Sec 8 Disorders of Epidermal and DermalEpidermal Adhesion and Vesicular and Bullous Disorders Flashcards
Desmoglein 1
Pemphigus foliaceus, pemphigus vulgaris Striate PPK (AD)
Desmoglein 2
Arrhythmogenic right ventricular cardiomyopathy (AD)
Desmoglein 3
Pemphigus vulgaris, paraneoplastic pemphigus
Desmoglein 4
Pemphigus foliaceus, pemphigus vulgaris
Hypotrichosis (AR); Monilethrix (AR)
Desmocollin 1
IgA pemphigus (subcorneal pustular dermatosis)
Desmocollin 2
Arrhythmogenic right ventricular cardiomyopathy (AR and AD)
Desmocollin 3
Pemphigus vulgaris
Hypotrichosis (AR)
Desmoplakin I/II
Paraneoplastic pemphigus Striate PPK (AD); Carvajal syndrome (AR): diffuse PPK, wooly hair, left ventricular cardiomyopathy; lethal acantholytic epidermolysis bullosa (AR); skin fragilitywooly hair syndrome (AR): PPK, wooly hair, nail dystrophy
Plakoglobin
Naxos disease: diffuse PPK, wooly hair, Arrhythmogenic right ventricular cardiomyopathy (AR)
Plakophilin 1
Skin fragility and ectodermal dysplasia (AR)
Plakophilin 2
Arrhythmogenic right ventricular cardiomyopathy (AD)
Corneodesmosin
Hypotrichosis simplex of the scalp (AD)
Ubiquitous components of Basement Membrane
Collagen IV
Laminins
Nidogens
Perlecan
Cytoskeletal proteins - Keratin 5 and 14
Epidermolysis Bullosa Simplex
Hemidesmosomal plaque protein - BPA1/BP230
Bullous Pemphigoid
Epidermolysis Bullosa Simplex