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
Epidermolysis bullosa
ITGB4
Familiäre Acne inversa 1
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
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: 29. April 2019