Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Epidermolysis bullosa

Epidermolysis bullosa iste ine autosomal dominante und rezessive Hauterkrankung, die durch Mutationen des ITGB4-Gens ausgelöst wird.

Gliederung

Erbliche Hauterkrankungen
Autoinflammation mit Arthritis und Dyskeratose
Chronische atypische neutrophile Dermatose mit Lipodystrophie und erhöhter Temperatur
Dyschromatosis symmetrica hereditaria
Ektodermale Dysplasie mit Immundefekt
Epidermolysis bullosa
ITGB4
Familiäre Acne inversa 1
Griscelli-Syndrom Typ 2
Hermansky-Pudlak-Syndrome 2
Incontinentia pigmenti
Interleukin 36-Rezeptor-Antagonist-Mangel
Interstitielle Lungenerkrankung mit nephrotischem Syndrom und Epidemiolysis bullosa
Keratosis linearis - Ichthyosis congenita - sklerosierendes Keratoderm
Neigung zu Vitiligo-assoziierter multipler Autoimmunerkrankung 1
Neonatale enzündliche Haut- und Darmerkrankung Typ 1
Nephropathie mit prätibialer epidermolysis bullosa und Schwerhörigkeit
Periodisches Fieber mit Beginn im Kindesalter-Pannikulitis-Dermatose-Syndrom
Piebaldismus
Pityriasis rubra pilaris
Psoriasis 02
Psoriasis 14
Psoriasis 15
Pyoderma gangraenosum, Acne und Hidradenitis suppurativa (PASH)
Pyogene Arthritis - Pyoderma gangraenosum - Akne - Syndrom

Referenzen:

1.

Carmi R et al. (1982) Aplasia cutis congenita in two sibs discordant for pyloric atresia.

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2.

Vidal F et al. (1995) Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.

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3.

Maman E et al. (1998) Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease.

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4.

Pulkkinen L et al. (1998) Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.

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5.

Chavanas S et al. (1999) Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.

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6.

Birnbaum RY et al. (2008) Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients.

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7.

Leschot NJ et al. (1975) Letter: Elevated amniotic-fluid alpha-fetoprotein without neural-tube defects.

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8.

Achiron R et al. (1992) Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: the diagnostic role of prenatal ultrasonography.

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9.

Lestringant GG et al. (1992) The pyloric atresia-junctional epidermolysis bullosa syndrome. Report of a case and review of the literature.

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10.

Lacour JP et al. (1992) Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antro-pyloric atresia: a new variant of junctional epidermolysis bullosa?

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11.

Nazzaro V et al. (1990) Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia.

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12.

Ishigami T et al. (1990) A case of pyloric atresia associated with junctional epidermolysis bullosa.

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13.

None (1986) Aplasia cutis congenita: a clinical review and proposal for classification.

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14.

Rosenbloom MS et al. (1987) Congenital pyloric atresia and epidermolysis bullosa letalis in premature siblings.

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15.

Vivona G et al. (1987) Aplasia cutis congenita and/or epidermolysis bullosa.

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16.

Berger TG et al. (1986) Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease.

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17.

Egan N et al. (1985) Junctional epidermolysis bullosa and pyloric atresia in two siblings.

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18.

Leschot NJ et al. (1980) Severe congenital skin defects in a newborn. Case report and relevance of several obstetrical parameters.

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19.

None (1983) Congenital skin defects and gastrointestinal atresia.

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20.

Bull MJ et al. (1983) Epidermolysis bullosa--pyloric atresia. An autosomal recessive syndrome.

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21.

Toriello HV et al. (1983) Autosomal-recessive aplasia cutis congenita--report of two affected sibs.

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22.

Adashi EY et al. (1980) An unusual case of epidermolysis bullosa hereditaria letalis with cutaneous scarring and pyloric atresia.

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23.

Ruzzi L et al. (1997) A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia.

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24.

Uitto J et al. (1997) Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity.

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25.

Pulkkinen L et al. () Hemidesmosomal variants of epidermolysis bullosa. Mutations in the alpha6beta4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes.

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26.

Fine JD et al. (2000) Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa.

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27.

Varki R et al. (2006) Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

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28.

Fine JD et al. (2008) The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.

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29.

Orphanet article

Orphanet ID 231568 [^]
30.

OMIM.ORG article

Omim 131800 [^]
31.

Wikipedia Artikel

Wikipedia DE (Epidermolysis_bullosa) [^]
Update: 9. Mai 2019