메뉴 건너뛰기




Volumn 53, Issue 5 SUPPL., 2005, Pages

Association of palmoplantar keratoderma, cutaneous squamous cell carcinoma, dental anomalies, and hypogenitalism in four siblings with 46,XX karyotype: A new syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CELL HYPERPLASIA; CHROMOSOME ANALYSIS; CONSANGUINEOUS MARRIAGE; CONSANGUINITY; CYTOGENETICS; DISEASE ASSOCIATION; FAMILY HISTORY; GENETIC LINKAGE; GYNECOMASTIA; HISTOLOGY; HUMAN; HYPOGONADISM; HYPOSPADIAS; KARYOTYPE 46,XX; KERATOSIS PALMOPLANTARIS; LARYNX CARCINOMA; LEYDIG CELL; MALE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SKIN CARCINOMA; SQUAMOUS CELL CARCINOMA; TOOTH MALFORMATION;

EID: 26644461194     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2005.02.033     Document Type: Article
Times cited : (26)

References (37)
  • 1
    • 0014542870 scopus 로고
    • Tylosis palmaris et plantaris. Its occurrence with internal malignancy
    • D.D. Parnell, and S.A.M. Johnson Tylosis palmaris et plantaris. Its occurrence with internal malignancy Arch Dermatol 100 1969 7 9
    • (1969) Arch Dermatol , vol.100 , pp. 7-9
    • Parnell, D.D.1    Johnson, S.A.M.2
  • 2
    • 78651056572 scopus 로고
    • Carcinoma of the oesophagus with keratosis palmaris et plantaris (tylosis): A study of two families
    • W. Howel-Evans, R.B. McConnell, C.A. Clarke, and P.M. Sheppard Carcinoma of the oesophagus with keratosis palmaris et plantaris (tylosis): a study of two families Q J Med 27 1958 413 430
    • (1958) Q J Med , vol.27 , pp. 413-430
    • Howel-Evans, W.1    McConnell, R.B.2    Clarke, C.A.3    Sheppard, P.M.4
  • 3
    • 0038715650 scopus 로고    scopus 로고
    • Lung carcinoma with congenital plantar keratoderma as a variant of Clarke-Howel-Evans syndrome
    • J.U. Grundmann, E. Weisshaar, I. Franke, B. Bonnekoh, and H. Gollnick Lung carcinoma with congenital plantar keratoderma as a variant of Clarke-Howel-Evans syndrome Int J Dermatol 42 2003 461 463
    • (2003) Int J Dermatol , vol.42 , pp. 461-463
    • Grundmann, J.U.1    Weisshaar, E.2    Franke, I.3    Bonnekoh, B.4    Gollnick, H.5
  • 4
    • 2942729612 scopus 로고    scopus 로고
    • Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: Sequencing does not identify the causative gene
    • J.E. Langan, C.G. Cole, E.J. Huckle, S. Byrne, F.E. McRonald, and L. Rowbottom Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene Hum Genet 114 2004 534 540
    • (2004) Hum Genet , vol.114 , pp. 534-540
    • Langan, J.E.1    Cole, C.G.2    Huckle, E.J.3    Byrne, S.4    McRonald, F.E.5    Rowbottom, L.6
  • 5
    • 0018830137 scopus 로고
    • Genetic tylosis with malignancy: A study of a South Indian pedigree
    • P. Yesudian, S. Premalatha, and A.S. Thambiah Genetic tylosis with malignancy: a study of a South Indian pedigree Br J Dermatol 102 1980 597 599
    • (1980) Br J Dermatol , vol.102 , pp. 597-599
    • Yesudian, P.1    Premalatha, S.2    Thambiah, A.S.3
  • 6
    • 0028077773 scopus 로고
    • Verrucous carcinoma in Unna-Thost hyperkeratosis of the palms and soles
    • T.T. Rogozinski, R.A. Schwartz, and E. Towpik Verrucous carcinoma in Unna-Thost hyperkeratosis of the palms and soles J Am Acad Dermatol 31 1994 1061 1062
    • (1994) J Am Acad Dermatol , vol.31 , pp. 1061-1062
    • Rogozinski, T.T.1    Schwartz, R.A.2    Towpik, E.3
  • 7
    • 0020722623 scopus 로고
    • Wspolistnienie dwu zespolow paraneoplastycznych-acrokeratosis Bazex oraz zespolu Lesera-Trelata-w przypadku raka plaskonablonkowego krtani
    • J. Rubisz-Brzezinska, T. Zebracka, and D. Musialowicz Wspolistnienie dwu zespolow paraneoplastycznych-acrokeratosis Bazex oraz zespolu Lesera-Trelata-w przypadku raka plaskonablonkowego krtani Przeg Dermatol 70 1983 205 208
    • (1983) Przeg Dermatol , vol.70 , pp. 205-208
    • Rubisz-Brzezinska, J.1    Zebracka, T.2    Musialowicz, D.3
  • 8
    • 0023950233 scopus 로고
    • Cowden's disease: A marker of internal malignancy
    • S.D. Shapiro, R.A. Schwartz, and W.C. Lambert Cowden's disease: a marker of internal malignancy Int J Dermatol 27 1988 232 237
    • (1988) Int J Dermatol , vol.27 , pp. 232-237
    • Shapiro, S.D.1    Schwartz, R.A.2    Lambert, W.C.3
  • 9
    • 26644455604 scopus 로고    scopus 로고
    • McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, Md) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, Md)
    • Online Mendelian Inheritancein Man, OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, Md) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, Md), 2000. Available at: http://www.ncbi.nlm.nih.gov/omim/.
    • (2000)
  • 10
    • 0030859834 scopus 로고    scopus 로고
    • The inherited palmoplantar keratodermas
    • R.C. Ratnavel, and W.A.D. Griffiths The inherited palmoplantar keratodermas Br J Dermatol 137 1997 485 490
    • (1997) Br J Dermatol , vol.137 , pp. 485-490
    • Ratnavel, R.C.1    Griffiths, W.A.D.2
  • 13
    • 0018244103 scopus 로고
    • La génodermatose scléro-atrophiante et ké ratodermique des extrémités (au sujet de trois nouveaux cas familiaux)
    • S. Fisher La génodermatose scléro-atrophiante et kératodermique des extrémités (au sujet de trois nouveaux cas familiaux) Ann Dermatol Venereol 105 1978 1079 1082
    • (1978) Ann Dermatol Venereol , vol.105 , pp. 1079-1082
    • Fisher, S.1
  • 14
    • 0017543794 scopus 로고
    • La génodermatose scléro-atrophiante et ké ratodermique des extrémités
    • D. Lambert, H. Planche, and J.-L. Chapuis La génodermatose scléro-atrophiante et kératodermique des extrémités Ann Derm Venereol 104 1977 654 657
    • (1977) Ann Derm Venereol , vol.104 , pp. 654-657
    • Lambert, D.1    Planche, H.2    Chapuis, J.-L.3
  • 15
    • 0028024565 scopus 로고
    • The hereditary palmoplantar keratoses: An updated review and classification
    • G.P.H. Lucker, P.C.M. Van de Kerkhof, and P.M. Steijlen The hereditary palmoplantar keratoses: an updated review and classification Br J Dermatol 131 1994 1 14
    • (1994) Br J Dermatol , vol.131 , pp. 1-14
    • Lucker, G.P.H.1    Van De Kerkhof, P.C.M.2    Steijlen, P.M.3
  • 17
    • 0028584283 scopus 로고
    • What syndrome is this? Papillon-Lefevre syndrome
    • G. Micali, R. Bhatt, and L.M. Solomon What syndrome is this? Papillon-Lefevre syndrome Pediatr Dermatol 11 1994 354 357
    • (1994) Pediatr Dermatol , vol.11 , pp. 354-357
    • Micali, G.1    Bhatt, R.2    Solomon, L.M.3
  • 18
    • 0033925644 scopus 로고    scopus 로고
    • A gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez syndrome) maps to chromosome 4q23
    • Y.A. Lee, H.P. Stevens, E. Delaporte, U. Wahn, and A. Reis A gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez syndrome) maps to chromosome 4q23 Am J Hum Genet 66 2000 326 330
    • (2000) Am J Hum Genet , vol.66 , pp. 326-330
    • Lee, Y.A.1    Stevens, H.P.2    Delaporte, E.3    Wahn, U.4    Reis, A.5
  • 20
    • 0035788876 scopus 로고    scopus 로고
    • A further case of plantar squamous cell carcinoma arising in Olmsted syndrome
    • Y. Yoshizaki, H. Kanki, T. Ueda, M. Ichihashi, and M. Ueda A further case of plantar squamous cell carcinoma arising in Olmsted syndrome Br J Dermatol 145 2001 685 686
    • (2001) Br J Dermatol , vol.145 , pp. 685-686
    • Yoshizaki, Y.1    Kanki, H.2    Ueda, T.3    Ichihashi, M.4    Ueda, M.5
  • 21
    • 0002704375 scopus 로고
    • Deux cas de keratodermie palmaris et plantaire symetrique familiale (Mal de Meleda) chez le frere et la soer. Coexistance dans le deux cas d'alterations dentaires graves
    • M.M. Papillon, and P. Lefèvre Deux cas de keratodermie palmaris et plantaire symetrique familiale (Mal de Meleda) chez le frere et la soer. Coexistance dans le deux cas d'alterations dentaires graves Soc Fr Dermatol Syph 31 1924 82
    • (1924) Soc Fr Dermatol Syph , vol.31 , pp. 82
    • Papillon, M.M.1    Lefèvre, P.2
  • 22
    • 0002360441 scopus 로고
    • Keratosis palmo-plantaris congenita, with periodontosis, arachnodactyly and peculiar deformity of the terminal phalanges
    • S. Haim, and J. Munk Keratosis palmo-plantaris congenita, with periodontosis, arachnodactyly and peculiar deformity of the terminal phalanges Br J Dermatol 77 1965 42
    • (1965) Br J Dermatol , vol.77 , pp. 42
    • Haim, S.1    Munk, J.2
  • 23
    • 0034056862 scopus 로고    scopus 로고
    • Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C
    • T.C. Hart, P.S. Hart, M.D. Michalec, Y. Zhang, E. Firatli, and T.E. Van Dyke Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C J Med Genet 37 2000 88 94
    • (2000) J Med Genet , vol.37 , pp. 88-94
    • Hart, T.C.1    Hart, P.S.2    Michalec, M.D.3    Zhang, Y.4    Firatli, E.5    Van Dyke, T.E.6
  • 24
    • 0031433108 scopus 로고    scopus 로고
    • Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping
    • M.W. Laass, H.C. Hennies, S. Preis, H.P. Stevens, M. Jung, and I.M. Leigh Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping Hum Genet 101 1997 376 382
    • (1997) Hum Genet , vol.101 , pp. 376-382
    • Laass, M.W.1    Hennies, H.C.2    Preis, S.3    Stevens, H.P.4    Jung, M.5    Leigh, I.M.6
  • 26
    • 0016421602 scopus 로고
    • Papillomatose Form der palmo-plantaren Keratodermie kombiniert mit anderen Anomalien der Verhornung sowie dysplastichen Zahnveranderungen
    • D. Jakac, and A. Wolf Papillomatose Form der palmo-plantaren Keratodermie kombiniert mit anderen Anomalien der Verhornung sowie dysplastichen Zahnveranderungen Hautarzt 26 1975 25 29
    • (1975) Hautarzt , vol.26 , pp. 25-29
    • Jakac, D.1    Wolf, A.2
  • 28
    • 0029878158 scopus 로고    scopus 로고
    • The scleroatrophic syndrome of Huriez: A cancer-prone genodermatosis
    • H. Hamm, H. Traupe, E.B. Brocker, H. Schubert, and G. Kolde The scleroatrophic syndrome of Huriez: a cancer-prone genodermatosis Br J Dermatol 134 1996 512 518
    • (1996) Br J Dermatol , vol.134 , pp. 512-518
    • Hamm, H.1    Traupe, H.2    Brocker, E.B.3    Schubert, H.4    Kolde, G.5
  • 31
    • 0004062125 scopus 로고
    • Blackwell Scientific Publications Cambridge (UK)
    • M.L. Buyse Birth defects encyclopedia 1990 Blackwell Scientific Publications Cambridge (UK)
    • (1990) Birth Defects Encyclopedia
    • Buyse, M.L.1
  • 32
    • 0025186924 scopus 로고
    • Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination
    • M.A. Ferguson-Smith, A. Cooke, N.A. Affara, E. Boyd, and J.L. Tolmie Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination Hum Genet 84 1990 198 202
    • (1990) Hum Genet , vol.84 , pp. 198-202
    • Ferguson-Smith, M.A.1    Cooke, A.2    Affara, N.A.3    Boyd, E.4    Tolmie, J.L.5
  • 34
    • 0344043347 scopus 로고    scopus 로고
    • Mammalian sex determination: Joining pieces of the genetic puzzle
    • F. Jemenez, and M. Burgos Mammalian sex determination: joining pieces of the genetic puzzle Bioessay 20 1998 696 699
    • (1998) Bioessay , vol.20 , pp. 696-699
    • Jemenez, F.1    Burgos, M.2
  • 35
    • 0033662409 scopus 로고    scopus 로고
    • A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse
    • C.E. Bishop, D.J. Whitworth, Y. Qin, A.I. Agoulnik, I.U. Agoulnik, and W.R. Harrison A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse Nat Genet 26 2000 490 494
    • (2000) Nat Genet , vol.26 , pp. 490-494
    • Bishop, C.E.1    Whitworth, D.J.2    Qin, Y.3    Agoulnik, A.I.4    Agoulnik, I.U.5    Harrison, W.R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.