Desmosomal genodermatoses

British Journal of Dermatology

Volumn 166, Issue 1, 2012, Pages 36-45

  Petrof, G ^a   Mellerio, J E ^a   McGrath, J A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CORNEODESMOSIN; DESMOCOLLIN; DESMOCOLLIN 2; DESMOCOLLIN 3; DESMOGLEIN; DESMOGLEIN 1; DESMOGLEIN 2; DESMOGLEIN 4; DESMOPLAKIN; GLYCOPROTEIN; PLAKOGLOBIN; PLAKOPHILIN; PLAKOPHILIN 1; PLAKOPHILIN 2; UNCLASSIFIED DRUG;

ACRAL PEELING SKIN SYNDROME; ALOPECIA; AUTOSOMAL RECESSIVE DISORDER; CARDIOMYOPATHY; CARVAJAL SYNDROME; CLINICAL FEATURE; CONGENITAL SKIN DISEASE; DESMOSOMAL GENODERMATOSES; DESMOSOME; ECTODERMAL DYSPLASIA SKIN FRAGILITY SYNDROME; EPIDERMOLYSIS BULLOSA; GENE MUTATION; HAIR; HEREDITARY HYPOTRICHOSIS SIMPLEX; HYPOTRICHOSIS; LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA; LETHAL CONGENITAL EPIDERMOLYSIS BULLOSA; MISSENSE MUTATION; MONILETHRIX; NETHERTON DISEASE; PALMOPLANTAR KERATODERMA; PATIENT COUNSELING; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SKIN; SKIN ABRASION; SKIN FRAGILITY; SKIN FRAGILITY WOOLLY HAIR SYNDROME; TRANSMISSION ELECTRON MICROSCOPY;

DESMOCOLLINS; DESMOGLEINS; DESMOPLAKINS; DESMOSOMES; EPIDERMOLYSIS BULLOSA; GAMMA CATENIN; GLYCOPROTEINS; HUMANS; MUTATION; PHENOTYPE; PLAKOPHILINS; SKIN DISEASES;

EID: 84555218069     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2011.10640.x     Document Type: Review

References (97)

1. Holthofer B, Windoffer R, Troyanovsky S, et al. Structure and function of desmosomes. Int Rev Cytol 2007; 264: 65-163. (Pubitemid 47625262)
2. Getsios S, Huen AC, Green KJ,. Working out the strength and flexibility of desmosomes. Nat Rev Mol Cell Biol 2004; 5: 271-81. (Pubitemid 38480608)
3. Garrod D, Chidgey M,. Desmosome structure, composition and function. Biochim Biophys Acta 2008; 1778: 572-87. (Pubitemid 351317796)
4. Chidgey M, Brakebusch C, Gustafsson E, et al. Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation. J Cell Biol 2001; 155: 821-32. (Pubitemid 34286234)
5. Ishii K, Norvell SM, Bannon LJ, et al. Assembly of desmosomal cadherins is isoform dependent. J Invest Dermatol 2001; 117: 26-35. (Pubitemid 32652436)
6. Getsios S, Simpson CL, Kojima S, et al. Desmoglein 1-dependent suppression of EGFR signaling promotes epidermal differentiation and morphogenesis. J Cell Biol 2009; 185: 1243-58.
7. Brennan D, Hu Y, Joubeh S, et al. Suprabasal Dsg2 expression in transgenic mouse skin confers a hyperproliferative and apoptosis-resistant phenotype to keratinocytes. J Cell Sci 2007; 120: 758-71. (Pubitemid 46523478)
8. Al-Amoudi A, Frangakis AS,. Structural studies on desmosomes. Biochem Soc Trans 2008; 36: 181-7. (Pubitemid 351570588)
9. Al-Amoudi A, Castano-Diez D, Devos DP, et al. The three-dimensional molecular structure of the desmosomal plaque. Proc Natl Acad Sci USA 2011; 108: 6480-5.
10. Thomason HA, Scothern A, McHarg S, et al. Desmosomes: adhesive strength and signalling in health and disease. Biochem J 2010; 429: 419-33.
11. Delva E, Tucker DK, Kowalczyk AP,. The desmosome. Cold Spring Harb Perspect Biol 2009; 1: a002543.
12. Simpson CL, Patel DM, Green KJ,. Deconstructing the skin: cytoarchitectural determinants of epidermal morphogenesis. Nat Rev Mol Cell Biol 2011; 12: 565-80.
13. Fressart V, Duthoit G, Donal E, et al. Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. Europace 2010; 12: 861-8.
14. Bolling MC, Jonkman MF,. Skin and heart: une liaison dangereuse. Exp Dermatol 2009; 18: 658-68.
15. Ghosh N, Haddad H,. Recent progress in the genetics of cardiomyopathy and its role in the clinical evaluation of patients with cardiomyopathy. Curr Opin Cardiol 2011; 26: 155-64.
16. Heid HW, Schmidt A, Zimbelmann R, et al. Cell type-specific desmosomal plaque proteins of the plakoglobin family: plakophilin 1 (band 6 protein). Differentiation 1994; 58: 113-31.
17. Hatzfeld M,. Plakophilins: multifunctional proteins or just regulators of desmosomal adhesion? Biochim Biophys Acta 2007; 1773: 69-77. (Pubitemid 44908713)
18. McGrath JA, McMillan JR, Shemanko CS, et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 1997; 17: 240-4.
19. Ersoy-Evans S, Erkin G, Fassihi H, et al. Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. J Am Acad Dermatol 2006; 55: 157-61. (Pubitemid 43867018)
20. McGrath JA, Mellerio JE,. Ectodermal dysplasia-skin fragility syndrome. Dermatol Clin 2010; 28: 125-9.
21. Mueller H, Franke WW,. Biochemical and immunological characterization of desmoplakins I and II, the major polypeptides of the desmosomal plaque. J Mol Biol 1983; 163: 647-71. (Pubitemid 13114552)
22. Green KJ, Parry DA, Steinert PM, et al. Structure of the human desmoplakins. Implications for function in the desmosomal plaque. J Biol Chem 1990; 265: 11406-7.
23. Green KJ, Stappenbeck TS, Parry DA, et al. Structure of desmoplakin and its association with intermediate filaments. J Dermatol 1992; 19: 765-9. (Pubitemid 23119643)
24. Uzumcu A, Norgett EE, Dindar A, et al. Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet 2006; 43: e5.
25. Armstrong DK, McKenna KE, Purkis PE, et al. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 1999; 8: 143-8. (Pubitemid 29039060)
26. Whittock NV, Ashton GH, Dopping-Hepenstal PJ, et al. Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol 1999; 113: 940-6. (Pubitemid 30013335)
27. Norgett EE, Hatsell SJ, Carvajal-Huerta L, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000; 9: 2761-6.
28. Carvajal-Huerta L,. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 1998; 39: 418-21. (Pubitemid 28417376)
29. Whittock NV, Wan H, Morley SM, et al. Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol 2002; 118: 232-8. (Pubitemid 34158475)
30. Jonkman MF, Pasmooij AM, Pasmans SG, et al. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet 2005; 77: 653-60. (Pubitemid 41361612)
31. McGrath JA, Bolling MC, Jonkman MF,. Lethal acantholytic epidermolysis bullosa. Dermatol Clin 2009; 28: 131-5.
32. Hobbs RP, Han SY, van der Zwaag PA, et al. Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa. J Invest Dermatol 2010; 130: 2680-3.
33. Mahoney MG, Sadowski S, Brennan D, et al. Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. J Invest Dermatol 2009; 130: 968-78.
34. Oxford EM, Musa H, Maass K, et al. Connexin43 remodelling caused by inhibition of plakophilin-2 expression in cardiac cells. Circ Res 2007; 101: 703-11. (Pubitemid 47494101)
35. Peifer M, McCrea PD, Green KJ, et al. The vertebrate adhesive junction proteins beta-catenin and plakoglobin and the Drosophila segment polarity gene armadillo form a multigene family with similar properties. J Cell Biol 1992; 118: 681-91.
36. Huber AH, Nelson WJ, Weis WI,. Three-dimensional structure of the armadillo repeat region of beta-catenin. Cell 1997; 90: 871-82.
37. Garrod DR, Fisher C, Smith A, et al. Pervanadate stabilizes desmosomes. Cell Adh Migr 2008; 2: 161-6.
38. Kowalczyk AP, Bornslaeger EA, Borgwardt JE, et al. The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes. J Cell Biol 1997; 139: 773-84. (Pubitemid 27485841)
39. Smith EA, Fuchs E,. Defining the interactions between intermediate filaments and desmosomes. J Cell Biol 1998; 141: 1229-41. (Pubitemid 28265616)
40. Bornslaeger EA, Godsel LM, Corcoran CM, et al. Plakophilin 1 interferes with plakoglobin binding to desmoplakin, yet together with plakoglobin promotes clustering of desmosomal plaque complexes at cell-cell borders. J Cell Sci 2001; 114: 727-38. (Pubitemid 32237145)
41. McKoy G, Protonotarios N, Crosby A, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000; 355: 2119-24. (Pubitemid 30364661)
42. Narin N, Akcakus M, Gunes T, et al. Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy. Pacing Clin Electrophysiol 2003; 26: 2326-9. (Pubitemid 38037551)
43. Protonotarios N, Tsatsopoulou A, Anastasakis A, et al. Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. J Am Coll Cardiol 2001; 38: 1477-84. (Pubitemid 33033029)
44. Antoniades L, Tsatsopoulou A, Anastasakis A, et al. Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis. Eur Heart J 2006; 27: 2208-16. (Pubitemid 44412836)
45. Cabral RM, Liu L, Hogan C, et al. Homozygous mutations in the 5′ region of the JUP gene result in cutaneous disease but normal heart development in children. J Invest Dermatol 2010; 130: 1543-50.
46. Pigors M, Kiritsi D, Krumpelmann S, et al. Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum Mol Genet 2011; 20: 1811-19.
47. Erken H, Yariz KO, Duman D, et al. Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation. Br J Dermatol 2011; 165: 917-21.
48. Asimaki A, Syrris P, Wichter T, et al. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2007; 81: 964-73. (Pubitemid 47580249)
49. North AJ, Chidgey MA, Clarke JP, et al. Distinct desmocollin isoforms occur in the same desmosomes and show reciprocally graded distributions in bovine nasal epidermis. Proc Natl Acad Sci USA 1996; 93: 7701-5. (Pubitemid 26277100)
50. Rickman L, Simrak D, Stevens HP, et al. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 1999; 8: 971-6. (Pubitemid 29250884)
51. Dua-Awereh MB, Shimomura Y, Kraemer L, et al. Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma. J Dermatol Sci 2009; 53: 192-7.
52. Hershkovitz D, Lugassy J, Indelman M, et al. Novel mutations in DSG1 causing striate palmoplantar keratoderma. Clin Exp Dermatol 2009; 34: 224-8.
53. Hunt DM, Rickman L, Whittock NV, et al. Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. Eur J Hum Genet 2001; 9: 197-203. (Pubitemid 32237053)
54. Kljuic A, Gilead L, Martinez-Mir A, et al. A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma. Exp Dermatol 2003; 12: 523-7. (Pubitemid 36992431)
55. Keren H, Bergman R, Mizrachi M, et al. Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. Arch Dermatol 2005; 141: 625-8. (Pubitemid 40656068)
56. Milingou M, Wood P, Masouye I, et al. Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. Dermatology 2006; 212: 117-22. (Pubitemid 43260726)
57. Zamiri M, Smith FJ, Campbell LE, et al. Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma. Br J Dermatol 2009; 161: 692-4.
58. Wan H, Dopping-Hepenstal PJ, Gratian MJ, et al. Desmosomes exhibit site-specific features in human palm skin. Exp Dermatol 2003; 12: 378-88. (Pubitemid 36992411)
59. Bazzi H, Getz A, Mahoney MG, et al. Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. Differentiation 2006; 74: 129-40. (Pubitemid 43376172)
60. Kljuic A, Bazzi H, Sundberg JP, et al. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell 2003; 113: 249-60. (Pubitemid 36514975)
61. Moss C, Martinez-Mir A, Lam H, et al. A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. J Invest Dermatol 2004; 123: 607-10. (Pubitemid 39095636)
62. Rafiq MA, Ansar M, Mahmood S, et al. A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. J Invest Dermatol 2004; 123: 247-8. (Pubitemid 38833491)
63. John P, Tariq M, Arshad Rafiq M, et al. Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins. Arch Dermatol Res 2006; 298: 135-7. (Pubitemid 44341647)
64. Boggon TJ, Murray J, Chappuis-Flament S, et al. C-cadherin ectodomain structure and implications for cell adhesion mechanisms. Science 2002; 296: 1308-13. (Pubitemid 34522784)
65. Wajid M, Bazzi H, Rockey J, et al. Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. J Invest Dermatol 2007; 127: 1779-82. (Pubitemid 46933413)
66. Winter H, Rogers MA, Langbein L, et al. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet 1997; 16: 372-4. (Pubitemid 27323303)
67. van Steensel MA, Steijlen PM, Bladergroen RS, et al. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. J Med Genet 2005; 42: e19.
68. Zlotogorski A, Marek D, Horev L, et al. An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. J Invest Dermatol 2006; 126: 1292-6. (Pubitemid 43997910)
69. Schaffer JV, Bazzi H, Vitebsky A, et al. Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. J Invest Dermatol 2006; 126: 1286-91. (Pubitemid 43997909)
70. Shimomura Y, Sakamoto F, Kariya N, et al. Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. J Invest Dermatol 2006; 126: 1281-5. (Pubitemid 43997908)
71. Farooq M, Ito M, Naito M, Shimomura Y,. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. Br J Dermatol 2011; 165: 425-31.
72. Troyanovsky SM, Troyanovsky RB, Eshkind LG, et al. Identification of the plakoglobin-binding domain in desmoglein and its role in plaque assembly and intermediate filament anchorage. J Cell Biol 1994; 127: 151-60. (Pubitemid 24307664)
73. Collins JE, Legan PK, Kenny TP, et al. Cloning and sequence analysis of desmosomal glycoproteins 2 and 3 (desmocollins): cadherin-like desmosomal adhesion molecules with heterogeneous cytoplasmic domains. J Cell Biol 1991; 113: 381-91. (Pubitemid 21909701)
74. Garrod DR, Merritt AJ, Nie Z,. Desmosomal cadherins. Curr Opin Cell Biol 2002; 14: 537-45. (Pubitemid 35247735)
75. Kljuic A, Bauer RC, Christiano AM,. Genomic organization of mouse desmocollin genes reveals evolutionary conservation. DNA Seq 2004; 15: 148-52. (Pubitemid 38661160)
76. Cheng X, Mihindukulasuriya K, Den Z, et al. Assessment of splice variant-specific functions of desmocollin 1 in the skin. Mol Cell Biol 2004; 24: 154-63. (Pubitemid 38010043)
77. Nuber UA, Schafer S, Schmidt A, et al. The widespread human desmocollin Dsc2 and tissue-specific patterns of synthesis of various desmocollin subtypes. Eur J Cell Biol 1995; 66: 69-74.
78. Simpson MA, Mansour S, Ahnood D, et al. Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology 2009; 113: 28-34.
79. Syrris P, Ward D, Evans A, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet 2006; 79: 978-84. (Pubitemid 44763413)
80. Heuser A, Plovie ER, Ellinor PT, et al. Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2006; 79: 1081-8. (Pubitemid 44853479)
81. Spindler V, Heupel WM, Efthymiadis A, et al. Desmocollin 3-mediated binding is crucial for keratinocyte cohesion and is impaired in pemphigus. J Biol Chem 2009; 284: 30556-64.
82. Bonne S, Gilbert B, Hatzfeld M, et al. Defining desmosomal plakophilin-3 interactions. J Cell Biol 2003; 161: 403-16. (Pubitemid 36529857)
83. Den Z, Cheng X, Merched-Sauvage M, et al. Desmocollin 3 is required for pre-implantation development of the mouse embryo. J Cell Sci 2006; 119: 482-9.
84. Chen J, Den Z, Koch PJ,. Loss of desmocollin 3 in mice leads to epidermal blistering. J Cell Sci 2008; 121: 2844-9.
85. Ayub M, Basit S, Jelani M, et al. A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. Am J Hum Genet 2009; 85: 515-20.
86. Payne AS,. No evidence of skin blisters with human desmocollin-3 gene mutation. Am J Hum Genet 2010; 86: 292.
87. Jonca N, Guerrin M, Hadjiolova K, et al. Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties. J Biol Chem 2002; 277: 5024-9. (Pubitemid 34968542)
88. Simon M, Jonca N, Guerrin M, et al. Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation. J Biol Chem 2001; 276: 20292-9.
89. Levy-Nissenbaum E, Betz RC, Frydman M, et al. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet 2003; 34: 151-3. (Pubitemid 36666924)
90. Davalos NO, Garcia-Vargas A, Pforr J, et al. A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp. Br J Dermatol 2005; 153: 1216-19. (Pubitemid 41779581)
91. Caubet C, Jonca N, Lopez F, et al. Homo-oligomerization of human corneodesmosin is mediated by its N-terminal glycine loop domain. J Invest Dermatol 2004; 122: 747-54. (Pubitemid 38471345)
92. Kazantseva A, Goltsov A, Zinchenko R, et al. Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. Science 2006; 314: 982-5. (Pubitemid 44749941)
93. Pasternack SM, von Kugelgen I, Aboud KA, et al. G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet 2008; 40: 329-34. (Pubitemid 351311768)
94. Oji V, Eckl KM, Aufenvenne K, et al. Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet 2010; 87: 274-81.
95. Israeli S, Zamir H, Sarig O, et al. Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. J Invest Dermatol 2011; 131: 779-81.
96. Matsumoto M, Zhou Y, Matsuo S, et al. Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology. Proc Natl Acad Sci USA 2008; 105: 6720-4. (Pubitemid 351754573)
97. Fine JD, Eady RA, Bauer EA, et al. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 2008; 58: 931-50.