A Case of Pretibial Dystrophic Epidermolysis Bullosa: Decreased Expression of the Non‐helical Domain of Type VII Collagen Molecule

Horiguchi, Yuji; Leigh, Irene M.; Oguchi, Motoi; Tanaka, Toshihiro; Imamura, Sadao

doi:10.1111/j.1346-8138.1993.tb03835.x

Cited by 3 publications

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References 14 publications

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“…PEB is a rare form of localized EBD, first described by Kuske in 1946, 11 which has attracted much more interest in recent years. 12–20 It may escape diagnosis or can be overlooked due to late age of onset and intrafamilial variability. 19 Most PEB cases show autosomal dominant inheritance.…”

Section: Discussionmentioning

confidence: 99%

“…8 The clinical heterogeneity of EBD has been shown to result from a range of mutations in the type VII collagen gene (COL7A1). 9 , 10 Pretibial epidermolysis bullosa (PEB), first described by Kuske in 1946, 11 is a rare form of localized EBD, 12–20 characterized by recurrent blistering and hypertrophic scarring occurring predominantly in the pretibial area, with nail dystrophy. Intrafamilial variability and late age onset often create doubtful and delayed diagnosis based on the clinical–pathological criteria and inheritance pattern.…”

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Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing

et al. 1999

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Pretibial epidermolysis bullosa (PEB) is a rare form of localized epidermolysis bullosa dystrophica (EBD), a heterogeneous group of inherited, blistering diseases characterized by scarring, loss of dermal-epidermal adhesion and altered anchoring fibrils (AF). Mutations in the type VII collagen gene (COL7A1) underlie EBD and in a dominant PEB family a glycine substitution mutation has been identified. We report a 33-year-old man affected by PEB showing abnormal AF and reduced immunostaining for type VII collagen. Mutation search in the COL7A1 gene revealed a 14 bp deletion in the 115 exon-intron boundary (33563del14), which resulted in the in-frame skipping of exon 115 with elimination of 29 amino acids from the pro-alpha1(VII) polypeptide chain. As a consequence, procollagen VII failed to be processed to mature collagen VII and accumulated at the dermal-epidermal junction, as revealed by immunofluorescence staining using a NC-2 domain-specific antibody. The proband's father was a clinically unaffected heterozygous carrier of mutation 33563del14, whereas the maternal pathogenetic mutation has still not been identified. This represents the first report of a recessive deletion mutation in PEB and extends the range of EBD phenotypes associated with mutation 33563del14.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%