Abstract
Desmosomes serve as intercellular junctions in various tissues including the skin and the heart where they play a crucial role in cell-cell adhesion, signalling and differentiation. The desmosomes connect the cell surface to the keratin cytoskeleton and are composed of a transmembranal part consisting mainly of desmosomal cadherins, armadillo proteins and desmoplakin, which form the intracytoplasmic desmosomal plaque. Desmosomal genodermatoses are caused by mutations in genes encoding the various desmosomal components. They are characterized by skin, hair and cardiac manifestations occurring in diverse combinations. Their classification into a separate and distinct clinical group not only recognizes their common pathogenesis and facilitates their diagnosis but might also in the future form the basis for the design of novel and targeted therapies for these occasionally life-threatening diseases.
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References
Alcalai R, Metzger S, Rosenheck S, Meiner V, Chajek-Shaul T (2003) A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Cardiol 42:319–327
Alexandrescu DT, Dasanu CA, Farzanmehr H, Kauffman CL (2008) Development of squamous cell carcinomas in Darier disease: a new model for skin carcinogenesis? Br J Dermatol 159:1378–1380
Al-Owain M, Wakil S, Shareef F, Al-Fatani A, Hamadah E, Haider M, Al-Hindi H, Awaji A, Khalifa O, Baz B, Ramadhan R, Meyer B (2011) Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes. Clin Genet 80:50–58
Antoniades L, Tsatsopoulou A, Anastasakis A, Syrris P, Asimaki A, Panagiotakos D, Zambartas C, Stefanadis C, McKenna WJ, Protonotarios N (2006) 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 27:2208–2216
Armstrong DK, McKenna KE, Purkis PE, Green KJ, Eady RA, Leigh IM, Hughes AE (1999) Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 8:143–148
Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, McKenna WJ (2007) A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 81:964–973
Asimaki A, Syrris P, Ward D, Guereta LG, Saffitz JE, McKenna WJ (2009) Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations. J Cutan Pathol 36:553–559
Ayub M, Basit S, Jelani M, Ur Rehman F, Iqbal M, Yasinzai M, Ahmad W (2009) A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. Am J Hum Genet 85:515–520
Barber AG, Wajid M, Columbo M, Lubetkin J, Christiano AM (2007) Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene. J Dermatol Sci 45:161–166
Bazzi H, Kljuic A, Christiano AM, Christiano AM, Panteleyev AA (2004) Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat. Differentiation 72:450–464
Bazzi H, Martinez-Mir A, Kljuic A, Christiano AM (2005) Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. J Invest Dermatol Symp Proc 10:222–224
Bazzi H, Getz A, Mahoney MG, Ishida-Yamamoto A, Langbein L, Wahl JK 3rd, Christiano AM (2006) Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. Differentiation 74:129–140
Behne MJ, Tu CL, Aronchik I, Epstein E, Bench G, Bikle DD, Pozzan T, Mauro TM (2003) Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ stores. J Invest Dermatol 121:688–694
Bergman R, Sprecher E (2005) Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome. Am J Dermatopathol 27:333–338
Bergman R, Hershkovitz D, Fuchs D, Indelman M, Gadot Y, Sprecher E (2010) Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations. J Am Acad Dermatol 62:107–113
Berridge MJ, Bootman MD, Roderick HL (2003) Calcium signalling: dynamics, homeostasis and remodelling. Nat Rev Mol Cell Biol 4:517–529
Bierkamp C, McLaughlin KJ, Schwarz H, Huber O, Kemler R (1996) Embryonic heart and skin defects in mice lacking plakoglobin. Dev Biol 180:780–785
Boggon TJ, Murray J, Chappuis-Flament S, Wong E, Gumbiner BM, Shapiro L (2002) C-cadherin ectodomain structure and implications for cell adhesion mechanisms. Science 296:1308–1313
Bolling MC, Mekkes JR, Goldschmidt WF, Noesel CJ van, Jonkman MF, Pas HH (2007) Acquired palmoplantar keratoderma and immunobullous disease associated with antibodies to desmocollin 3. Br J Dermatol 157:168–173
Bonnart C, Deraison C, Lacroix M, Uchida Y, Besson C, Robin A, Briot A, Gonthier M, Lamant L, Dubus P, Monsarrat B, Hovnanian A (2010) Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing. J Clin Invest 120:871–882
Bonne S, Hengel J van, Nollet F, Kools P, Roy F van (1999) Plakophilin-3, a novel armadillo-like protein present in nuclei and desmosomes of epithelial cells. J Cell Sci 112:2265–2276
Brennan D, Hu Y, Joubeh S, Choi YW, Whitaker-Menezes D, O’Brien T, Uitto J, Rodeck U, Mahoney MG (2007) Suprabasal Dsg2 expression in transgenic mouse skin confers a hyperproliferative and apoptosis-resistant phenotype to keratinocytes. J Cell Sci 120:758–771
Briot A, Deraison C, Lacroix M, Bonnart C, Robin A, Besson C, Dubus P, Hovnanian A (2009) Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome. J Exp Med 206:1135–1147
Brooke MA, Nitoiu D, Kelsell DP (2012) Cell-cell connectivity: desmosomes and disease. J Pathol 226:158–171
Burge SM (1992) Hailey-Hailey disease: the clinical features, response to treatment and prognosis. Br J Dermatol 126:275–282
Burge SM, Garrod DR (1991) An immunohistological study of desmosomes in Darier’s disease and Hailey-Hailey disease. Br J Dermatol 124:242–251
Burge SM, Schomberg KH (1992) Adhesion molecules and related proteins in Darier’s disease and Hailey-Hailey disease. Br J Dermatol 127:335–343
Burge SM, Millard PR, Wojnarowska F (1991) Hailey-Hailey disease: a widespread abnormality of cell adhesion. Br J Dermatol 124:329–332
Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJ, Winik BC, Asial RA, Dobson R, Mein CA, Baselaga PA, Mellerio JE, Nanda A, Boente Mdel C, Kelsell DP, McGrath JA, South AP (2010) Homozygous mutations in the 5′ region of the JUP gene result in cutaneous disease but normal heart development in children. J Invest Dermatol 130:1543–1550
Carvajal-Huerta L (1998) Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 39:418–421
Caubet C, Jonca N, Lopez F, Esteve JP, Simon M, Serre G (2004) Homo-oligomerization of human corneodesmosin is mediated by its N-terminal glycine loop domain. J Invest Dermatol 122:747–754
Caubet C, Bousset L, Clemmensen O, Sourigues Y, Bygum A, Chavanas S, Coudane F, Hsu CY, Betz RC, Melki R, Simon M, Serre G (2010) A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin. FASEB J 24:3416–3426
Celli A, Mackenzie DS, Crumrine DS, Tu CL, Hupe M, Bikle DD, Elias PM, Mauro TM (2011) Endoplasmic reticulum Ca2+ depletion activates XBP1 and controls terminal differentiation in keratinocytes and epidermis. Br J Dermatol 164:16–25
Celli A, Mackenzie DS, Zhai Y, Tu CL, Bikle DD, Holleran WM, Uchida Y, Mauro TM (2012) SERCA2-controlled Ca2+−dependent keratinocyte adhesion and differentiation is mediated via the sphingolipid pathway: a therapeutic target for Darier’s disease. J Invest Dermatol 132:1188–1195
Chalabreysse L, Senni F, Bruyere P, Aime B, Ollagnier C, Bozio A, Bouvagnet P (2011) A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations. J Dent Res 90:58–64
Charpentier E, Lavker RM, Acquista E, Cowin P (2000) Plakoglobin suppresses epithelial proliferation and hair growth in vivo. J Cell Biol 149:503–520
Charvet C, Alberti I, Luciano F, Jacquel A, Bernard A, Auberger P, Deckert M (2003) Proteolytic regulation of forkhead transcription factor FOXO3a by caspase-3-like proteases. Oncogene 22:4557–4568
Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, Bonafe JL, Wilkinson J, Taieb A, Barrandon Y, Harper JI, Prost Y de, Hovnanian A (2000) Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 25:141–142
Chen J, Den Z, Koch PJ (2008) Loss of desmocollin 3 in mice leads to epidermal blistering. J Cell Sci 121:2844–2849
Cheng X, Mihindukulasuriya K, Den Z, Kowalczyk AP, Calkins CC, Ishiko A, Shimizu A, Koch PJ (2004) Assessment of splice variant-specific functions of desmocollin 1 in the skin. Mol Cell Biol 24:154–163
Chidgey M, Brakebusch C, Gustafsson E, Cruchley A, Hail C, Kirk S, Merritt A, North A, Tselepis C, Hewitt J, Byrne C, Fassler R, Garrod D (2001) Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation. J Cell Biol 155:821–832
Chitaev NA, Troyanovsky SM (1997) Direct Ca2+−dependent heterophilic interaction between desmosomal cadherins, desmoglein and desmocollin, contributes to cell-cell adhesion. J Cell Biol 138:193–201
Coonar AS, Protonotarios N, Tsatsopoulou A, Needham EW, Houlston RS, Cliff S, Otter MI, Murday VA, Mattu RK, McKenna WJ (1998) Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. Circulation 97:2049–2058
Davalos NO, Garcia-Vargas A, Pforr J, Davalos IP, Picos-Cardenas VJ, Garcia-Cruz D, Kruse R, Figuera LE, Nothen MM, Betz RC (2005) A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp. Br J Dermatol 153:1216–1219
Delva E, Tucker DK, Kowalczyk AP (2009) The desmosome. Cold Spring Harb Perspect Biol 1:a002543
Den Z, Cheng X, Merched-Sauvage M, Koch PJ (2006) Desmocollin 3 is required for pre-implantation development of the mouse embryo. J Cell Sci 119:482–489
Descargues P, Deraison C, Bonnart C, Kreft M, Kishibe M, Ishida-Yamamoto A, Elias P, Barrandon Y, Zambruno G, Sonnenberg A, Hovnanian A (2005) Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity. Nat Genet 37:56–65
Descargues P, Deraison C, Prost C, Fraitag S, Mazereeuw-Hautier J, D’Alessio M, Ishida-Yamamoto A, Bodemer C, Zambruno G, Hovnanian A (2006) Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome. J Invest Dermatol 126:1622–1632
Dhitavat J, Cobbold C, Leslie N, Burge S, Hovnanian A (2003) Impaired trafficking of the desmoplakins in cultured Darier’s disease keratinocytes. J Invest Dermatol 121:1349–1355
Dua-Awereh MB, Shimomura Y, Kraemer L, Wajid M, Christiano AM (2009) Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma. J Dermatol Sci 53:192–197
Dusek RL, Getsios S, Chen F, Park JK, Amargo EV, Cryns VL, Green KJ (2006) The differentiation-dependent desmosomal cadherin desmoglein 1 is a novel caspase-3 target that regulates apoptosis in keratinocytes. J Biol Chem 281:3614–3624
Erken H, Yariz KO, Duman D, Kaya CT, Sayin T, Heper AO, Tekin M (2011) Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation. Br J Dermatol 165:917–921
Ersoy-Evans S, Erkin G, Fassihi H, Chan I, Paller AS, Surucu S, McGrath JA (2006) Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. J Am Acad Dermatol 55:157–161
Farooq M, Ito M, Naito M, Shimomura Y (2011) A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. Br J Dermatol 165:425–431
Foggia L, Hovnanian A (2004) Calcium pump disorders of the skin. Am J Med Genet C Semin Med Genet 131C:20–31
Foggia L, Aronchik I, Aberg K, Brown B, Hovnanian A, Mauro TM (2006) Activity of the hSPCA1 Golgi Ca2+ pump is essential for Ca2+−mediated Ca2+ response and cell viability in Darier disease. J Cell Sci 119:671–679
Fontao L, Favre B, Riou S, Geerts D, Jaunin F, Saurat JH, Green KJ, Sonnenberg A, Borradori L (2003) Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus. Mol Biol Cell 14:1978–1992
Fuchs E, Raghavan S (2002) Getting under the skin of epidermal morphogenesis. Nat Rev Genet 3:199–209
Furio L, Veer S de, Jaillet M, Briot A, Robin A, Deraison C, Hovnanian A (2014) Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks of Netherton syndrome. J Exp Med 211:499–513
Gallicano GI, Kouklis P, Bauer C, Yin M, Vasioukhin V, Degenstein L, Fuchs E (1998) Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol 143:2009–2022
Gallicano GI, Bauer C, Fuchs E (2001) Rescuing desmoplakin function in extra-embryonic ectoderm reveals the importance of this protein in embryonic heart, neuroepithelium, skin and vasculature. Development 128:929–941
Gallo E, Garcia-Martin P, Fraga J, Teye K, Koga H, Hashimoto T, Garcia-Diez A (2014) Paraneoplastic pemphigus with eosinophilic spongiosis and autoantibodies against desmocollins 2 and 3. Clin Exp Dermatol 39:323–326
Garcia-Gras E, Lombardi R, Giocondo MJ, Willerson JT, Schneider MD, Khoury DS, Marian AJ (2006) Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J Clin Invest 116:2012–2021
Garrod D, Chidgey M (2008) Desmosome structure, composition and function. Biochim Biophys Acta 1778:572–587
Garrod DR, Merritt AJ, Nie Z (2002) Desmosomal adhesion: structural basis, molecular mechanism and regulation (Review). Mol Membr Biol 19:81–94
Getsios S, Huen AC, Green KJ (2004) Working out the strength and flexibility of desmosomes. Nat Rev Mol Cell Biol 5:271–281
Getsios S, Simpson CL, Kojima S, Harmon R, Sheu LJ, Dusek RL, Cornwell M, Green KJ (2009) Desmoglein 1-dependent suppression of EGFR signaling promotes epidermal differentiation and morphogenesis. J Cell Biol 185:1243–1258
Green KJ, Gaudry CA (2000) Are desmosomes more than tethers for intermediate filaments? Nat Rev Mol Cell Biol 1:208–216
Green KJ, Simpson CL (2007) Desmosomes: new perspectives on a classic. J Invest Dermatol 127:2499–2515
Green KJ, Parry DA, Steinert PM, Virata ML, Wagner RM, Angst BD, Nilles LA (1990) Structure of the human desmoplakins. Implications for function in the desmosomal plaque. J Biol Chem 265:11406–11407
Green KJ, Stappenbeck TS, Parry DA, Virata ML (1992) Structure of desmoplakin and its association with intermediate filaments. J Dermatol 19:765–769
Grossmann KS, Grund C, Huelsken J, Behrend M, Erdmann B, Franke WW, Birchmeier W (2004) Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. J Cell Biol 167:149–160
Hakuno M, Shimizu H, Akiyama M, Amagai M, Wahl JK, Wheelock MJ, Nishikawa T (2000) Dissociation of intra- and extracellular domains of desmosomal cadherins and E-cadherin in Hailey-Hailey disease and Darier’s disease. Br J Dermatol 142:702–711
Hamada T, South AP, Mitsuhashi Y, Kinebuchi T, Bleck O, Ashton GH, Hozumi Y, Suzuki T, Hashimoto T, Eady RA, McGrath JA (2002) Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. Exp Dermatol 11:107–114
Harada M, Hashimoto K, Fujiwara K (1994) Immunohistochemical distribution of CD44 and desmoplakin I & II in Hailey-Hailey’s disease and Darier’s disease. J Dermatol 21:389–393
Hardman MJ, Liu K, Avilion AA, Merritt A, Brennan K, Garrod DR, Byrne C (2005) Desmosomal cadherin misexpression alters beta-catenin stability and epidermal differentiation. Mol Cell Biol 25:969–978
Harmon RM, Simpson CL, Johnson JL, Koetsier JL, Dubash AD, Najor NA, Sarig O, Sprecher E, Green KJ (2013) Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation. J Clin Invest 123:1556–1570
Has C, Jakob T, He Y, Kiritsi D, Hausser I, Bruckner-Tuderman L (2014) Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies. Br J Dermatol 134:808–815
Hatano Y, Hashimoto T, Fukuda S, Ishikawa K, Goto M, Kai Y, Takeo N, Okamoto O, Fujiwara S (2012) Atypical pemphigus with exclusively anti-desmocollin 3-specific IgG antibodies. Eur J Dermatol 22:560–562
Hatsell S, Cowin P (2001) Deconstructing desmoplakin. Nat Cell Biol 3:E270–E272
Hatzfeld M, Haffner C, Schulze K, Vinzens U (2000) The function of plakophilin 1 in desmosome assembly and actin filament organization. J Cell Biol 149:209–222
Hernandez-Martin A, Torrelo A, Ciria S, Colmenero I, Aguilar A, Grimalt R, Gonzalez-Sarmiento R (2013) Ectodermal dysplasia-skin fragility syndrome: a novel mutation in the PKP1 gene. Clin Exp Dermatol 38:787–790
Hershkovitz D, Lugassy J, Indelman M, Bergman R, Sprecher E (2009) Novel mutations in DSG1 causing striate palmoplantar keratoderma. Clin Exp Dermatol 34:224–228
Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaassen S, Thierfelder L, MacRae CA, Gerull B (2006) Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 79:1081–1088
Hobbs RP, Green KJ (2012) Desmoplakin regulates desmosome hyperadhesion. J Invest Dermatol 132:482–485
Hobbs RP, Han SY, Zwaag PA van der, Bolling MC, Jongbloed JD, Jonkman MF, Getsios S, Paller AS, Green KJ (2010) Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa. J Invest Dermatol 130:2680–2683
Hobbs RP, Amargo EV, Somasundaram A, Simpson CL, Prakriya M, Denning MF, Green KJ (2011) The calcium ATPase SERCA2 regulates desmoplakin dynamics and intercellular adhesive strength through modulation of PKC&α; signaling. FASEB J 25:990–1001
Holthofer B, Windoffer R, Troyanovsky S, Leube RE (2007) Structure and function of desmosomes. Int Rev Cytol 264:65–163
Houben E, De Paepe K, Rogiers V (2007) A keratinocyte’s course of life. Skin Pharmacol Physiol 20:122–132
Hovnanian A (2013) Netherton syndrome: skin inflammation and allergy by loss of protease inhibition. Cell Tissue Res 351:289–300
Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr (2000) Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet 24:61–65
Huang XS, Jiang HO, Quan QL (2012) Zhonghua yi xue yi chuan xue za zhi [Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene]. Chin J Med Genet 29:452–454
Hunt DM, Rickman L, Whittock NV, Eady RA, Simrak D, Dopping-Hepenstal PJ, Stevens HP, Armstrong DK, Hennies HC, Kuster W, Hughes AE, Arnemann J, Leigh IM, McGrath JA, Kelsell DP, Buxton RS (2001) Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. Eur J Hum Genet 9:197–203
Igarashi S, Takizawa T, Yasuda Y, Uchiwa H, Hayashi S, Brysk H, Robinson JM, Yamamoto K, Brysk MM, Horikoshi T (2004) Cathepsin D, but not cathepsin E, degrades desmosomes during epidermal desquamation. Br J Dermatol 151:355–361
Ishida-Yamamoto A, Igawa S, Kishibe M (2011) Order and disorder in corneocyte adhesion. J Dermatol 38:645–654
Ishida-Yamamoto A, Furio L, Igawa S, Honma M, Tron E, Malan V, Murakami M, Hovnanian A (2014) Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene. Exp Dermatol 23:60–63
Ishii K, Norvell SM, Bannon LJ, Amargo EV, Pascoe LT, Green KJ (2001) Assembly of desmosomal cadherins into desmosomes is isoform dependent. J Invest Dermatol 117:26–35
Israeli S, Zamir H, Sarig O, Bergman R, Sprecher E (2011) Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. J Invest Dermatol 131:779–781
Ito M, Hashimoto K, Katsuumi K, Sato Y (1990) Pathogenesis of monilethrix: computer stereography and electron microscopy. J Invest Dermatol 95:186–194
John P, Tariq M, Arshad Rafiq M, Amin-Ud-Din M, Muhammad D, Waheed I, Ansar M, Ahmad W (2006) Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins. Arch Dermatol Res 298:135–137
Jonca N, Guerrin M, Hadjiolova K, Caubet C, Gallinaro H, Simon M, Serre G (2002) Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties. J Biol Chem 277:5024–5029
Jonkman MF, Pasmooij AM, Pasmans SG, Berg MP van den, Ter Horst HJ, Timmer A, Pas HH (2005) Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet 77:653–660
Keller DI, Stepowski D, Balmer C, Simon F, Guenthard J, Bauer F, Itin P, David N, Drouin-Garraud V, Fressart V (2012) De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease. Swiss Med Wkly 142:w13670
Keren H, Bergman R, Mizrachi M, Kashi Y, Sprecher E (2005) Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. Arch Dermatol 141:625–628
Kirtschig G, Effendy I, Happle R (1992) Leukonychia longitudinalis as the primary symptom of Hailey-Hailey disease. Hautarzt 43:451–452
Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O’Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT, Christiano AM (2003a) Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell 113:249–260
Kljuic A, Gilead L, Martinez-Mir A, Frank J, Christiano AM, Zlotogorski A (2003b) A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma. Exp Dermatol 12:523–527
Koch PJ, Mahoney MG, Ishikawa H, Pulkkinen L, Uitto J, Shultz L, Murphy GF, Whitaker-Menezes D, Stanley JR (1997) Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris. J Cell Biol 137:1091–1102
Komatsu N, Suga Y, Saijoh K, Liu AC, Khan S, Mizuno Y, Ikeda S, Wu HK, Jayakumar A, Clayman GL, Shirasaki F, Takehara K, Diamandis EP (2006) Elevated human tissue kallikrein levels in the stratum corneum and serum of peeling skin syndrome-type B patients suggests an over-desquamation of corneocytes. J Invest Dermatol 126:2338–2342
Koster MI, Dai D, Marinari B, Sano Y, Costanzo A, Karin M, Roop DR (2007) p63 induces key target genes required for epidermal morphogenesis. Proc Natl Acad Sci U S A 104:3255–3260
Kowalczyk AP, Bornslaeger EA, Borgwardt JE, Palka HL, Dhaliwal AS, Corcoran CM, Denning MF, Green KJ (1997) The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes. J Cell Biol 139:773–784
Kowalczyk AP, Hatzfeld M, Bornslaeger EA, Kopp DS, Borgwardt JE, Corcoran CM, Settler A, Green KJ (1999) The head domain of plakophilin-1 binds to desmoplakin and enhances its recruitment to desmosomes. Implications for cutaneous disease. J Biol Chem 274:18145–18148
Lai YH, Cheng J, Cheng D, Feasel ME, Beste KD, Peng J, Nusrat A, Moreno CS (2011) SOX4 interacts with plakoglobin in a Wnt3a-dependent manner in prostate cancer cells. BMC Cell Biol 12:50
Leclerc EA, Huchenq A, Mattiuzzo NR, Metzger D, Chambon P, Ghyselinck NB, Serre G, Jonca N, Guerrin M (2009) Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction. J Cell Sci 122:2699–2709
Levy-Nissenbaum E, Betz RC, Frydman M, Simon M, Lahat H, Bakhan T, Goldman B, Bygum A, Pierick M, Hillmer AM, Jonca N, Toribio J, Kruse R, Dewald G, Cichon S, Kubisch C, Guerrin M, Serre G, Nothen MM, Pras E (2003) Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet 34:151–153
Li D, Zhang W, Liu Y, Haneline LS, Shou W (2012) Lack of plakoglobin in epidermis leads to keratoderma. J Biol Chem 287:10435–10443
Liu LH, Boivin GP, Prasad V, Periasamy M, Shull GE (2001) Squamous cell tumors in mice heterozygous for a null allele of Atp2a2, encoding the sarco(endo)plasmic reticulum Ca2+−ATPase isoform 2 Ca2+ pump. J Biol Chem 276:26737–26740
Lorimer JE, Hall LS, Clarke JP, Collins JE, Fleming TP, Garrod DR (1994) Cloning, sequence analysis and expression pattern of mouse desmocollin 2 (DSC2), a cadherin-like adhesion molecule. Mol Membr Biol 11:229–236
Lundstrom A, Serre G, Haftek M, Egelrud T (1994) Evidence for a role of corneodesmosin, a protein which may serve to modify desmosomes during cornification, in stratum corneum cell cohesion and desquamation. Arch Dermatol Res 286:369–375
Maeda O, Usami N, Kondo M, Takahashi M, Goto H, Shimokata K, Kusugami K, Sekido Y (2004) Plakoglobin (gamma-catenin) has TCF/LEF family-dependent transcriptional activity in beta-catenin-deficient cell line. Oncogene 23:964–972
Mallet A, Kypriotou M, George K, Leclerc E, Rivero D, Mazereeuw-Hautier J, Serre G, Huber M, Jonca N, Hohl D (2013) Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B. Br J Dermatol 169:1322–1325
Mao X, Nagler AR, Farber SA, Choi EJ, Jackson LH, Leiferman KM, Ishii N, Hashimoto T, Amagai M, Zone JJ, Payne AS (2010) Autoimmunity to desmocollin 3 in pemphigus vulgaris. Am J Pathol 177:2724–2730
Matsumoto M, Zhou Y, Matsuo S, Nakanishi H, Hirose K, Oura H, Arase S, Ishida-Yamamoto A, Bando Y, Izumi K, Kiyonari H, Oshima N, Nakayama R, Matsushima A, Hirota F, Mouri Y, Kuroda N, Sano S, Chaplin DD (2008) Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology. Proc Natl Acad Sci U S A 105:6720–6724
Mayuzumi N, Ikeda S, Kawada H, Fan PS, Ogawa H (2005) Effects of ultraviolet B irradiation, proinflammatory cytokines and raised extracellular calcium concentration on the expression of ATP2A2 and ATP2C1. Br J Dermatol 152:697–701
McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA (1997) Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 17:240–244
McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ (2000) Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355:2119–2124
Medansky RS (1961) WOLOSHIN AA: Darier’s disease. An evaluation of its neuropsychiatric component. Arch Dermatol 84:482–484
Meng JJ, Bornslaeger EA, Green KJ, Steinert PM, Ip W (1997) Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments. J Biol Chem 272:21495–21503
Menon GK, Cleary GW, Lane ME (2012) The structure and function of the stratum corneum. Int J Pharm 435:3–9
Mera K, Kawahara K, Tada K, Kawai K, Hashiguchi T, Maruyama I, Kanekura T (2010) ER signaling is activated to protect human HaCaT keratinocytes from ER stress induced by environmental doses of UVB. Biochem Biophys Res Commun 397:350–354
Merritt AJ, Berika MY, Zhai W, Kirk SE, Ji B, Hardman MJ, Garrod DR (2002) Suprabasal desmoglein 3 expression in the epidermis of transgenic mice results in hyperproliferation and abnormal differentiation. Mol Cell Biol 22:5846–5858
Mese G, Richard G, White TW (2007) Gap junctions: basic structure and function. J Invest Dermatol 127:2516–2524
Messenger AG, Bazzi H, Parslew R, Shapiro L, Christiano AM (2005) A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. J Invest Dermatol 125:1077–1079
Milingou M, Wood P, Masouye I, McLean WH, Borradori L (2006) Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. Dermatology 212:117–122
Montezin M, Simon M, Guerrin M, Serre G (1997) Corneodesmosin, a corneodesmosome-specific basic protein, is expressed in the cornified epithelia of the pig, guinea pig, rat, and mouse. Exp Cell Res 231:132–140
Moss C, Martinez-Mir A, Lam H, Tadin-Strapps M, Kljuic A, Christiano AM (2004) A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. J Invest Dermatol 123:607–610
Nakamura Y, Takahata H, Teye K, Ishii N, Hashimoto T, Muto M (2014) A case of pemphigus herpetiformis-like atypical pemphigus with IgG anti-desmocollin 3 antibodies. Br J Dermatol. doi:10.1111/bjd.13088
Narin N, Akcakus M, Gunes T, Celiker A, Baykan A, Uzum K, Ferahbas A (2003) Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy. PACE Pacing Clin Electrophysiol 26:2326–2329
Nie Z, Merritt A, Rouhi-Parkouhi M, Tabernero L, Garrod D (2011) Membrane-impermeable cross-linking provides evidence for homophilic, isoform-specific binding of desmosomal cadherins in epithelial cells. J Biol Chem 286:2143–2154
Niessen CM (2007) Tight junctions/adherens junctions: basic structure and function. J Invest Dermatol 127:2525–2532
Niessen CM, Gottardi CJ (2008) Molecular components of the adherens junction. Biochim Biophys Acta 1778:562–571
Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP (2000) Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 9:2761–2766
Norgett EE, Lucke TW, Bowers B, Munro CS, Leigh IM, Kelsell DP (2006) Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. J Invest Dermatol 126:1651–1654
North AJ, Chidgey MA, Clarke JP, Bardsley WG, Garrod DR (1996) Distinct desmocollin isoforms occur in the same desmosomes and show reciprocally graded distributions in bovine nasal epidermis. Proc Natl Acad Sci U S A 93:7701–7705
Oguz O, Gokler G, Ocakoglu O, Oguz V, Demirkesen C, Aydemir EH (1997) Conjunctival involvement in familial chronic benign pemphigus (Hailey-Hailey disease). Int J Dermatol 36:282–285
Oji V, Eckl KM, Aufenvenne K, Natebus M, Tarinski T, Ackermann K, Seller N, Metze D, Nurnberg G, Folster-Holst R, Schafer-Korting M, Hausser I, Traupe H, Hennies HC (2010) Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet 87:274–281
Okunade GW, Miller ML, Azhar M, Andringa A, Sanford LP, Doetschman T, Prasad V, Shull GE (2007) Loss of the Atp2c1 secretory pathway Ca(2+)-ATPase (SPCA1) in mice causes Golgi stress, apoptosis, and midgestational death in homozygous embryos and squamous cell tumors in adult heterozygotes. J Biol Chem 282:26517–26527
Olivry T, Linder KE, Wang P, Bizikova P, Bernstein JA, Dunston SM, Paps JS, Casal ML (2012) Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. PLoS ONE 7:e32072
Ozawa M, Terada H, Pedraza C (1995) The fourth armadillo repeat of plakoglobin (gamma-catenin) is required for its high affinity binding to the cytoplasmic domains of E-cadherin and desmosomal cadherin Dsg2, and the tumor suppressor APC protein. J Biochem 118:1077–1082
Payne AS (2010) No evidence of skin blisters with human desmocollin-3 gene mutation. Am J Hum Genet 86:292
Peifer M, McCrea PD, Green KJ, Wieschaus E, Gumbiner BM (1992) 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 118:681–691
Periasamy M, Reed TD, Liu LH, Ji Y, Loukianov E, Paul RJ, Nieman ML, Riddle T, Duffy JJ, Doetschman T, Lorenz JN, Shull GE (1999) Impaired cardiac performance in heterozygous mice with a null mutation in the sarco(endo)plasmic reticulum Ca2+−ATPase isoform 2 (SERCA2) gene. J Biol Chem 274:2556–2562
Petrof G, Mellerio JE, McGrath JA (2012) Desmosomal genodermatoses. Br J Dermatol 166:36–45
Pigors M, Kiritsi D, Krumpelmann S, Wagner N, He Y, Podda M, Kohlhase J, Hausser I, Bruckner-Tuderman L, Has C (2011) Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum Mol Genet 20:1811–1819
Protonotarios N, Tsatsopoulou A, Patsourakos P, Alexopoulos D, Gezerlis P, Simitsis S, Scampardonis G (1986) Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J 56:321–326
Protonotarios N, Tsatsopoulou A, Fontaine G (2001) Naxos disease: keratoderma, scalp modifications, and cardiomyopathy. J Am Acad Dermatol 44:309–311
Rafei D, Muller R, Ishii N, Llamazares M, Hashimoto T, Hertl M, Eming R (2011) IgG autoantibodies against desmocollin 3 in pemphigus sera induce loss of keratinocyte adhesion. Am J Pathol 178:718–723
Rafiq MA, Ansar M, Mahmood S, Haque S, Faiyaz-ul-Haque M, Leal SM, Ahmad W (2004) A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. J Invest Dermatol 123:247–248
Raiko L, Siljamaki E, Mahoney MG, Putaala H, Suominen E, Peltonen J, Peltonen S (2012) Hailey-Hailey disease and tight junctions: Claudins 1 and 4 are regulated by ATP2C1 gene encoding Ca(2+)/Mn(2+) ATPase SPCA1 in cultured keratinocytes. Exp Dermatol 21:586–591
Ramot Y, Molho-Pessach V, Meir T, Alper-Pinus R, Siam I, Tams S, Babay S, Zlotogorski A (2014) Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair. J Med Genet 51:388–394
Rand R, Baden HP (1983) Commentary: Darier-White disease. Arch Dermatol 119:81–83
Rao BH, Reddy IS, Chandra KS (1996) Familial occurrence of a rare combination of dilated cardiomyopathy with palmoplantar keratoderma and curly hair. Indian Heart J 48:161–162
Rickman L, Simrak D, Stevens HP, Hunt DM, King IA, Bryant SP, Eady RA, Leigh IM, Arnemann J, Magee AI, Kelsell DP, Buxton RS (1999) N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 8:971–976
Sakuntabhai A, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, Monk S, Smith M, Munro CS, O’Donovan M, Craddock N, Kucherlapati R, Rees JL, Owen M, Lathrop GM, Monaco AP, Strachan T, Hovnanian A (1999) Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet 21:271–277
Samuelov L, Sprecher E (2014) Peeling off the genetics of atopic dermatitis-like congenital disorders. J Allergy Clin Immunol 134:808–815
Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CS, Wilson NJ, Smith FJ, Pohler E, Simpson MA, McLean WH, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E (2013) Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. Nat Genet 45:1244–1248
Saruta H, Ishii N, Teye K, Ono F, Ohyama B, Koga H, Ohata C, Furumura M, Tsuruta D, Hashimoto T (2013) Two cases of pemphigus vegetans with IgG anti-desmocollin 3 antibodies. JAMA Dermatol 149:1209–1213
Savignac M, Edir A, Simon M, Hovnanian A (2011) Darier disease: a disease model of impaired calcium homeostasis in the skin. Biochim Biophys Acta 1813:1111–1117
Savignac M, Simon M, Edir A, Guibbal L, Hovnanian A (2014) SERCA2 dysfunction in Darier disease causes endoplasmic reticulum stress and impaired cell-to-cell adhesion strength: rescue by Miglustat. J Invest Dermatol 134:1961–1970
Schaffer JV, Bazzi H, Vitebsky A, Witkiewicz A, Kovich OI, Kamino H, Shapiro LS, Amin SP, Orlow SJ, Christiano AM (2006) Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. J Invest Dermatol 126:1286–1291
Schmidt A, Langbein L, Rode M, Pratzel S, Zimbelmann R, Franke WW (1997) Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components. Cell Tissue Res 290:481–499
Segre JA (2006) Epidermal barrier formation and recovery in skin disorders. J Clin Invest 116:1150–1158
Setoyama M, Choi KC, Hashimoto K, Ishihara M, Predeteanu GS, Dinehart S, Predeteanu C, Hamzavi LH, Etoh H (1991a) Desmoplakin I and II in acantholytic dermatoses: preservation in pemphigus vulgaris and pemphigus erythematosus and dissolution in Hailey-Hailey’s disease and Darier’s disease. J Dermatol Sci 2:9–17
Setoyama M, Hashimoto K, Tashiro M (1991b) Immunolocalization of desmoglein I (“band 3” polypeptide) on acantholytic cells in pemphigus vulgaris, Darier’s disease, and Hailey-Hailey’s disease. J Dermatol 18:500–505
Shimomura Y (2012) Congenital hair loss disorders: rare, but not too rare. J Dermatol 39:3–10
Shimomura Y, Sakamoto F, Kariya N, Matsunaga K, Ito M (2006) Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. J Invest Dermatol 126:1281–1285
Shimomura Y, Agalliu D, Vonica A, Luria V, Wajid M, Baumer A, Belli S, Petukhova L, Schinzel A, Brivanlou AH, Barres BA, Christiano AM (2010) APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature 464:1043–1047
Shull GE (2000) Gene knockout studies of Ca2+−transporting ATPases. Eur J Biochem 267:5284–5290
Simon M, Jonca N, Guerrin M, Haftek M, Bernard D, Caubet C, Egelrud T, Schmidt R, Serre G (2001) Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation. J Biol Chem 276:20292–20299
Simpson CL, Patel DM, Green KJ (2011) Deconstructing the skin: cytoarchitectural determinants of epidermal morphogenesis. Nat Rev Mol Cell Biol 12:565–580
Simpson MA, Mansour S, Ahnood D, Kalidas K, Patton MA, McKenna WJ, Behr ER, Crosby AH (2009) Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology 113:28–34
Sklyarova T, Bonne S, D’Hooge P, Denecker G, Goossens S, De Rycke R, Borgonie G, Bosl M, Roy F van, Hengel J van (2008) Plakophilin-3-deficient mice develop hair coat abnormalities and are prone to cutaneous inflammation. J Invest Dermatol 128:1375–1385
Smith FJ, Wilson NJ, Moss C, Dopping-Hepenstal P, McGrath J (2012) Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair. Br J Dermatol 166:894–896
Sobolik-Delmaire T, Reddy R, Pashaj A, Roberts BJ, Wahl JK 3rd (2010) Plakophilin-1 localizes to the nucleus and interacts with single-stranded DNA. J Invest Dermatol 130:2638–2646
Sprecher E, Molho-Pessach V, Ingber A, Sagi E, Indelman M, Bergman R (2004) Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families. J Invest Dermatol 122:647–651
Stappenbeck TS, Bornslaeger EA, Corcoran CM, Luu HH, Virata ML, Green KJ (1993) Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks. J Cell Biol 123:691–705
Steensel MA van, Steijlen PM, Bladergroen RS, Vermeer M, Geel M van (2005) A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. J Med Genet 42:e19
Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, Healy E, Dissanayake M, Larregue M, Perrussel M, Lehrach H, Munro CS, Strachan T, Burge S, Hovnanian A, Monaco AP (2000) Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. Hum Mol Genet 9:1131–1140
Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKenna WJ (2006) Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet 79:978–984
Tada J, Hashimoto K (1998) Ultrastructural localization of cell junctional components (desmoglein, plakoglobin, E-cadherin, and beta-catenin) in Hailey-Hailey disease, Darier’s disease, and pemphigus vulgaris. J Cutan Pathol 25:106–115
Telem DF, Israeli S, Sarig O, Sprecher E (2012) Inflammatory peeling skin syndrome caused a novel mutation in CDSN. Arch Dermatol Res 304:251–255
Vasioukhin V, Bowers E, Bauer C, Degenstein L, Fuchs E (2001) Desmoplakin is essential in epidermal sheet formation. Nat Cell Biol 3:1076–1085
Wessagowit V, McGrath JA (2005) Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome. Acta Derm Venereol 85:386–388
Wheelock MJ, Johnson KR (2003) Cadherins as modulators of cellular phenotype. Annu Rev Cell Dev Biol 19:207–235
Whittock NV, Ashton GH, Dopping-Hepenstal PJ, Gratian MJ, Keane FM, Eady RA, McGrath JA (1999) Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol 113:940–946
Whittock NV, Haftek M, Angoulvant N, Wolf F, Perrot H, Eady RA, McGrath JA (2000) Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. J Invest Dermatol 115:368–374
Whittock NV, Smith FJ, Wan H, Mallipeddi R, Griffiths WA, Dopping-Hepenstal P, Ashton GH, Eady RA, McLean WH, McGrath JA (2002a) Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol 118:838–844
Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WH, Pulkkinen L, Uitto J, Christiano AM, Eady RA, McGrath JA (2002b) Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol 118:232–238
Winik BC, Asial RA, McGrath JA, South AP, Boente MC (2009) Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder. Br J Dermatol 160:868–874
Winter H, Rogers MA, Langbein L, Stevens HP, Leigh IM, Labreze C, Roul S, Taieb A, Krieg T, Schweizer J (1997) Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet 16:372–374
Yang SX, Yin JH, Lin ZM, Wang HJ, Ren YL, Zhang J, Li RY, Yang Y (2014) A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family. Clin Exp Dermatol 39:75–77
Yoshida H (2007) ER stress and diseases. FEBS J 274:630–658
Zamiri M, Smith FJ, Campbell LE, Tetley L, Eady RA, Hodgins MB, McLean WH, Munro CS (2009) Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma. J Invest Dermatol 161:692–694
Zheng R, Bu DF, Zhu XJ (2005) Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome. Acta Derm Venereol 85:394–399
Zhou C, Zang D, Jin Y, Wu H, Liu Z, Du J, Zhang J (2011) Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. Hum Mutat 32:710–714
Zhurinsky J, Shtutman M, Ben-Ze’ev A (2000) Differential mechanisms of LEF/TCF family-dependent transcriptional activation by beta-catenin and plakoglobin. Mol Cell Biol 20:4238–4252
Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A, Frydman M, Reznik-Wolf H, Vardy DA, Pras E (2006) An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. J Invest Dermatol 126:1292–1296
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This work was supported by a generous donation of the Ram family to E.S.
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Samuelov, L., Sprecher, E. Inherited desmosomal disorders. Cell Tissue Res 360, 457–475 (2015). https://doi.org/10.1007/s00441-014-2062-y
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DOI: https://doi.org/10.1007/s00441-014-2062-y