Junctional basement membrane anomalies of skin and mucosa in lipoid proteinosis ( hyalinosis cutis et mucosae )

Summary Background Excessive basement membrane (BM) deposition in skin and mucosa is characteristic for lipoid proteinosis (LP; hyalinosis cutis et mucosae ), an inherited disease caused by extracellular matrix protein 1 (ECM1) mutations. According to ultrastructure there are striking differences be...

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Veröffentlicht in:	Journal of dermatological science 2007-03, Vol.45 (3), p.175-185
Hauptverfasser:	Mirancea, Nicolae, Hausser, Ingrid, Metze, Dieter, Stark, Hans-Jürgen, Boukamp, Petra, Breitkreutz, Dirk
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Basement membrane Basement Membrane - pathology Basement Membrane - ultrastructure Biomarkers Biopsy Capillaries - pathology Capillaries - ultrastructure Child Child, Preschool Dermatology Dermo-epidermal junction Epidermis - pathology Epidermis - ultrastructure Extracellular Matrix - pathology Extracellular Matrix - ultrastructure Female Humans Immunoelectron microscopy Lipoid proteinosis Lipoid Proteinosis of Urbach and Wiethe - pathology Male Microscopy, Electron, Transmission Microscopy, Immunoelectron Mouth Mucosa - pathology Mouth Mucosa - ultrastructure Skin and oral mucosa
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