Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Epidermolysis bullosa

Epidermolysis bullosa is an autosomal dominant or recessive dermatological disorder caused by mutations of the ITGB4 gene.

Systematic

Hereditary dermatological disorders
Epidermolysis bullosa
ITGB4
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Nephropathy with pretibial epidermolysis bullosa and deafness
Piebaldism

References:

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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Update: Sept. 26, 2018