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Table 2.

Desmosomal components targeted in human diseases

Affected tissues and their associated diseases Desmosomal molecules targeted Clinical manifestation References
Heart defects    
   Arrhythmogenic right ventricular cardiomyopathy (ARVC)   Pkp2, DP, Dsg2, Pg, Dsc2   Replacement of right ventricular myocardium with fibrofatty tissue, resulting in thinning of the right ventricular wall and sudden cardiac death   (Gerull et al., 2004; Pilichou et al., 2006; Rampazzo et al., 2002; McKoy et al., 2000; Syrris et al., 2006)  
   Dilated cardiomyopathy (DC)   Dsg2, DP   Ventricular dilation impairs myocardial function, resulting in heart failure   (Posch et al., 2008; Norgett et al., 2000)  
Skin defects    
   Woolly hair with and without cardiomyopathy   DP, Dsc2   Syndrome of the scalp hair characterized by frizzy and wiry hair, giving it wool-like appearance   (Norgett et al., 2000: Simpson et al., 2009)  
   Striate palmoplantar keratoderma (SPPK)   DP, Dsg1, Dsc2   Epidermal thickening of the palms and soles   (Simpson et al., 2009; Rickman et al., 1999; Armstrong et al., 1999)  
   Skin fragility ectodermal dysplasia syndrome   Pkp1   Thickening of the skin on palms and soles, abnormal nails, and fragile skin that blisters and peels   (McGrath et al., 1997)  
   Naxos diseases   Pg   Combination of ARVC, palmoplantar keratosis and woolly hair   (McKoy et al., 2000)  
   Hypotrichosis   Dsg4   Sparse, fragile hair with abnormal hair follicles, impaired hair keratinization and epidermal hyperproliferation   (Kljuic et al., 2003)  
   Hypotrichosis with skin vesicles   Dsc3   Sparse, fragile hair with normal follicles   (Ayub et al., 2009)  
   Hypotrichosis simplex   Corneodesmosin   Progressive thinning of scalp hair in first decade; loss of cell-cell adhesion in inner root sheath of hair follicles   (Levy-Nissenbaum et al., 2003)  
   Pemphigus (foliaceus and vulgaris) (PF and PV)   Dsg1, Dsg3   Autoantibody-mediated disruption of intercellular adhesion (acantholysis) and blistering in the epidermis (PF) and/or oral mucosa (PV)   (Koulu et al., 1984; Amagai et al., 1991)  
   Bullous impetigo   Dsg1   Bacterial exfoliative toxin results in the appearance of localized blisters, usually on the trunk, arms or legs   (Amagai et al., 2000)  
   Staphylococcal scalded-skin syndrome (SSSS)   Dsg1   More generalized form of bullous impetigo in which exfoliative toxin leads to widespread superficial skin blistering and exfoliation   (Amagai et al., 2000)  
Affected tissues and their associated diseases Desmosomal molecules targeted Clinical manifestation References
Heart defects    
   Arrhythmogenic right ventricular cardiomyopathy (ARVC)   Pkp2, DP, Dsg2, Pg, Dsc2   Replacement of right ventricular myocardium with fibrofatty tissue, resulting in thinning of the right ventricular wall and sudden cardiac death   (Gerull et al., 2004; Pilichou et al., 2006; Rampazzo et al., 2002; McKoy et al., 2000; Syrris et al., 2006)  
   Dilated cardiomyopathy (DC)   Dsg2, DP   Ventricular dilation impairs myocardial function, resulting in heart failure   (Posch et al., 2008; Norgett et al., 2000)  
Skin defects    
   Woolly hair with and without cardiomyopathy   DP, Dsc2   Syndrome of the scalp hair characterized by frizzy and wiry hair, giving it wool-like appearance   (Norgett et al., 2000: Simpson et al., 2009)  
   Striate palmoplantar keratoderma (SPPK)   DP, Dsg1, Dsc2   Epidermal thickening of the palms and soles   (Simpson et al., 2009; Rickman et al., 1999; Armstrong et al., 1999)  
   Skin fragility ectodermal dysplasia syndrome   Pkp1   Thickening of the skin on palms and soles, abnormal nails, and fragile skin that blisters and peels   (McGrath et al., 1997)  
   Naxos diseases   Pg   Combination of ARVC, palmoplantar keratosis and woolly hair   (McKoy et al., 2000)  
   Hypotrichosis   Dsg4   Sparse, fragile hair with abnormal hair follicles, impaired hair keratinization and epidermal hyperproliferation   (Kljuic et al., 2003)  
   Hypotrichosis with skin vesicles   Dsc3   Sparse, fragile hair with normal follicles   (Ayub et al., 2009)  
   Hypotrichosis simplex   Corneodesmosin   Progressive thinning of scalp hair in first decade; loss of cell-cell adhesion in inner root sheath of hair follicles   (Levy-Nissenbaum et al., 2003)  
   Pemphigus (foliaceus and vulgaris) (PF and PV)   Dsg1, Dsg3   Autoantibody-mediated disruption of intercellular adhesion (acantholysis) and blistering in the epidermis (PF) and/or oral mucosa (PV)   (Koulu et al., 1984; Amagai et al., 1991)  
   Bullous impetigo   Dsg1   Bacterial exfoliative toxin results in the appearance of localized blisters, usually on the trunk, arms or legs   (Amagai et al., 2000)  
   Staphylococcal scalded-skin syndrome (SSSS)   Dsg1   More generalized form of bullous impetigo in which exfoliative toxin leads to widespread superficial skin blistering and exfoliation   (Amagai et al., 2000)  
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