką keičia diagnozė
Recesyvinėms distrofinėms formoms reikalinga reguliari odos vėžio priežiūra, o distrofinei EB dabar prieinama genais pagrįsta žaizdų terapija.
Tiriami genai
Taip pat žinoma kaip
epidermolysis bullosa hereditaria; hereditary epidermolysis bullosa
Taip pat apimamos konkrečios formos
Apima 58 susijusius poporūšius ↓Slėpti poporūšius ↑
- acral dystrophic epidermolysis bullosa
- centripetalis recessive dystrophic epidermolysis bullosa
- dystrophic epidermolysis bullosa pruriginosa
- dystrophic epidermolysis bullosa, nails only
- epidermolysis bullosa dystrophica
- epidermolysis bullosa dystrophica Neurotrophica
- epidermolysis bullosa dystrophica with subcorneal cleavage
- epidermolysis bullosa simplex
- epidermolysis bullosa simplex 1A, generalized severe
- epidermolysis bullosa simplex 1B, generalized intermediate
- epidermolysis bullosa simplex 1C, localized
- epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
- epidermolysis bullosa simplex 2A, generalized severe
- epidermolysis bullosa simplex 2B, generalized intermediate
- epidermolysis bullosa simplex 2C, localized
- epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
- epidermolysis bullosa simplex 2E, with migratory circinate erythema
- epidermolysis bullosa simplex 2F, with mottled pigmentation
- epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
- epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
- epidermolysis bullosa simplex 5A, Ogna type
- epidermolysis bullosa simplex 5B, with muscular dystrophy
- epidermolysis bullosa simplex 5C, with pyloric atresia
- epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
- epidermolysis bullosa simplex 7, with nephropathy and deafness
- epidermolysis bullosa simplex due to plakophilin deficiency
- epidermolysis bullosa simplex superficialis
- epidermolysis bullosa simplex with anodontia/hypodontia
- epidermolysis bullosa simplex with nail dystrophy
- epidermolysis bullosa, junctional 2A, intermediate
- epidermolysis bullosa, junctional 2B, severe
- epidermolysis bullosa, junctional 3A, intermediate
- epidermolysis bullosa, junctional 3B, severe
- epidermolysis bullosa, junctional 4, intermediate
- epidermolysis bullosa, junctional 5A, intermediate
- epidermolysis bullosa, junctional 6, with pyloric atresia
- epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
- generalized dominant dystrophic epidermolysis bullosa
- generalized junctional epidermolysis bullosa non-Herlitz type
- hereditary acrokeratotic poikiloderma, Weary type
- junctional epidermolysis bullosa
- junctional epidermolysis bullosa Herlitz type
- junctional epidermolysis bullosa inversa
- junctional epidermolysis bullosa with pyloric atresia
- junctional epidermolysis bullosa, non-Herlitz type
- Kindler syndrome
- laryngo-onycho-cutaneous syndrome
- late-onset junctional epidermolysis bullosa
- late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
- lethal acantholytic epidermolysis bullosa
- localized dystrophic epidermolysis bullosa
- localized junctional epidermolysis bullosa, non-Herlitz type
- pretibial dystrophic epidermolysis bullosa
- recessive dystrophic epidermolysis bullosa
- recessive dystrophic epidermolysis bullosa inversa
- recessive dystrophic epidermolysis bullosa-generalized other
- suprabasal epidermolysis bullosa simplex
- transient bullous dermolysis of the newborn
