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) |