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Literatur
Armstrong DK, McKenna KE, Purkis PE et al. (1999) Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 8(1): 143–148
Bakirtzis G, Choudhry R, Aasen T et al. (2003) Targeted epidermal expression of mutant Connexin 26 (D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders. Hum Mol Genet 12(14): 1737–1744
Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ (1995) Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet 10(3): 363–365
Brambilla L, Pigatto PD, Boneschi V, Altomare GF, Finzi AF (1984) Unusual cases of Meleda keratoderma treated with aromatic retinoid etretinate. Dermatologica 168(6): 283–286
Brun AM, Van Steensel MA (2004) A third case of HOPP syndrome-confirmation of the phenotype. Br J Dermatol 150(5): 1032–1033
Burket JM, Burket BJ, Burket DA (1984) Eyelid cysts, hypodontia and hypotrichosis. J Am Acad Dermatol 10: 922–925
Camisa C, Rossana C (1984) Variant of keratoderma hereditaria mutilans (Vohwinkel syndrome). Treatment with orally administered isotretinoin. Arch Dermatol 120(10): 1323–1328
Carvajal-Huerta L (1998) Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 39(3): 418–421
Chimienti F, Hogg RC, Plantard L et al. (2003) Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda. Hum Mol Genet 12(22): 3017–3024
Clarke C, Howel-Evans A, McConnell R (1957) Carcinoma of the oesophagus associated with tylosis. (letter). Br Med J 1: 945
Clouston HR (1929) A hereditary ectodermal dystrophy. Canad Med Assoc J 21: 18–31
Costa O (1995) Acrokeratoelastoidosis. Dermatologica 107: 164
Dowd PM, Harman RR, Black MM (1983) Focal acral hyperkeratosis. Br J Dermatol 109(1): 97–103
Fischer J, Bouadjar B, Heilig R et al. (2001) Mutations in the gene encoding SLURP-1 in Mal de Meleda. Hum Mol Genet 10(8): 875–80
Fluhr JW, Mao-Qiang M, Brown BE et al. (2004) Functional consequences of a neutral pH in neonatal rat stratum corneum. J Invest Dermatol 123(1): 140–151
Greither A (1952) Keratosis extremitatum hereditaria progrediens mit dominantem Erbgang. Hautarzt 3: 198–203
Greither A (1977) Erbliche Palmoplantarkeratosen. Hautarzt 28: 395–403
Haim S, Munk J (1969) Periodontosis a part of unknown familial congenital disorder. Refuat Hapeh Vehashinayim 18: 2–6
Hamada T, South AP, Mitsuhashi Y et al. (2002) Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. Exp Dermatol 11(2): 107–114
Hamm H, Happle R, Butterfass T, Traupe H (1988) Epidermolytic palmoplantar keratoderma of Vorner: is it the most frequent type of hereditary palmoplantar keratoderma? Dermatologica 177(3): 138–145
Hamm H, Traupe H, Brocker EB, Schubert H, Kolde G (1996) The scleroatrophic syndrome of Huriez: a cancer-prone genodermatosis. Br J Dermatol 134(3): 512–518
Hart TC, Hart PS, Michalec MD et al. (2000) Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C [see comments]. J Med Genet 37(2): 88–94
Hovorka O, Ehlers E (1896) Meledakrankheit. Arch Derm Syph 34: 51
Hu G, Yildirim M, Baysal V et al. (2003) A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect. J Invest Dermatol 120(6): 967–969
Huriez C, Agache P, Bombart M, Souilliart F (1963) Epithéliomas spinocellulaires sur atrophie cutanée congénitale dans deux familles à morbidité cancéreuse élevée. Bull Soc Fr Dermatol Syphiligr 70: 24–28
Jan AY, Amin S, Ratajczak P, Richard G, Sybert VP (2004) Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol 122(5): 1108–1113
Kimonis V, DiGiovanna JJ, Yang JM, Doyle SZ, Bale SJ, Compton JG (1994) A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. J Invest Dermatol 103(6): 764–769
Korge BP, Ishida-Yamamoto A, Punter C et al. (1997) Loricrin mutation in Vohwinkel keratoderma is unique to the variant with ichthyosis. J Invest Dermatol 109(4): 604–610
Kuster W, Becker A (1992) Indication for the identity of palmoplantar keratoderma type Unna-host with type Vorner. Thost family revisited 110 years later. Acta Derm Venereol 72(2): 120–122
Lamartine J, Munhoz Essenfelder G, Kibar Z et al. (2000) Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet 26(2): 142–144
Lee YA, Stevens HP, Delaporte E, Wahn U, Reis A (2000) A gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez syndrome) maps to chromosome 4q23. Am J Hum Genet 66(1): 326–330
Lestringant GG, Hadi SM, Qayed KI, Blayney BJ (1992) Mal de Meleda: recessive transgressive palmoplantar keratoderma with three unusual facultative features. Dermatology 184(1): 78–82
Lossos A, Cooperman H, Soffer D et al. (1995) Hereditary leukoencephalopathy and palmoplantar keratoderma: a new disorder with increased skin collagen content. Neurology 45(2): 331–337
Lucker GP, Steijlen PM (1996) [Keratosis palmoplantaris varians et punctata. Clinical variability of an single genetic defect?]. Hautarzt 47(11): 858–859
Maestrini E, Korge BP, Ocana-Sierra J et al. (1999) A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel syndrome) in three unrelated families. Hum Mol Genet 8(7): 1237–1243
Maestrini E, Monaco AP, McGrath JA et al. (1996) A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel syndrome. Nat Genet 13(1): 70–77
Martinez-Mir A, Zlotogorski A, Londono D et al. (2003) Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22–q24. J Med Genet 40(12): 872–878
McGrath JA, McMillan JR, Shemanko CS et al. (1997) Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 17(2): 240–244
McKoy G, Protonotarios N, Crosby A et al. (2000) Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355(9221): 2119–2124
McLean WH, Rugg EL, Lunny DP et al. (1995) Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet 9(3): 273–278
Natt E, Kao FT, Rettenmeier R, Scherer G (1986) Assignment of the human tyrosine aminotransferase gene to chromosome 16. Hum Genet 72(3): 225–228
Natt E, Kida K, Odievre M, Di Rocco M, Scherer G (1992) Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. Proc Natl Acad Sci U S A 89(19): 9297–9301
Natt E, Westphal EM, Toth-Fejel SE et al. (1987) Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1–q22.3 in a patient with tyrosinemia type II. Hum Genet 77(4): 352–358
Norgett EE, Hatsell SJ, Carvajal-Huerta L et al. (2000) Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 9(18): 2761–2766
Ogawa F, Udono M, Murota H et al. (2003) Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation. Eur J Dermatol 13(6): 524–528
Olmsted H (1927) Keratoderma palmaris et plantaris congenitalis. Am J Dis Child 33: 757–764
Papillon M, Lefèvre P (1924) Deux cas de keratodermie palmaire et plantaire symmetrique familiale (Maladie de Meleda) chez le frere et la soer. Coexistance dans les deux cas d’alterations dentaires graves. Societé Française de Dermatologie et de Syphiligrahie 31: 82
Reis A, Hennies HC, Langbein L et al. (1994) Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet 6(2): 174–179
Richard G, Whyte YM, Smith L, Itin P, Hohl D, Wollina U Epstein E, Lin JP, Bale SJ (1996) Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity, and analysis of candidate genes. J Invest Dermatol 107: 481
Rickman L, Simrak D, Stevens HP et al. (1999) N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 8(6): 971–976
Risk JM, Field EA, Field JK et al. (1994) Tylosis oesophageal cancer mapped. Nat Genet 8(4): 319–321
Roth W, Penneys NS, Fawcett N (1978) Hereditary painful callosities. Arch Dermatol 114(4): 591–592
Schöpf E, Schulz HJ, Passarge E (1971) Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. Birth Defects Orig Artic Ser 7(8): 219–221
Schulz HJ, Passarge E (1997) Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. Birth Defects Orig Artic Ser 7: 219–221
Shamsher MK, Navsaria HA, Stevens HP et al. (1995) Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. Hum Mol Genet 4(10): 1875–1881
Smith FJ, Corden LD, Rugg EL et al. (1997) Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. J Invest Dermatol 108(2): 220–223
Smith FJ, Jonkman MF, van Goor H et al. (1998) A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet 7(7): 1143–1148
South AP, Wan H, Stone MG et al. (2003) Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability. J Cell Sci 116 (Pt 16): 3303–3314
Steijlen PM, van Steensel MA, Jansen BJ et al. (2004) Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin-1 gene. J Invest Dermatol 122(5): 1321–1324
Stevens HP, Kelsell DP, Leigh IM, Ostlere LS, MacDermot KD, Rustin MH (1996) Punctate palmoplantar keratoderma and malignancy in a four-generation family. Br J Dermatol 134(4): 720–726
Toomes C, James J, Wood AJ et al. (1999) Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis [see comments]. Nat Genet 23(4): 421–424
van Steensel MA, Jonkman MF, van Geel M, Steijlen PM, McLean WH, Smith FJ (2003) Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol 121(5): 1035–1038
Van Steensel MA, Van Geel M, Steijlen PM (2002) New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C. Br J Dermatol 147(3): 575–581
Van Steensel MA, van Geel MV, Steijlen PM (2002) Mal de Meleda without mutations in the ARS coding sequence. Eur J Dermatol 12(2): 129–132
Vohwinkel K (1929) Keratoderma hereditarium mutilans. Arch Derm Syph 158: 354–364
Vörner H (1901) Zur Kenntnis des Keratoma hereditarium palmare et plantare. Arch Dermatol Syph 56: 3–31
Whittock NV, Ashton GH, Dopping-Hepenstal PJ et al. (1999) Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol 113(6): 940–946
Yoshizaki Y, Kanki H, Ueda T, Ichihashi M, Ueda M (2001) A further case of plantar squamous cell carcinoma arising in Olmsted syndrome. Br J Dermatol 145(4): 685–686
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van Steensel, M., Steijlen, P.M. (2006). Palmoplantarkeratosen. In: Pädiatrische Dermatologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-31259-5_5
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