大疱性表皮松解症的口腔表现和处理-2007.pdfVIP

Oral manifestations vary markedly Oral manifestations vary markedly depending on the specific EB type, the depending on the specific EB type, the molecular defect, site of tissue molecular defect, site of tissue separation and other factors. separation and other factors. • Simplex – Keratin genes – KRT5, KRT14 • Junctional – Laminin genes – LAMA3, LAMB3, LAMC2 • Dystrophic – Type VII Collagen – COL7A1 (over 600 mutations) Oral Soft Tissue Oral Soft Tissue Manifestations of Manifestations of EB EB • Highly variable depending on EB type – Increased fragility – Perioral lesions – Microstomia – Ulceration of mucosa, lips, checks, tongue, palate – Ankyloglosia – Obliteration of oral vestibule EB Associated Soft Tissue Manifestations EB Associated Soft Tissue Manifestations • Can markedly affect ability to care for teeth. • Can make providing oral health care extremely challenging. CONT 0 EBS 39 JEB 81 DDEB 72 RDEB 95 0 20 40 60 80 100 percent oral lesions Oral Cavity Width in Different EB Types Oral Cavity Width in Different EB Types Control 45 General 43 Simplex Simplex Local 46 Non-Herlitz 47 Junctional Junctional Herlitz 39 Dominant