Mutations of proteins that hold the cells of the skin together can cause disease. Autoantibodies against proteins that hold the cells of the skin together can also cause disease.

List + Conditions caused by mutations in or antibodies against junctional proteins found within the epidermis of the human integumentary system Junctional protein Condition(s) Desmocollin 1 Subcorneal pustular dermatosis type of IgA pemphigus Desmocollin 2 Arrhythmogenic right ventricular dysplasia (ARVD) Desmoglein 1 Striate palmoplantar keratodermaPemphigus foliaceousBullous impetigoStaphylococcal scalded skin syndromeFogo selvagemPemphigus erythematosusMucocutaneous pemphigus vulgaris Desmoglein 2 ARVD Desmoglein 3 Mucosal pemphigus vulgarisPemphigus vegetans Mucocutaneous pemphigus vulgaris Desmoglein 4 Localized autosomal recessive hypotrichosisAutosomal recessive monilethrix Desmoplakin Striate palmoplantar keratodermaCarvajal syndromeSkin fragility–wooly hair syndromeLethal acantholytic epidermolysis bullosaARVDParaneoplastic pemphigusStevens–Johnson syndrome Plakoglobin Naxos diseaseStriate palmoplantar keratodermaARVD Plakophilin 1 Ectodermal dysplasia–skin fragility syndrome Plakophilin 2 ARVD Corneodesmosin Hypertrichosis simplex of the scalp

See also List of keratins expressed in the human integumentary system List of target antigens in pemphigus List of immunofluorescence findings for autoimmune bullous conditions List of cutaneous conditions List of genes mutated in cutaneous conditions List of histologic stains that aid in diagnosis of cutaneous conditions Keratoderma

References