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Volumn 132, Issue 6, 1996, Pages 640-651

Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24: Literature survey and proposed updated classification of the keratodermas

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 17Q; CLINICAL ARTICLE; DISEASE CLASSIFICATION; ECTODERMAL DYSPLASIA; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC LINKAGE; GENETIC RISK; HUMAN; KERATOSIS PALMOPLANTARIS; MALE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SQUAMOUS CELL CARCINOMA;

EID: 0029988982     PISSN: 0003987X     EISSN: None     Source Type: Journal    
DOI: 10.1001/archderm.132.6.640     Document Type: Article
Times cited : (157)

References (143)
  • 1
    • 78651056572 scopus 로고
    • Carcinoma of the oesophagus with keratosis palmaris et plantaris (tylosis): A study of 2 families
    • Howel-Evans W, McConnell RB, Clarke CA, Sheppard PM. Carcinoma of the oesophagus with keratosis palmaris et plantaris (tylosis): a study of 2 families. Q J Med. 1958;27:413-429.
    • (1958) Q J Med , vol.27 , pp. 413-429
    • Howel-Evans, W.1    McConnell, R.B.2    Clarke, C.A.3    Sheppard, P.M.4
  • 2
    • 0028327308 scopus 로고
    • Tylosis associated with carcinoma of the oesophagus and oral leukoplakia in a large Liverpool family: A review of six generations
    • Ellis A, Field EA, Field JK, et al. Tylosis associated with carcinoma of the oesophagus and oral leukoplakia in a large Liverpool family: a review of six generations. Eur J Cancer B Oral Oncol. 1994;30B:102-112.
    • (1994) Eur J Cancer B Oral Oncol , vol.30 B , pp. 102-112
    • Ellis, A.1    Field, E.A.2    Field, J.K.3
  • 4
    • 0027198641 scopus 로고
    • Carcinoma of the esophagus and tylosis: A lethal genetic combination
    • Marger RS, Marger D. Carcinoma of the esophagus and tylosis: a lethal genetic combination. Cancer. 1993;72:17-19.
    • (1993) Cancer , vol.72 , pp. 17-19
    • Marger, R.S.1    Marger, D.2
  • 5
    • 0018830137 scopus 로고
    • Genetic tylosis with malignancy: A study of a South Indian pedigree
    • Yesudian P, Premalatha S, Thambiah AS. Genetic tylosis with malignancy: a study of a South Indian pedigree. Br J Dermatol. 1980;102:597-600.
    • (1980) Br J Dermatol , vol.102 , pp. 597-600
    • Yesudian, P.1    Premalatha, S.2    Thambiah, A.S.3
  • 6
    • 0014031756 scopus 로고
    • Carcinoma of the oesophagus and tylosis
    • Shine I, Allison PR. Carcinoma of the oesophagus and tylosis. Lancet. 1966; 1:951-952.
    • (1966) Lancet , vol.1 , pp. 951-952
    • Shine, I.1    Allison, P.R.2
  • 7
    • 0017310775 scopus 로고
    • Esophageal cancer, hyperkeratosis, and oral leukoplakia: Occurrence in a 25-year-old woman
    • Ritter SB, Petersen G. Esophageal cancer, hyperkeratosis, and oral leukoplakia: occurrence in a 25-year-old woman. JAMA. 1976;235:1723.
    • (1976) JAMA , vol.235 , pp. 1723
    • Ritter, S.B.1    Petersen, G.2
  • 8
    • 84965291753 scopus 로고
    • Tylosis, leukoplakia, and oesophageal carcinoma
    • Tyldesley WR. Tylosis, leukoplakia, and oesophageal carcinoma. BMJ. 1973; 4:427-431.
    • (1973) BMJ , vol.4 , pp. 427-431
    • Tyldesley, W.R.1
  • 9
    • 0016307621 scopus 로고
    • Oral leukoplakia associated with tylosis and esophageal carcinoma
    • Tyldesley WR. Oral leukoplakia associated with tylosis and esophageal carcinoma. J Oral Pathol. 1974;3:62-70.
    • (1974) J Oral Pathol , vol.3 , pp. 62-70
    • Tyldesley, W.R.1
  • 10
    • 0016802927 scopus 로고
    • Ultrastructure of the oral epithelium in leukoplakia associated with tylosis and esophageal carcinoma
    • Tyldesley WR, Kempson SA. Ultrastructure of the oral epithelium in leukoplakia associated with tylosis and esophageal carcinoma. J Oral Pathol. 1975; 4:49-58.
    • (1975) J Oral Pathol , vol.4 , pp. 49-58
    • Tyldesley, W.R.1    Kempson, S.A.2
  • 12
  • 13
    • 0026783996 scopus 로고
    • Classification of autosomal dominant palmoplantar keratoderma: Past-present-future
    • Itin PH. Classification of autosomal dominant palmoplantar keratoderma: past-present-future. Dermatology. 1992;185:163-165.
    • (1992) Dermatology , vol.185 , pp. 163-165
    • Itin, P.H.1
  • 14
    • 0022485408 scopus 로고
    • The role of keratin subfamilies and keratin pairs in the formation of human epidermal intermediate filaments
    • Eichner R, Sun T-T, Aebi U. The role of keratin subfamilies and keratin pairs in the formation of human epidermal intermediate filaments. J Cell Biol. 1986; 102:1767-1777.
    • (1986) J Cell Biol , vol.102 , pp. 1767-1777
    • Eichner, R.1    Sun, T.-T.2    Aebi, U.3
  • 15
    • 0028864458 scopus 로고
    • Novel mutations in keratin 16 gene underlie focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families
    • Shamsher M, Navsaria HA, Stevens HP, et al. Novel mutations in keratin 16 gene underlie focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. J Invest Dermatol. 1995;4:1875-1881.
    • (1995) J Invest Dermatol , vol.4 , pp. 1875-1881
    • Shamsher, M.1    Navsaria, H.A.2    Stevens, H.P.3
  • 16
    • 0028242804 scopus 로고
    • Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)
    • Reis A, Hennies H-C, Langbein L, et al. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nature Genet. 1994;6:174-179.
    • (1994) Nature Genet , vol.6 , pp. 174-179
    • Reis, A.1    Hennies, H.-C.2    Langbein, L.3
  • 18
    • 0028842339 scopus 로고
    • Keratin 16 and keratin 17 mutations cause pachyonychia congenita
    • McLean WHI, Rugg EL, Lunny DP, et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nature Genet. 1995;9:273-278.
    • (1995) Nature Genet , vol.9 , pp. 273-278
    • McLean, W.H.I.1    Rugg, E.L.2    Lunny, D.P.3
  • 19
    • 0029065468 scopus 로고
    • Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: Evidence for heterogeneity
    • Kelsell DP, Stevens HP, Ratnavel R, et al. Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity. Hum Mol Genet. 1995;4:1021-1025.
    • (1995) Hum Mol Genet , vol.4 , pp. 1021-1025
    • Kelsell, D.P.1    Stevens, H.P.2    Ratnavel, R.3
  • 20
    • 0027959196 scopus 로고
    • The gene for diffuse palmoplantar keratoderma of the type found in Northern Sweden is localised to chromosome 12q11-q13
    • Lind L, Lündstrom A, Hofer PA, Holmgren G. The gene for diffuse palmoplantar keratoderma of the type found in Northern Sweden is localised to chromosome 12q11-q13. Hum Mol Genet. 1994;3:1789-1793.
    • (1994) Hum Mol Genet , vol.3 , pp. 1789-1793
    • Lind, L.1    Lündstrom, A.2    Hofer, P.A.3    Holmgren, G.4
  • 21
    • 0014542870 scopus 로고
    • Tylosis palmaris et plantaris: Its occurrence with internal malignancy
    • Parnell DA, Johnson SAM. Tylosis palmaris et plantaris: its occurrence with internal malignancy. Arch Dermatol. 1969;100:7-9.
    • (1969) Arch Dermatol , vol.100 , pp. 7-9
    • Parnell, D.A.1    Johnson, S.A.M.2
  • 22
    • 0017058139 scopus 로고
    • Hyperkeratosis of the palms and soles associated with internal malignancy and elevated levels of immunoreactive human growth hormone
    • Millard LG, Gould DJ. Hyperkeratosis of the palms and soles associated with internal malignancy and elevated levels of immunoreactive human growth hormone. Clin Exp Dermatol. 1976;1:363-368.
    • (1976) Clin Exp Dermatol , vol.1 , pp. 363-368
    • Millard, L.G.1    Gould, D.J.2
  • 23
    • 0028359660 scopus 로고
    • Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer
    • Torchard D, Blanchet-Bardon C, Serova O, et al. Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer. Nature Genet. 1994;6:106-110.
    • (1994) Nature Genet , vol.6 , pp. 106-110
    • Torchard, D.1    Blanchet-Bardon, C.2    Serova, O.3
  • 24
    • 0023158979 scopus 로고
    • Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred
    • Blanchet-Bardon C, Nazzaro V, Chevrant-Breton J, Espie M, Kerbrat P, Le Marec B. Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred. Br J Dermatol. 1987;117:363-370.
    • (1987) Br J Dermatol , vol.117 , pp. 363-370
    • Blanchet-Bardon, C.1    Nazzaro, V.2    Chevrant-Breton, J.3    Espie, M.4    Kerbrat, P.5    Le Marec, B.6
  • 25
    • 0022336268 scopus 로고
    • Kératodermie palmoplantaire épidermolytique, autosomique dominante et adénocarcinomes familiaux (étude de 4 générations)
    • Chevrant-Breton J, Kerbrat P, Le Marec B, Guérin D. Kératodermie palmoplantaire épidermolytique, autosomique dominante et adénocarcinomes familiaux (étude de 4 générations). Ann Dermatol Venereol. 1985;112:841-844.
    • (1985) Ann Dermatol Venereol , vol.112 , pp. 841-844
    • Chevrant-Breton, J.1    Kerbrat, P.2    Le Marec, B.3    Guérin, D.4
  • 26
    • 0027374139 scopus 로고
    • Genetic analysis of the BRCA1 region in a large breast/ovarian family: Refinement of the minimal region containing BRCA1
    • Kelsell DP, Black OM, Bishop DT, Spurr NK. Genetic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1. Hum Mol Genet. 1993;11:1823-1828.
    • (1993) Hum Mol Genet , vol.11 , pp. 1823-1828
    • Kelsell, D.P.1    Black, O.M.2    Bishop, D.T.3    Spurr, N.K.4
  • 27
    • 0028231090 scopus 로고
    • The 1993-94 Généthon human genetic linkage map
    • Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Généthon human genetic linkage map. Nature Genet. 1994;7:246-339.
    • (1994) Nature Genet , vol.7 , pp. 246-339
    • Gyapay, G.1    Morissette, J.2    Vignal, A.3
  • 30
    • 3142581121 scopus 로고
    • Palmar and plantar keratoderma with hyperpigmentation and gynaecomastia: Report of a case associated with primary adenocarcinoma of the lung
    • Riddick L, Brodkin RH, Gibbs RC. Palmar and plantar keratoderma with hyperpigmentation and gynaecomastia: report of a case associated with primary adenocarcinoma of the lung. Acta Derm Venereol. 1970;57:590-591.
    • (1970) Acta Derm Venereol , vol.57 , pp. 590-591
    • Riddick, L.1    Brodkin, R.H.2    Gibbs, R.C.3
  • 31
    • 0020345623 scopus 로고
    • Hyperkératose palmo-plantaire associée àun adénocarcinome gastrique
    • Votion V, Mineur P, Mirgaux M, Aupaix M. Hyperkératose palmo-plantaire associée àun adénocarcinome gastrique. Dermatologica 1982;165:660-663.
    • (1982) Dermatologica , vol.165 , pp. 660-663
    • Votion, V.1    Mineur, P.2    Mirgaux, M.3    Aupaix, M.4
  • 32
    • 0020083776 scopus 로고
    • Palmo-plantar keraloderma associated with carcinoma of the bronchus
    • Kerdel FA, MacDonald OM. Palmo-plantar keraloderma associated with carcinoma of the bronchus. Acta Derm Venereol (Stockh). 1982;62:178-180.
    • (1982) Acta Derm Venereol (Stockh) , vol.62 , pp. 178-180
    • Kerdel, F.A.1    MacDonald, O.M.2
  • 33
    • 0025833792 scopus 로고
    • Palmoplantar keratoderma in non-cutaneous T-cell lymphoma
    • Trattner A, Katzenelson V, Sandbank M. Palmoplantar keratoderma in non-cutaneous T-cell lymphoma. Int J Dermatol. 1991;30:871-872.
    • (1991) Int J Dermatol , vol.30 , pp. 871-872
    • Trattner, A.1    Katzenelson, V.2    Sandbank, M.3
  • 34
    • 0025883936 scopus 로고
    • Hereditary epidermolytic palmoplantar keratoderma (Vömer type): Report of a family and review of the literature
    • Requena L, Schoendorff C, Sanchez YE. Hereditary epidermolytic palmoplantar keratoderma (Vömer type): report of a family and review of the literature. Clin Exp Dermatol. 1991;16:383-388.
    • (1991) Clin Exp Dermatol , vol.16 , pp. 383-388
    • Requena, L.1    Schoendorff, C.2    Sanchez, Y.E.3
  • 35
    • 0026017856 scopus 로고
    • Hereditary epidermolytic palmoplantar keratoderma with knuckle pad-like lesions over the finger joints
    • Nogita T, Nakagawa H, Ishibashi Y. Hereditary epidermolytic palmoplantar keratoderma with knuckle pad-like lesions over the finger joints. Br J Dermatol. 1991;125:496.
    • (1991) Br J Dermatol , vol.125 , pp. 496
    • Nogita, T.1    Nakagawa, H.2    Ishibashi, Y.3
  • 36
    • 0022274137 scopus 로고
    • Malignant melanoma is associated with keratosis palmaris et plantaris (epidermolytic hyperkeratosis variant)
    • Carlos U, Man HS. Malignant melanoma is associated with keratosis palmaris et plantaris (epidermolytic hyperkeratosis variant). Am J Dermatol. 1985; 7:187-190.
    • (1985) Am J Dermatol , vol.7 , pp. 187-190
    • Carlos, U.1    Man, H.S.2
  • 37
    • 0022373634 scopus 로고
    • Two different clinical and genetic forms of hereditary keratoderma in the northernmost county of Sweden
    • Nielsen PG. Two different clinical and genetic forms of hereditary keratoderma in the northernmost county of Sweden. Clin Genet. 1985;28:361-366.
    • (1985) Clin Genet , vol.28 , pp. 361-366
    • Nielsen, P.G.1
  • 40
    • 0027360792 scopus 로고
    • Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type 1 genes
    • Rogaev EI, Rogaev EA, Ginter EK, et al. Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type 1 genes. Nature Genet. 1993;5:158-162.
    • (1993) Nature Genet , vol.5 , pp. 158-162
    • Rogaev, E.I.1    Rogaev, E.A.2    Ginter, E.K.3
  • 42
    • 0025809412 scopus 로고
    • Is erythrokeratoderma one disorder? a clinical and ultrastruclural study of two siblings
    • MacFarlane AW, Chapman SJ, Verbov JL. Is erythrokeratoderma one disorder? a clinical and ultrastruclural study of two siblings. Br J Dermatol. 1991; 124:487-491.
    • (1991) Br J Dermatol , vol.124 , pp. 487-491
    • MacFarlane, A.W.1    Chapman, S.J.2    Verbov, J.L.3
  • 43
    • 0009528648 scopus 로고
    • Keratosis extremitatum hereditaria progrediens mit dominantem Erbgang
    • Greither A. Keratosis extremitatum hereditaria progrediens mit dominantem Erbgang. Hautarzt. 1952;3:198-203.
    • (1952) Hautarzt , vol.3 , pp. 198-203
    • Greither, A.1
  • 44
    • 3142655050 scopus 로고
    • Keratosis palmo-plantaris progrediens hereditaria mit dominantem Erbgang
    • Grin E, Salmon T, Milicevic M. Keratosis palmo-plantaris progrediens hereditaria mit dominantem Erbgang. Arch Klin Exp Dermatol. 1962;214:378-393.
    • (1962) Arch Klin Exp Dermatol , vol.214 , pp. 378-393
    • Grin, E.1    Salmon, T.2    Milicevic, M.3
  • 45
    • 0028819249 scopus 로고
    • Malignant melanoma developing in an area of palmoplanlar keratoderma (Greither's disease)
    • Seike T, Nakanishi H, Urano Y, Arase S. Malignant melanoma developing in an area of palmoplanlar keratoderma (Greither's disease). J Dermatol. 1995; 22:55-61.
    • (1995) J Dermatol , vol.22 , pp. 55-61
    • Seike, T.1    Nakanishi, H.2    Urano, Y.3    Arase, S.4
  • 47
    • 3142581676 scopus 로고
    • Greither's disease and erythrokeratoderma variabilis (EKV) caused by the same mutation on chromosome 1
    • Abstract
    • Gedde-Dahl TJ, Rogde S, Helsing P, Gabrielsen T, Olaisen B. Greither's disease and erythrokeratoderma variabilis (EKV) caused by the same mutation on chromosome 1. Hum Genome Mapping.1993;1:93. Abstract.
    • (1993) Hum Genome Mapping , vol.1 , pp. 93
    • Gedde-Dahl, T.J.1    Rogde, S.2    Helsing, P.3    Gabrielsen, T.4    Olaisen, B.5
  • 48
    • 0006037254 scopus 로고
    • Keratosis palmo-plantaris striata
    • Siemens HW. Keratosis palmo-plantaris striata. Arch Dermatol Syphilol. 1929; 157:392-408.
    • (1929) Arch Dermatol Syphilol , vol.157 , pp. 392-408
    • Siemens, H.W.1
  • 50
    • 0029041276 scopus 로고
    • Localisation of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster
    • Hennies H-C, Küster W, Mischke D, Reis A. Localisation of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster. Hum Mol Genet. 1995;4:1015-1020.
    • (1995) Hum Mol Genet , vol.4 , pp. 1015-1020
    • Hennies, H.-C.1    Küster, W.2    Mischke, D.3    Reis, A.4
  • 51
    • 0000973886 scopus 로고
    • Multiple arsenical cancers of the skin and internal organs
    • Sommers SC, McManus RG. Multiple arsenical cancers of the skin and internal organs. Cancer. 1953;6:347-358.
    • (1953) Cancer , vol.6 , pp. 347-358
    • Sommers, S.C.1    McManus, R.G.2
  • 56
    • 0015718011 scopus 로고
    • Punctate porokeratotic keratoderma
    • Herman PS. Punctate porokeratotic keratoderma. Dermatologica. 1973;147: 206-213.
    • (1973) Dermatologica , vol.147 , pp. 206-213
    • Herman, P.S.1
  • 58
    • 0018823688 scopus 로고
    • Dermatosis punctata of the palmar creases
    • Weiss RM, Rasmussen JE. Dermatosis punctata of the palmar creases. Arch Dermatol. 1980;116:669-671.
    • (1980) Arch Dermatol , vol.116 , pp. 669-671
    • Weiss, R.M.1    Rasmussen, J.E.2
  • 59
    • 0020596619 scopus 로고
    • Keratodermia palmoplantare papuloverrucoides progressiva: Successful treatment with etretinate
    • Baran R, Juhlin L. Keratodermia palmoplantare papuloverrucoides progressiva: successful treatment with etretinate. J Am Acad Dermatol. 1983;8:700-702.
    • (1983) J Am Acad Dermatol , vol.8 , pp. 700-702
    • Baran, R.1    Juhlin, L.2
  • 61
    • 0022611149 scopus 로고
    • Associazione della cheratodermia palmo-plantare punctata con altre condizioni morbose (canizie precoce, carcinoma del colon)
    • Ena P, Cottoni F, Cerimele D, Saccabusi S, Retanda G. Associazione della cheratodermia palmo-plantare punctata con altre condizioni morbose (canizie precoce, carcinoma del colon). G Ital Dermatol Venereol. 1986;121:45-54.
    • (1986) G Ital Dermatol Venereol , vol.121 , pp. 45-54
    • Ena, P.1    Cottoni, F.2    Cerimele, D.3    Saccabusi, S.4    Retanda, G.5
  • 62
    • 0021342066 scopus 로고
    • Keratosis punctate palmaris et plantaris and adenocarcinoma of the colon
    • Bennion SD, Patterson JW. Keratosis punctate palmaris et plantaris and adenocarcinoma of the colon. J Am Acad Dermatol. 1984;10:587-591.
    • (1984) J Am Acad Dermatol , vol.10 , pp. 587-591
    • Bennion, S.D.1    Patterson, J.W.2
  • 63
    • 0026735926 scopus 로고
    • Spiny keratoderma ot the palms and soles
    • Osman Y, Daly TJ, Don PC. Spiny keratoderma ot the palms and soles. J Am Acad Dermatol. 1992;26:879-881.
    • (1992) J Am Acad Dermatol , vol.26 , pp. 879-881
    • Osman, Y.1    Daly, T.J.2    Don, P.C.3
  • 64
    • 0016008866 scopus 로고
    • Palmoplantar keratosis acuminate with facial sebaceous hyperplasia
    • Schiff B, Hughes D. Palmoplantar keratosis acuminate with facial sebaceous hyperplasia. Arch Dermatol. 1974;109:86-87.
    • (1974) Arch Dermatol , vol.109 , pp. 86-87
    • Schiff, B.1    Hughes, D.2
  • 65
    • 0015185141 scopus 로고
    • Punctate keratoderma
    • Brown F. Punctate keratoderma. Arch Dermatol. 1971;104:682-683.
    • (1971) Arch Dermatol , vol.104 , pp. 682-683
    • Brown, F.1
  • 66
    • 0024372318 scopus 로고
    • Porokeratosis punctata palmaris et plantaris
    • Lestringant GG, Berge T. Porokeratosis punctata palmaris et plantaris. Arch Dermatol. 1989;125:816-819.
    • (1989) Arch Dermatol , vol.125 , pp. 816-819
    • Lestringant, G.G.1    Berge, T.2
  • 67
    • 0022453328 scopus 로고
    • Porokeratosis plantaris, palmaris, et disseminata
    • Marschalkó M, Somlai B. Porokeratosis plantaris, palmaris, et disseminata. Arch Dermatol. 1986;122:890-891.
    • (1986) Arch Dermatol , vol.122 , pp. 890-891
    • Marschalkó, M.1    Somlai, B.2
  • 69
    • 0000106491 scopus 로고
    • Acrokeratoelastoidosis
    • Costa OG. Acrokeratoelastoidosis. Dermatologies. 1953;107:164-168.
    • (1953) Dermatologies , vol.107 , pp. 164-168
    • Costa, O.G.1
  • 70
    • 0013879957 scopus 로고
    • Degenerative collagenous plaques of the hands
    • Ritchie EB, Williams HM. Degenerative collagenous plaques of the hands. Arch Dermatol. 1966;93:202-203.
    • (1966) Arch Dermatol , vol.93 , pp. 202-203
    • Ritchie, E.B.1    Williams, H.M.2
  • 71
    • 0017517953 scopus 로고
    • Acrokerato-elastoides in a Somerset mother and two sons
    • Matthews CNA, Harman RRM. Acrokerato-elastoides in a Somerset mother and two sons. Br J Dermatol. 1977;97(suppl 15):42-43.
    • (1977) Br J Dermatol , vol.97 , Issue.15 SUPPL. , pp. 42-43
    • Matthews, C.N.A.1    Harman, R.R.M.2
  • 72
    • 0019205582 scopus 로고
    • Focal palmoplantar keratoderma and oral mucosa hyperkeratosis syndrome: A report concerning five members of a family
    • Laskaris G, Vareltzidis A, Avgerinou G. Focal palmoplantar keratoderma and oral mucosa hyperkeratosis syndrome: a report concerning five members of a family. Oral Surg. 1980;50:250-253.
    • (1980) Oral Surg , vol.50 , pp. 250-253
    • Laskaris, G.1    Vareltzidis, A.2    Avgerinou, G.3
  • 73
    • 0017064549 scopus 로고
    • Focal palmoplantar and marginal gingival hyperkeratosis: A syndrome
    • Gorlin RJ. Focal palmoplantar and marginal gingival hyperkeratosis: a syndrome. Birth Defects. 1976;12:239-242.
    • (1976) Birth Defects , vol.12 , pp. 239-242
    • Gorlin, R.J.1
  • 74
    • 0023242490 scopus 로고
    • Autosomal dominant painful plantar callosities
    • Rachid A, Freire-Maia N, Pinheiro M. Autosomal dominant painful plantar callosities. Am J Med Genet. 1987;26:185-187.
    • (1987) Am J Med Genet , vol.26 , pp. 185-187
    • Rachid, A.1    Freire-Maia, N.2    Pinheiro, M.3
  • 75
    • 0021223160 scopus 로고
    • Hereditary callosities with blisters: Report of a family and review
    • Baden HP, Bronstein BR, Rand RE. Hereditary callosities with blisters: report of a family and review. J Am Acad Dermatol. 1984;11:409-411.
    • (1984) J Am Acad Dermatol , vol.11 , pp. 409-411
    • Baden, H.P.1    Bronstein, B.R.2    Rand, R.E.3
  • 78
    • 0017273255 scopus 로고
    • Pachyonychia congenita with involvement of the larynx
    • Cohn AM, McFarlane JR, Knox J. Pachyonychia congenita with involvement of the larynx. Arch Otolaryngol. 1976;102:233-235.
    • (1976) Arch Otolaryngol , vol.102 , pp. 233-235
    • Cohn, A.M.1    McFarlane, J.R.2    Knox, J.3
  • 79
    • 0020312292 scopus 로고
    • Focal palmoplantar and gingival hyperkeratosis syndrome: Report of a family, with cytologic, ultrastructural, and histochemical findings
    • Young WG, Newcomb GM, Daley TJ. Focal palmoplantar and gingival hyperkeratosis syndrome: report of a family, with cytologic, ultrastructural, and histochemical findings. Oral Surg. 1982;53:473-482.
    • (1982) Oral Surg , vol.53 , pp. 473-482
    • Young, W.G.1    Newcomb, G.M.2    Daley, T.J.3
  • 80
    • 0018873881 scopus 로고
    • The pachyonychia congenita syndrome
    • Schönfeld PHIR. The pachyonychia congenita syndrome. Acta Derm Venereol. 1980;60:45-49.
    • (1980) Acta Derm Venereol , vol.60 , pp. 45-49
    • Schönfeld, P.H.I.R.1
  • 81
    • 76949122396 scopus 로고
    • Pachyonychia congenita: A report of six cases in one family
    • Jackson ADM, Lawler SD. Pachyonychia congenita: a report of six cases in one family. Ann Eugenics. 1951;16:142-146.
    • (1951) Ann Eugenics , vol.16 , pp. 142-146
    • Jackson, A.D.M.1    Lawler, S.D.2
  • 82
    • 0006920687 scopus 로고
    • Steatocystoma multiplex with pachyonychia congenita
    • Vineyard WR, Scott RA. Steatocystoma multiplex with pachyonychia congenita. Arch Dermatol. 1961;84:166-169.
    • (1961) Arch Dermatol , vol.84 , pp. 166-169
    • Vineyard, W.R.1    Scott, R.A.2
  • 83
    • 0018330757 scopus 로고
    • The Papillon-Lefèvre syndrome: Keratosis palmoplantaris with periodontopathy: report of a case and review of the cases in the literature
    • Haneke E. The Papillon-Lefèvre syndrome: keratosis palmoplantaris with periodontopathy: report of a case and review of the cases in the literature. Hum Genet. 1979;51:1-35.
    • (1979) Hum Genet , vol.51 , pp. 1-35
    • Haneke, E.1
  • 84
    • 84943444900 scopus 로고
    • Malignant melanoma and Papillon-Lefèvre syndrome
    • Shoshana H-Z, Leonard G. Malignant melanoma and Papillon-Lefèvre syndrome. Arch Dermatol. 1982;118:2.
    • (1982) Arch Dermatol , vol.118 , pp. 2
    • Shoshana, H.-Z.1    Leonard, G.2
  • 85
    • 0017798658 scopus 로고
    • Tyrosine-induced skin disease
    • Goldsmith LA. Tyrosine-induced skin disease. Br J Dermatol. 1978;98:119-123.
    • (1978) Br J Dermatol , vol.98 , pp. 119-123
    • Goldsmith, L.A.1
  • 86
    • 0019411093 scopus 로고
    • Richner-Hanhart syndrome (tyrosinaemia-II): Report of four cases without ocular involvement
    • Rehák A, Selim MM, Yadav G. Richner-Hanhart syndrome (tyrosinaemia-II): report of four cases without ocular involvement. Br J Dermatol. 1981;104: 469-475.
    • (1981) Br J Dermatol , vol.104 , pp. 469-475
    • Rehák, A.1    Selim, M.M.2    Yadav, G.3
  • 87
    • 0023552350 scopus 로고
    • Tyrasinaemia type II (Richner-Hanhart syndrome): Report of two cases treated with etretinate
    • Fraser NG, MacDonald J, Griffiths WAD, McPhie JL. Tyrasinaemia type II (Richner-Hanhart syndrome): report of two cases treated with etretinate. Clin Exp Dermatol. 1987;12:440-443.
    • (1987) Clin Exp Dermatol , vol.12 , pp. 440-443
    • Fraser, N.G.1    MacDonald, J.2    Griffiths, W.A.D.3    McPhie, J.L.4
  • 88
    • 0018570298 scopus 로고
    • Hepatic enzymes of tyrosine metabolism in tyrosinaemia: II
    • Goldsmith LA, Thorpe JM, Roe CR. Hepatic enzymes of tyrosine metabolism in tyrosinaemia: II. J Invest Dermatol. 1979;73:530-532.
    • (1979) J Invest Dermatol , vol.73 , pp. 530-532
    • Goldsmith, L.A.1    Thorpe, J.M.2    Roe, C.R.3
  • 89
    • 0014472314 scopus 로고
    • Soluble and mitochondrial forms of tyrosine aminotransferase: Relationship to human tyrosinaemia
    • Fellman JH, Vanbellinghen PJ, Jones RT, Koler RD. Soluble and mitochondrial forms of tyrosine aminotransferase: relationship to human tyrosinaemia. Biochemistry. 1969;8:615-622.
    • (1969) Biochemistry , vol.8 , pp. 615-622
    • Fellman, J.H.1    Vanbellinghen, P.J.2    Jones, R.T.3    Koler, R.D.4
  • 90
    • 0025093598 scopus 로고
    • Mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome)
    • Atherton DJ, Sutton C, Jones BM. Mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome). Br J Dermatol. 1990;122: 245-252.
    • (1990) Br J Dermatol , vol.122 , pp. 245-252
    • Atherton, D.J.1    Sutton, C.2    Jones, B.M.3
  • 91
    • 0025776693 scopus 로고
    • Palmoplantar and periorofacial keratoderma with corneal epithelial dysplasia: A new syndrome
    • Judge MR, Misch K, Wright P, Harper JI. Palmoplantar and periorofacial keratoderma with corneal epithelial dysplasia: a new syndrome. Br J Dermatol. 1991;125:186-188.
    • (1991) Br J Dermatol , vol.125 , pp. 186-188
    • Judge, M.R.1    Misch, K.2    Wright, P.3    Harper, J.I.4
  • 92
    • 0021342067 scopus 로고
    • Olmsted syndrome: Congenital palmoplantar keratoderma and periorofacial keratoderma
    • Poulin Y, Perry HO, Muller SA. Olmsted syndrome: congenital palmoplantar keratoderma and periorofacial keratoderma. J Am Acad Dermatol. 1984;10: 600-610.
    • (1984) J Am Acad Dermatol , vol.10 , pp. 600-610
    • Poulin, Y.1    Perry, H.O.2    Muller, S.A.3
  • 93
    • 0015263055 scopus 로고
    • Hiperqueratosis palmo-plantar mutilante con hipotriquia y con lesiones eritematoescamosas inguinales y perianales
    • Ruiz-Maldonado R, Lozano-Ferral N. Hiperqueratosis palmo-plantar mutilante con hipotriquia y con lesiones eritematoescamosas inguinales y perianales. Int J Dermatol. 1972;11:31-35.
    • (1972) Int J Dermatol , vol.11 , pp. 31-35
    • Ruiz-Maldonado, R.1    Lozano-Ferral, N.2
  • 94
    • 0028933496 scopus 로고
    • Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf mutism
    • Peris K, Salvati EF, Torlone G, Chimenti S. Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf mutism. Br J Dermatol. 1995;132:617-620.
    • (1995) Br J Dermatol , vol.132 , pp. 617-620
    • Peris, K.1    Salvati, E.F.2    Torlone, G.3    Chimenti, S.4
  • 95
    • 0013965847 scopus 로고
    • Keratoma hereditaria mutilans (Vohwinkel): Differentiating features of conditions with constriction of digits
    • Gibbs RC, Frank SB. Keratoma hereditaria mutilans (Vohwinkel): differentiating features of conditions with constriction of digits. Arch Dermatol. 1966; 94:619-625.
    • (1966) Arch Dermatol , vol.94 , pp. 619-625
    • Gibbs, R.C.1    Frank, S.B.2
  • 96
    • 15844391073 scopus 로고    scopus 로고
    • A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome
    • Maestrini E, Monaco AP, McGrath JA, et al. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome, Nature Genet. 1996;13:70-77.
    • (1996) Nature Genet , vol.13 , pp. 70-77
    • Maestrini, E.1    Monaco, A.P.2    McGrath, J.A.3
  • 97
    • 0025125350 scopus 로고
    • Hereditary palmoplantar keratosis of the Gamborg Nielsen type
    • Kastl I, Anton-Lamprecht I, Nielsen PG. Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Arch Dermatol Res. 1990;282:363-370.
    • (1990) Arch Dermatol Res , vol.282 , pp. 363-370
    • Kastl, I.1    Anton-Lamprecht, I.2    Nielsen, P.G.3
  • 98
    • 0007517684 scopus 로고
    • Mal de Meleda: Review of the literature and report of four cases
    • Niles HD, Klumpp MM. Mal de Meleda: review of the literature and report of four cases. Arch Dermatol Syphilol. 1939;39:409-421.
    • (1939) Arch Dermatol Syphilol , vol.39 , pp. 409-421
    • Niles, H.D.1    Klumpp, M.M.2
  • 99
    • 0026536824 scopus 로고
    • Mal de Meleda: Recessive transgressive palmoplantar keratoderma with three unusual facultative features
    • Lestringant GG, Hadi SM, Qayed KI, Blayney BJ. Mal de Meleda: recessive transgressive palmoplantar keratoderma with three unusual facultative features. Dermatology. 1992;184:78-82
    • (1992) Dermatology , vol.184 , pp. 78-82
    • Lestringant, G.G.1    Hadi, S.M.2    Qayed, K.I.3    Blayney, B.J.4
  • 101
    • 3142652210 scopus 로고
    • A case of malignant melanoma arising in a brother of hereditary palmoplantar keratoderma
    • Matsuda H, Kawatsu T. A case of malignant melanoma arising in a brother of hereditary palmoplantar keratoderma. Hifukyo Shinryo. 1979;1:531-534.
    • (1979) Hifukyo Shinryo , vol.1 , pp. 531-534
    • Matsuda, H.1    Kawatsu, T.2
  • 102
    • 3142617614 scopus 로고
    • A case of Meleda disease associated with malignant melanoma
    • Shimizu Y, Ohkuni T. A case of Meleda disease associated with malignant melanoma. Hitukyo Zusetsu. 1959;1:13-20.
    • (1959) Hitukyo Zusetsu , vol.1 , pp. 13-20
    • Shimizu, Y.1    Ohkuni, T.2
  • 103
    • 0345671658 scopus 로고
    • Malignant melanoma arising in palmoplantar keratoderma
    • Arisu K, Ogino Y, Suzuki M, et al. Malignant melanoma arising in palmoplantar keratoderma. Skin Cancer. 1991;6:11-15.
    • (1991) Skin Cancer , vol.6 , pp. 11-15
    • Arisu, K.1    Ogino, Y.2    Suzuki, M.3
  • 104
    • 0344377072 scopus 로고
    • Lentigo maligna developing in Meleda-type palmoplantar keratosis
    • Okada T, Kawatsu T, Ukon K. Lentigo maligna developing in Meleda-type palmoplantar keratosis. Nishinihon J Dermatol. 1979;41:249-253.
    • (1979) Nishinihon J Dermatol , vol.41 , pp. 249-253
    • Okada, T.1    Kawatsu, T.2    Ukon, K.3
  • 105
    • 0026084976 scopus 로고
    • Mal de Meleda-like palmo-plantar keratoderma
    • Iio T, Shiraishi S, Sayama K, et al. Mal de Meleda-like palmo-plantar keratoderma. J Dermatol (Tokyo). 1991;18:43-46.
    • (1991) J Dermatol (Tokyo) , vol.18 , pp. 43-46
    • Iio, T.1    Shiraishi, S.2    Sayama, K.3
  • 108
    • 0029143535 scopus 로고
    • Keratoderma with scleroatrophy of the extremities or sclerotylosis (Huriez syndrome): A reappraisal
    • Delaporte E, Nguyen-Mailfer C, Janin A, et al. Keratoderma with scleroatrophy of the extremities or sclerotylosis (Huriez syndrome): a reappraisal Br J Dermatol. 1995;133:409-416.
    • (1995) Br J Dermatol , vol.133 , pp. 409-416
    • Delaporte, E.1    Nguyen-Mailfer, C.2    Janin, A.3
  • 109
    • 0017351122 scopus 로고
    • Hidrotic eciodermal dysplasia with diffuse eccrine poromatosis
    • Wilkinson RD, Schopflocher P, Rozenfeld M. Hidrotic eciodermal dysplasia with diffuse eccrine poromatosis. Arch Dermatol. 1977;113:472-476.
    • (1977) Arch Dermatol , vol.113 , pp. 472-476
    • Wilkinson, R.D.1    Schopflocher, P.2    Rozenfeld, M.3
  • 110
    • 0017334372 scopus 로고
    • Hidrotic ectodermal dysplasia: Study of a large Chinese pedigree
    • Rajagopalan K, Hai Tay C. Hidrotic ectodermal dysplasia: study of a large Chinese pedigree. Arch Dermatol. 1977;113:481-485.
    • (1977) Arch Dermatol , vol.113 , pp. 481-485
    • Rajagopalan, K.1    Hai Tay, C.2
  • 111
    • 0000350367 scopus 로고
    • Congenital deafness associated with onychodystrophy
    • Feinmesser M, Zelig S. Congenital deafness associated with onychodystrophy. Arch Otolaryngol. 1961;74:507-508.
    • (1961) Arch Otolaryngol , vol.74 , pp. 507-508
    • Feinmesser, M.1    Zelig, S.2
  • 112
    • 0344365644 scopus 로고
    • Familial ectodermal dysplasia with sensorineural deafness and other anomalies
    • Robinson GC, Miller JR, Bensimon JR. Familial ectodermal dysplasia with sensorineural deafness and other anomalies. Pediatrics. 1962;30:797-802.
    • (1962) Pediatrics , vol.30 , pp. 797-802
    • Robinson, G.C.1    Miller, J.R.2    Bensimon, J.R.3
  • 113
    • 0015273887 scopus 로고
    • Keratodermia palmaris et plantaris with clubbing and skeletal deformity of the terminal phalanges of the hands and feet
    • Hedstrand H, Berglund G, Werner I. Keratodermia palmaris et plantaris with clubbing and skeletal deformity of the terminal phalanges of the hands and feet. Acta Derm Venereol (Stockh). 1972;52:278-280.
    • (1972) Acta Derm Venereol (Stockh) , vol.52 , pp. 278-280
    • Hedstrand, H.1    Berglund, G.2    Werner, I.3
  • 114
    • 0002921779 scopus 로고
    • Major forms of hereditary ectodermal dysplasia
    • Clouston HR. Major forms of hereditary ectodermal dysplasia. Can Med Assoc J. 1939;40:1-7.
    • (1939) Can Med Assoc J , vol.40 , pp. 1-7
    • Clouston, H.R.1
  • 115
    • 0015337549 scopus 로고
    • Squamous cell carcinoma of nail bed in hereditary ectodermal dysplasia
    • Mauro J, Maslyn R, Stein A. Squamous cell carcinoma of nail bed in hereditary ectodermal dysplasia. N Y State J Med. 1972;1:1065-1066.
    • (1972) N Y State J Med , vol.1 , pp. 1065-1066
    • Mauro, J.1    Maslyn, R.2    Stein, A.3
  • 117
    • 0029881589 scopus 로고    scopus 로고
    • The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q
    • Kibar Z, Der Kaloustian VM, Brais B, et al. The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. Hum Mol Genet. 1996;5:543-547.
    • (1996) Hum Mol Genet , vol.5 , pp. 543-547
    • Kibar, Z.1    Der Kaloustian, V.M.2    Brais, B.3
  • 118
    • 0018758055 scopus 로고
    • Congenital poikiloderma with traumatic bulla formation, anhidrosis, and keratoderma
    • Person JR, Perry HO. Congenital poikiloderma with traumatic bulla formation, anhidrosis, and keratoderma. Acta Derm Venereol (Stockh). 1979;59: 347-351.
    • (1979) Acta Derm Venereol (Stockh) , vol.59 , pp. 347-351
    • Person, J.R.1    Perry, H.O.2
  • 119
    • 0027232939 scopus 로고
    • Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations
    • Itin PH, Lautenschlager S, Meyer R, Mevorah B, Rufli T. Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations. J Am Acad Dermatol. 1993;28:942-950.
    • (1993) J Am Acad Dermatol , vol.28 , pp. 942-950
    • Itin, P.H.1    Lautenschlager, S.2    Meyer, R.3    Mevorah, B.4    Rufli, T.5
  • 122
    • 0026581850 scopus 로고
    • Dermatopathia pigmentosa reticularis: A report of a family demonstrating autosomal dominant inheritance
    • Heimer WL, Brauner G, James WD. Dermatopathia pigmentosa reticularis: a report of a family demonstrating autosomal dominant inheritance. J Am Acad Dermatol. 1992;26:298-301.
    • (1992) J Am Acad Dermatol , vol.26 , pp. 298-301
    • Heimer, W.L.1    Brauner, G.2    James, W.D.3
  • 125
    • 0022483542 scopus 로고
    • Cardiac abnormalities in familial palmoplantar keratosis
    • Protonotarios N, Tsatsopoulou A, Patsourakos P, et al. Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J. 1986;56:321-326.
    • (1986) Br Heart J , vol.56 , pp. 321-326
    • Protonotarios, N.1    Tsatsopoulou, A.2    Patsourakos, P.3
  • 126
    • 0023359292 scopus 로고
    • Palmoplantar keratoderma, deafness and atopy
    • Verbov J. Palmoplantar keratoderma, deafness and atopy. Br J Dermatol. 1987; 116:881-882.
    • (1987) Br J Dermatol , vol.116 , pp. 881-882
    • Verbov, J.1
  • 128
    • 0026584664 scopus 로고
    • Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations
    • Sharland M, Bleach NR, Goberdhan PD, Patton MA. Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations. J Med Genet. 1992;29:50-52.
    • (1992) J Med Genet , vol.29 , pp. 50-52
    • Sharland, M.1    Bleach, N.R.2    Goberdhan, P.D.3    Patton, M.A.4
  • 129
    • 0028058126 scopus 로고
    • Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: An additional family with Bart-Pumphrey syndrome
    • Ramer JC, Vasily OB, Ladda RL. Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome. J Med Genet. 1994;31:68-71.
    • (1994) J Med Genet , vol.31 , pp. 68-71
    • Ramer, J.C.1    Vasily, O.B.2    Ladda, R.L.3
  • 130
    • 25744453289 scopus 로고
    • Molecular and clinical heterogeneity in palmoplantar keratoderma (PPK)
    • RHennies HC, Küster W, Mischke D, et al. Molecular and clinical heterogeneity in palmoplantar keratoderma (PPK). Am J Hum Genet. 1994;55(suppl):A223.
    • (1994) Am J Hum Genet , vol.55 , Issue.SUPPL.
    • Rhennies, H.C.1    Küster, W.2    Mischke, D.3
  • 131
    • 0025737124 scopus 로고
    • Keratitis, hepatitis, ichthyosis, and deafness: Report and review of KID syndrome
    • Wilson GN, Squires RHJ, Weinberg AG. Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome. Am J Med Genet. 1991;40: 255-259.
    • (1991) Am J Med Genet , vol.40 , pp. 255-259
    • Wilson, G.N.1    Squires, R.H.J.2    Weinberg, A.G.3
  • 132
    • 0025033635 scopus 로고
    • Familial occurrence of KID (keratitis, ichthyosis, deafness) syndrome: Case reports of a mother and daughter
    • Nazzaro V, Blanchet-Bardon C, Lorette G, Civatte J. Familial occurrence of KID (keratitis, ichthyosis, deafness) syndrome: case reports of a mother and daughter. J Am Acad Dermatol. 1990;23:385-388.
    • (1990) J Am Acad Dermatol , vol.23 , pp. 385-388
    • Nazzaro, V.1    Blanchet-Bardon, C.2    Lorette, G.3    Civatte, J.4
  • 133
    • 84943429907 scopus 로고
    • Keratitis, ichthyosis, and deafness (KID) syndrome: Vertical transmission and death from multiple squamous cell carcinomas
    • Grob JJ, Breton A, Bonafe JL, Sauvan-Ferdani M, Bonerandi JJ. Keratitis, ichthyosis, and deafness (KID) syndrome: vertical transmission and death from multiple squamous cell carcinomas. Arch Dermatol. 1987;123:777-782.
    • (1987) Arch Dermatol , vol.123 , pp. 777-782
    • Grob, J.J.1    Breton, A.2    Bonafe, J.L.3    Sauvan-Ferdani, M.4    Bonerandi, J.J.5
  • 134
    • 0021843989 scopus 로고
    • Keratitis, ichthyosis, and deafness syndrome with glycogen storage
    • Jurecka W, Aberer E, Mainitz M, Jurgensen O. Keratitis, ichthyosis, and deafness syndrome with glycogen storage. Arch Dermatol. 1985;121:799-801.
    • (1985) Arch Dermatol , vol.121 , pp. 799-801
    • Jurecka, W.1    Aberer, E.2    Mainitz, M.3    Jurgensen, O.4
  • 135
    • 0021348130 scopus 로고
    • Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: A new autosomal dominant syndrome
    • Stern JK, Lubinsky MS, Durrie DS, Luckasen JR. Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: a new autosomal dominant syndrome. Am J Med Genet. 1984;18:67-77.
    • (1984) Am J Med Genet , vol.18 , pp. 67-77
    • Stern, J.K.1    Lubinsky, M.S.2    Durrie, D.S.3    Luckasen, J.R.4
  • 136
    • 0014831130 scopus 로고
    • Circumscribed palmoplantar keratoderma
    • Callan NJ. Circumscribed palmoplantar keratoderma. Aust J Dermatol. 1970; 11:76-81.
    • (1970) Aust J Dermatol , vol.11 , pp. 76-81
    • Callan, N.J.1
  • 137
    • 0020535378 scopus 로고
    • Four brothers with mental retardation, spastic paraplegia and palmoplantar hyperkeratosis: A new syndrome?
    • Fitzsimmons JS, Fitzsimmons EM, McLachlan JI, Gilbert GB. Four brothers with mental retardation, spastic paraplegia and palmoplantar hyperkeratosis: a new syndrome? Clin Genet. 1983;23:329-335.
    • (1983) Clin Genet , vol.23 , pp. 329-335
    • Fitzsimmons, J.S.1    Fitzsimmons, E.M.2    McLachlan, J.I.3    Gilbert, G.B.4
  • 139
    • 0023691382 scopus 로고
    • Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: An autosomal dominant trait
    • Tolmie JL, Wilcox DE, McWilliam R, Assindi A, Stephenson JBP. Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait. J Med Genet. 1988;25:754-757.
    • (1988) J Med Genet , vol.25 , pp. 754-757
    • Tolmie, J.L.1    Wilcox, D.E.2    McWilliam, R.3    Assindi, A.4    Stephenson, J.B.P.5
  • 140
  • 141
    • 0007627313 scopus 로고
    • Multiple eyelid hidrocystoma syndrome: A new cancer syndrome?
    • Wilkinson DS, Mascaró JM, Orfanos CE, Albers J, eds. Stuttgart, Germany: Schattauer;
    • Happle R, Rampen FHJ. Multiple eyelid hidrocystoma syndrome: a new cancer syndrome? In: Wilkinson DS, Mascaró JM, Orfanos CE, Albers J, eds. Clinical Dermatology: The CMD Case Collection. Stuttgart, Germany: Schattauer; 1987:290-291.
    • (1987) Clinical Dermatology: The CMD Case Collection , pp. 290-291
    • Happle, R.1    Rampen, F.H.J.2
  • 142
    • 0008150013 scopus 로고
    • Schöpf syndrome
    • Perret C. Schöpf syndrome. Br J Dermatol. 1989;120:131-132.
    • (1989) Br J Dermatol , vol.120 , pp. 131-132
    • Perret, C.1
  • 143
    • 0023685640 scopus 로고
    • A familial occurrence of eccrine tumours in a family with ectodermal dysplasia
    • Nordin H, Månsson T, Svensson A. A familial occurrence of eccrine tumours in a family with ectodermal dysplasia. Acta Derm Venereol (Stockh). 1988; 68:523-530.
    • (1988) Acta Derm Venereol (Stockh) , vol.68 , pp. 523-530
    • Nordin, H.1    Månsson, T.2    Svensson, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.