메뉴 건너뛰기




Volumn 15, Issue 9, 2006, Pages 653-666

Cancer-associated genodermatoses: A personal history

Author keywords

Basal cell nevus syndrome; Birt Hogg Dub syndrome; Cancer associated genodermatoses; Carney complex; Cowden syndrome; Muir Torre syndrome

Indexed keywords

ESTRONE; MISMATCH REPAIR PROTEIN PMS2; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN KINASE; PROTEIN MLH1; PROTEIN PATCHED; RETINOBLASTOMA PROTEIN; SONIC HEDGEHOG PROTEIN; VIRUS DNA;

EID: 33746586248     PISSN: 09066705     EISSN: 16000625     Source Type: Journal    
DOI: 10.1111/j.1600-0625.2006.00463.x     Document Type: Review
Times cited : (11)

References (93)
  • 1
    • 74549208765 scopus 로고
    • Heredity with reference to carcinoma
    • Warthin A S. Heredity with reference to carcinoma. Arch Intern Med 1913: 12: 546-555.
    • (1913) Arch Intern Med , vol.12 , pp. 546-555
    • Warthin, A.S.1
  • 2
    • 0027051636 scopus 로고
    • Multiple cutaneous tumors: What do they mean?
    • Burgdorf W H, Koester G. Multiple cutaneous tumors: What do they mean? J Cutan Pathol 1992: 19: 449-457.
    • (1992) J Cutan Pathol , vol.19 , pp. 449-457
    • Burgdorf, W.H.1    Koester, G.2
  • 3
    • 72849181879 scopus 로고
    • Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome
    • Gorlin R J, Goltz R W. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. N Engl J Med 1960: 262: 908-912.
    • (1960) N Engl J Med , vol.262 , pp. 908-912
    • Gorlin, R.J.1    Goltz, R.W.2
  • 4
    • 15844381336 scopus 로고    scopus 로고
    • Human homolog of patched, a candidate gene for the basal cell nevus syndrome
    • Johnson R L, Rothman A L, Xie J et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 1996: 272: 1668-1671.
    • (1996) Science , vol.272 , pp. 1668-1671
    • Johnson, R.L.1    Rothman, A.L.2    Xie, J.3
  • 5
    • 0011102935 scopus 로고    scopus 로고
    • The tumour-suppressor gene patched encodes a candidate receptor for sonic hedgehog
    • Stone D M, Hynes M, Armanini M et al. The tumour-suppressor gene patched encodes a candidate receptor for sonic hedgehog. Nature 1996: 384: 129-134.
    • (1996) Nature , vol.384 , pp. 129-134
    • Stone, D.M.1    Hynes, M.2    Armanini, M.3
  • 6
    • 19944433687 scopus 로고    scopus 로고
    • Somatic mutations in the PTCH, SMOH, SUFUH and TP53 genes in sporadic basal cell carcinomas
    • Reifenberger J, Wolter M, Knobbe C B et al. Somatic mutations in the PTCH, SMOH, SUFUH and TP53 genes in sporadic basal cell carcinomas. Br J Dermatol 2005: 152: 43-51.
    • (2005) Br J Dermatol , vol.152 , pp. 43-51
    • Reifenberger, J.1    Wolter, M.2    Knobbe, C.B.3
  • 7
    • 0142153787 scopus 로고    scopus 로고
    • The hedgehog signaling network
    • Cohen M M Jr. The hedgehog signaling network. Am J Med Genet A 2003: 123: 5-28.
    • (2003) Am J Med Genet A , vol.123 , pp. 5-28
    • Cohen Jr., M.M.1
  • 8
    • 0035902140 scopus 로고    scopus 로고
    • The hedgehog and Wnt signalling pathways in cancer
    • Taipale J, Beachy P A. The hedgehog and Wnt signalling pathways in cancer. Nature 2001: 411: 349-354.
    • (2001) Nature , vol.411 , pp. 349-354
    • Taipale, J.1    Beachy, P.A.2
  • 9
    • 0032694528 scopus 로고    scopus 로고
    • Ultraviolet and ionizing radiation enhance the growth of BCCs and trichoblastomas in patched heterozygous knockout mice
    • Aszterbaum M, Epstein J, Oro A et al. Ultraviolet and ionizing radiation enhance the growth of BCCs and trichoblastomas in patched heterozygous knockout mice. Nat Med 1999: 5: 1285-1291.
    • (1999) Nat Med , vol.5 , pp. 1285-1291
    • Aszterbaum, M.1    Epstein, J.2    Oro, A.3
  • 10
    • 0023597947 scopus 로고
    • Basal cell carcinoma with follicular differentiation
    • Tozawa T, Ackerman A B. Basal cell carcinoma with follicular differentiation. Am J Dermatopathol 1987: 9: 474-482.
    • (1987) Am J Dermatopathol , vol.9 , pp. 474-482
    • Tozawa, T.1    Ackerman, A.B.2
  • 11
    • 0025484649 scopus 로고
    • Infundibulocystic basal cell carcinoma: A newly described variant
    • Walsh N, Ackerman A B. Infundibulocystic basal cell carcinoma: A newly described variant. Mod Pathol 1990: 3: 599-608.
    • (1990) Mod Pathol , vol.3 , pp. 599-608
    • Walsh, N.1    Ackerman, A.B.2
  • 12
    • 0345329611 scopus 로고    scopus 로고
    • Multiple hereditary infundibulocystic basal cell carcinomas: A genodermatosis different from nevoid basal cell carcinoma syndrome
    • Requena L, Farina M C, Robledo M et al. Multiple hereditary infundibulocystic basal cell carcinomas: A genodermatosis different from nevoid basal cell carcinoma syndrome. Arch Dermatol 1999: 135: 1227-1235.
    • (1999) Arch Dermatol , vol.135 , pp. 1227-1235
    • Requena, L.1    Farina, M.C.2    Robledo, M.3
  • 13
    • 0023222358 scopus 로고
    • Nevoid basal-cell carcinoma syndrome
    • Gorlin R J. Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore) 1987: 66: 98-113.
    • (1987) Medicine (Baltimore) , vol.66 , pp. 98-113
    • Gorlin, R.J.1
  • 15
    • 26644442940 scopus 로고    scopus 로고
    • Meningiomas after medulloblastoma irradiation treatment in a patient with basal cell nevus syndrome
    • Campbell R M, Mader R D, Dufresne R G Jr. Meningiomas after medulloblastoma irradiation treatment in a patient with basal cell nevus syndrome. J Am Acad Dermatol 2005: 53: S256-S259.
    • (2005) J Am Acad Dermatol , vol.53
    • Campbell, R.M.1    Mader, R.D.2    Dufresne Jr., R.G.3
  • 16
  • 17
    • 0014358038 scopus 로고
    • Multiple sebaceous tumors
    • Torre D. Multiple sebaceous tumors. Arch Dermatol 1968: 98: 549-551.
    • (1968) Arch Dermatol , vol.98 , pp. 549-551
    • Torre, D.1
  • 18
    • 0014061877 scopus 로고
    • Multiple primary carcinomata of the colon, duodenum, and larynx associated with kerato-acanthomata of the face
    • Muir E G, Bell A J, Barlow K A. Multiple primary carcinomata of the colon, duodenum, and larynx associated with kerato-acanthomata of the face. Br J Surg 1967: 54: 191-195.
    • (1967) Br J Surg , vol.54 , pp. 191-195
    • Muir, E.G.1    Bell, A.J.2    Barlow, K.A.3
  • 19
    • 0015760696 scopus 로고
    • Multiple sebaceous neoplasms of the skin: An association with multiple visceral carcinomas, especially of the colon
    • Rulon D B, Helwig E B. Multiple sebaceous neoplasms of the skin: An association with multiple visceral carcinomas, especially of the colon. Am J Clin Pathol 1973: 60: 745-752.
    • (1973) Am J Clin Pathol , vol.60 , pp. 745-752
    • Rulon, D.B.1    Helwig, E.B.2
  • 20
    • 0020085480 scopus 로고
    • Muir-Torre syndrome: Report of a case and reevaluation of the dermatopathologic features
    • Fahmy A, Burgdorf W H, Schosser R H et al. Muir-Torre syndrome: Report of a case and reevaluation of the dermatopathologic features. Cancer 1982: 49: 1898-1903.
    • (1982) Cancer , vol.49 , pp. 1898-1903
    • Fahmy, A.1    Burgdorf, W.H.2    Schosser, R.H.3
  • 21
    • 0019823819 scopus 로고
    • Torre-Muir syndrome. Sebaceous gland neoplasms, keratoacanthomas, multiple internal cancers and heredity
    • Worret W I, Burgdorf W H, Fahmy A et al. Torre-Muir syndrome. Sebaceous gland neoplasms, keratoacanthomas, multiple internal cancers and heredity. Hautarzt 1981: 32: 519-524.
    • (1981) Hautarzt , vol.32 , pp. 519-524
    • Worret, W.I.1    Burgdorf, W.H.2    Fahmy, A.3
  • 22
    • 33746650103 scopus 로고
    • Dermatopathologic aspects of cancer-associated genodermatoses
    • In: Lynch H T, Fusaro R M, eds. New York: Van Nostrand
    • Burgdorf W. Dermatopathologic aspects of cancer-associated genodermatoses. In: Lynch H T, Fusaro R M, eds. Cancer-associated Genodermatoses. New York: Van Nostrand, 1982: 145-170.
    • (1982) Cancer-associated Genodermatoses , pp. 145-170
    • Burgdorf, W.1
  • 23
    • 0021995747 scopus 로고
    • Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II). I. Clinical description of resource
    • Lynch H T, Kimberling W, Albano W A et al. Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II). I. Clinical description of resource. Cancer 1985: 56: 934-938.
    • (1985) Cancer , vol.56 , pp. 934-938
    • Lynch, H.T.1    Kimberling, W.2    Albano, W.A.3
  • 24
    • 0025915010 scopus 로고
    • Hereditary nonpolyposis colorectal cancer (Lynch syndromes I & II). Genetics, pathology, natural history, and cancer control, Part I
    • Lynch H T, Lanspa S, Smyrk T et al. Hereditary nonpolyposis colorectal cancer (Lynch syndromes I & II). Genetics, pathology, natural history, and cancer control, Part I. Cancer Genet Cytogenet 1991: 53: 143-160.
    • (1991) Cancer Genet Cytogenet , vol.53 , pp. 143-160
    • Lynch, H.T.1    Lanspa, S.2    Smyrk, T.3
  • 26
    • 0015077284 scopus 로고
    • Cancer family "G" revisited: 1895-1970
    • Lynch H T, Krush A J. Cancer family "G" revisited: 1895-1970. Cancer 1971: 27: 1505-1511.
    • (1971) Cancer , vol.27 , pp. 1505-1511
    • Lynch, H.T.1    Krush, A.J.2
  • 27
    • 0019515269 scopus 로고
    • The cancer family syndrome. Rare cutaneous phenotypic linkage of Torre's syndrome
    • Lynch H T, Lynch P M, Pester J et al. The cancer family syndrome. Rare cutaneous phenotypic linkage of Torre's syndrome. Arch Intern Med 1981: 141: 607-611.
    • (1981) Arch Intern Med , vol.141 , pp. 607-611
    • Lynch, H.T.1    Lynch, P.M.2    Pester, J.3
  • 28
    • 0022006650 scopus 로고
    • Muir-Torre syndrome in several members of a family with a variant of the cancer family syndrome
    • Lynch H T, Fusaro R M, Roberts L et al. Muir-Torre syndrome in several members of a family with a variant of the cancer family syndrome. Br J Dermatol 1985: 113: 295-301.
    • (1985) Br J Dermatol , vol.113 , pp. 295-301
    • Lynch, H.T.1    Fusaro, R.M.2    Roberts, L.3
  • 29
    • 0027742295 scopus 로고
    • The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
    • Fishel R, Lescoe M K, Rao M R et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993: 75: 1027-1038.
    • (1993) Cell , vol.75 , pp. 1027-1038
    • Fishel, R.1    Lescoe, M.K.2    Rao, M.R.3
  • 30
    • 0028350601 scopus 로고
    • Mutation of a mutL homolog in hereditary colon cancer
    • Papadopoulos N, Nicolaides N C, Wei Y F et al. Mutation of a mutL homolog in hereditary colon cancer. Science 1994: 263: 1625-1629.
    • (1994) Science , vol.263 , pp. 1625-1629
    • Papadopoulos, N.1    Nicolaides, N.C.2    Wei, Y.F.3
  • 31
    • 10744233937 scopus 로고    scopus 로고
    • Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
    • Umar A, Boland C R, Terdiman J P et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004: 96: 261-268.
    • (2004) J Natl Cancer Inst , vol.96 , pp. 261-268
    • Umar, A.1    Boland, C.R.2    Terdiman, J.P.3
  • 32
    • 0030835296 scopus 로고    scopus 로고
    • Hereditary non-polyposis colorectal cancer: Clinical features and survival. Results from the Danish HNPCC register
    • Myrhoj T, Bisgaard M L, Bernstein I et al. Hereditary non-polyposis colorectal cancer: Clinical features and survival. Results from the Danish HNPCC register. Scand J Gastroenterol 1997: 32: 572-576.
    • (1997) Scand J Gastroenterol , vol.32 , pp. 572-576
    • Myrhoj, T.1    Bisgaard, M.L.2    Bernstein, I.3
  • 33
    • 0022912584 scopus 로고
    • Muir-Torre syndrome. Histologic spectrum of sebaceous proliferations
    • Burgdorf W H, Pitha J, Fahmy A. Muir-Torre syndrome. Histologic spectrum of sebaceous proliferations. Am J Dermatopathol 1986: 8: 202-208.
    • (1986) Am J Dermatopathol , vol.8 , pp. 202-208
    • Burgdorf, W.H.1    Pitha, J.2    Fahmy, A.3
  • 34
    • 1642633537 scopus 로고    scopus 로고
    • Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria
    • Kruse R, Rutten A, Lamberti C et al. Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria. Am J Hum Genet 1998: 63: 63-70.
    • (1998) Am J Hum Genet , vol.63 , pp. 63-70
    • Kruse, R.1    Rutten, A.2    Lamberti, C.3
  • 35
    • 10544255347 scopus 로고    scopus 로고
    • Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene?
    • Kruse R, Lamberti C, Wang Y et al. Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene? Hum Genet 1996: 98: 747-750.
    • (1996) Hum Genet , vol.98 , pp. 747-750
    • Kruse, R.1    Lamberti, C.2    Wang, Y.3
  • 36
    • 0038636399 scopus 로고    scopus 로고
    • Frequency of microsatellite instability in unselected sebaceous gland neoplasias and hyperplasias
    • Kruse R, Rutten A, Schweiger N et al. Frequency of microsatellite instability in unselected sebaceous gland neoplasias and hyperplasias. J Invest Dermatol 2003: 120: 858-864.
    • (2003) J Invest Dermatol , vol.120 , pp. 858-864
    • Kruse, R.1    Rutten, A.2    Schweiger, N.3
  • 37
    • 0035092034 scopus 로고    scopus 로고
    • "Second hit" in sebaceous tumors from Muir-Torre patients with germline mutations in MSH2: Allele loss is not the preferred mode of inactivation
    • Kruse R, Rutten A, Hosseiny-Malayeri H R et al. "Second hit" in sebaceous tumors from Muir-Torre patients with germline mutations in MSH2: Allele loss is not the preferred mode of inactivation. J Invest Dermatol 2001: 116: 463-465.
    • (2001) J Invest Dermatol , vol.116 , pp. 463-465
    • Kruse, R.1    Rutten, A.2    Hosseiny-Malayeri, H.R.3
  • 38
    • 0344069686 scopus 로고    scopus 로고
    • Cystic sebaceous tumors as marker lesions for the Muir-Torre syndrome: A histopathologic and molecular genetic study
    • Rutten A, Burgdorf W, Hugel H et al. Cystic sebaceous tumors as marker lesions for the Muir-Torre syndrome: A histopathologic and molecular genetic study. Am J Dermatopathol 1999: 21: 405-413.
    • (1999) Am J Dermatopathol , vol.21 , pp. 405-413
    • Rutten, A.1    Burgdorf, W.2    Hugel, H.3
  • 39
    • 0032948816 scopus 로고    scopus 로고
    • A novel germline mutation in the hMLH1 DNA mismatch repair gene in a patient with an isolated cystic sebaceous tumor
    • Kruse R, Rutten A, Malayeri H R et al. A novel germline mutation in the hMLH1 DNA mismatch repair gene in a patient with an isolated cystic sebaceous tumor. J Invest Dermatol 1999: 112: 117-118.
    • (1999) J Invest Dermatol , vol.112 , pp. 117-118
    • Kruse, R.1    Rutten, A.2    Malayeri, H.R.3
  • 40
    • 0036187460 scopus 로고    scopus 로고
    • Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: Establishment of immunohistochemical analysis as a screening test
    • Mathiak M, Rutten A, Mangold E et al. Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: Establishment of immunohistochemical analysis as a screening test. Am J Surg Pathol 2002: 26: 338-343.
    • (2002) Am J Surg Pathol , vol.26 , pp. 338-343
    • Mathiak, M.1    Rutten, A.2    Mangold, E.3
  • 41
    • 0015429267 scopus 로고
    • Multiple hamartoma syndrome (Cowden's disease)
    • Weary P E, Gorlin R J, Gentry W C Jr et al. Multiple hamartoma syndrome (Cowden's disease). Arch Dermatol 1972: 106: 682-690.
    • (1972) Arch Dermatol , vol.106 , pp. 682-690
    • Weary, P.E.1    Gorlin, R.J.2    Gentry Jr., W.C.3
  • 42
    • 0001182707 scopus 로고
    • Cowden's disease. A possible new symptom complex with multiple system involvement
    • Lloyd K M 2nd, Dennis M. Cowden's disease. A possible new symptom complex with multiple system involvement. Ann Intern Med 1963: 58: 136-142.
    • (1963) Ann Intern Med , vol.58 , pp. 136-142
    • Lloyd II, K.M.1    Dennis, M.2
  • 43
    • 0022638092 scopus 로고
    • Cowden's disease: A further indication for prophylactic mastectomy
    • Walton B J, Morain W D, Baughman R D et al. Cowden's disease: A further indication for prophylactic mastectomy. Surgery 1986: 99: 82-86.
    • (1986) Surgery , vol.99 , pp. 82-86
    • Walton, B.J.1    Morain, W.D.2    Baughman, R.D.3
  • 44
    • 0035088435 scopus 로고    scopus 로고
    • Male breast cancer in Cowden syndrome patients with germline PTEN mutations
    • Fackenthal J D, Marsh D J, Richardson A L et al. Male breast cancer in Cowden syndrome patients with germline PTEN mutations. J Med Genet 2001: 38: 159-164.
    • (2001) J Med Genet , vol.38 , pp. 159-164
    • Fackenthal, J.D.1    Marsh, D.J.2    Richardson, A.L.3
  • 45
    • 0022649866 scopus 로고
    • The Cowden syndrome: A clinical and genetic study in 21 patients
    • Starink T M, van der Veen J P, Arwert F et al. The Cowden syndrome: A clinical and genetic study in 21 patients. Clin Genet 1986: 29: 222-233.
    • (1986) Clin Genet , vol.29 , pp. 222-233
    • Starink, T.M.1    van der Veen, J.P.2    Arwert, F.3
  • 48
    • 0022001455 scopus 로고
    • The cutaneous pathology of Cowden's disease: New findings
    • Starink T M, Meijer C J, Brownstein M H. The cutaneous pathology of Cowden's disease: New findings. J Cutan Pathol 1985: 12: 83-93.
    • (1985) J Cutan Pathol , vol.12 , pp. 83-93
    • Starink, T.M.1    Meijer, C.J.2    Brownstein, M.H.3
  • 49
    • 0026065337 scopus 로고
    • Circumscribed storiform collagenoma (sclerosing fibroma)
    • Metcalf J S, Maize J C, LeBoit P E. Circumscribed storiform collagenoma (sclerosing fibroma). Am J Dermatopathol 1991: 13: 122-129.
    • (1991) Am J Dermatopathol , vol.13 , pp. 122-129
    • Metcalf, J.S.1    Maize, J.C.2    LeBoit, P.E.3
  • 50
  • 51
    • 0019308418 scopus 로고
    • Trichilemmoma. Benign follicular tumor or viral wart?
    • Brownstein M H. Trichilemmoma. Benign follicular tumor or viral wart? Am J Dermatopathol 1980: 2: 229-231.
    • (1980) Am J Dermatopathol , vol.2 , pp. 229-231
    • Brownstein, M.H.1
  • 52
    • 0002152007 scopus 로고
    • Sur un ganglioneurome diffus du cortex du cervelet
    • Lhermitte J, Duclos P. Sur un ganglioneurome diffus du cortex du cervelet. Bull Assoc Fr Cancer 1920: 9: 99-107.
    • (1920) Bull Assoc Fr Cancer , vol.9 , pp. 99-107
    • Lhermitte, J.1    Duclos, P.2
  • 53
    • 0025865691 scopus 로고
    • Lhermitte-Duclos disease and Cowden disease: A single phakomatosis
    • Padberg G W, Schot J D, Vielvoye G J et al. Lhermitte-Duclos disease and Cowden disease: A single phakomatosis. Ann Neurol 1991: 29: 517-523.
    • (1991) Ann Neurol , vol.29 , pp. 517-523
    • Padberg, G.W.1    Schot, J.D.2    Vielvoye, G.J.3
  • 54
    • 0030936323 scopus 로고    scopus 로고
    • PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer
    • Li J, Yen C, Liaw D et al. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science 1997: 275: 1943-1947.
    • (1997) Science , vol.275 , pp. 1943-1947
    • Li, J.1    Yen, C.2    Liaw, D.3
  • 55
    • 0031004088 scopus 로고    scopus 로고
    • Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome
    • Liaw D, Marsh D J, Li J et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 1997: 16: 64-67.
    • (1997) Nat Genet , vol.16 , pp. 64-67
    • Liaw, D.1    Marsh, D.J.2    Li, J.3
  • 56
    • 0033738748 scopus 로고    scopus 로고
    • Will the real Cowden syndrome please stand up: Revised diagnostic criteria
    • Eng C. Will the real Cowden syndrome please stand up: Revised diagnostic criteria. J Med Genet 2000: 37: 828-830.
    • (2000) J Med Genet , vol.37 , pp. 828-830
    • Eng, C.1
  • 57
    • 0030770814 scopus 로고    scopus 로고
    • Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease
    • Arch E M, Goodman B K, Van Wesep R A et al. Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. Am J Med Genet 1997: 71: 489-493.
    • (1997) Am J Med Genet , vol.71 , pp. 489-493
    • Arch, E.M.1    Goodman, B.K.2    Van Wesep, R.A.3
  • 58
    • 0031203265 scopus 로고    scopus 로고
    • Germline mutations in PTEN are present in Bannayan-Zonana syndrome
    • Marsh D J, Dahia P L, Zheng Z et al. Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet 1997: 16: 333-334.
    • (1997) Nat Genet , vol.16 , pp. 333-334
    • Marsh, D.J.1    Dahia, P.L.2    Zheng, Z.3
  • 59
    • 0032853452 scopus 로고    scopus 로고
    • PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
    • Marsh D J, Kum J B, Lunetta K L et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 1999: 8: 1461-1472.
    • (1999) Hum Mol Genet , vol.8 , pp. 1461-1472
    • Marsh, D.J.1    Kum, J.B.2    Lunetta, K.L.3
  • 60
    • 0036206130 scopus 로고    scopus 로고
    • Protean PTEN: Form and function
    • Waite K A, Eng C. Protean PTEN: Form and function. Am J Hum Genet 2002: 70: 829-844.
    • (2002) Am J Hum Genet , vol.70 , pp. 829-844
    • Waite, K.A.1    Eng, C.2
  • 61
    • 2342458960 scopus 로고    scopus 로고
    • Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome
    • Pilarski R, Eng C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet 2004: 41: 323-326.
    • (2004) J Med Genet , vol.41 , pp. 323-326
    • Pilarski, R.1    Eng, C.2
  • 62
    • 0031040201 scopus 로고    scopus 로고
    • Detection of HPV DNA in trichilemmomas by polymerase chain reaction
    • Rohwedder A, Keminer O, Hendricks C et al. Detection of HPV DNA in trichilemmomas by polymerase chain reaction. J Med Virol 1997: 51: 119-125.
    • (1997) J Med Virol , vol.51 , pp. 119-125
    • Rohwedder, A.1    Keminer, O.2    Hendricks, C.3
  • 63
    • 0041384538 scopus 로고    scopus 로고
    • Identification of human papillomavirus DNA in cutaneous lesions of Cowden syndrome
    • Schaller J, Rohwedder A, Burgdorf W H et al. Identification of human papillomavirus DNA in cutaneous lesions of Cowden syndrome. Dermatology 2003: 207: 134-140.
    • (2003) Dermatology , vol.207 , pp. 134-140
    • Schaller, J.1    Rohwedder, A.2    Burgdorf, W.H.3
  • 64
    • 0022397926 scopus 로고
    • The complex of myxomas, spotty pigmentation, and endocrine overactivity
    • Carney J A, Gordon H, Carpenter P C et al. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore) 1985: 64: 270-283.
    • (1985) Medicine (Baltimore) , vol.64 , pp. 270-283
    • Carney, J.A.1    Gordon, H.2    Carpenter, P.C.3
  • 65
    • 0018928973 scopus 로고
    • A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: The NAME syndrome
    • Atherton D J, Pitcher D W, Wells R S et al. A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome. Br J Dermatol 1980: 103: 421-429.
    • (1980) Br J Dermatol , vol.103 , pp. 421-429
    • Atherton, D.J.1    Pitcher, D.W.2    Wells, R.S.3
  • 66
    • 0021335647 scopus 로고
    • Mucocutaneous lentigines, cardiomucocutaneous myxomas, and multiple blue nevi: The "LAMB" syndrome
    • Rhodes A R, Silverman R A, Harrist T J et al. Mucocutaneous lentigines, cardiomucocutaneous myxomas, and multiple blue nevi: The "LAMB" syndrome. J Am Acad Dermatol 1984: 10: 72-82.
    • (1984) J Am Acad Dermatol , vol.10 , pp. 72-82
    • Rhodes, A.R.1    Silverman, R.A.2    Harrist, T.J.3
  • 67
    • 0028140432 scopus 로고
    • Myxomas of the external ear and their significance
    • Ferreiro J A, Carney J A. Myxomas of the external ear and their significance. Am J Surg Pathol 1994: 18: 274-280.
    • (1994) Am J Surg Pathol , vol.18 , pp. 274-280
    • Ferreiro, J.A.1    Carney, J.A.2
  • 68
    • 85047691288 scopus 로고
    • Cutaneous myxomas. A major component of the complex of myxomas, spotty pigmentation, and endocrine overactivity
    • Carney J A, Headington J T, Su W P. Cutaneous myxomas. A major component of the complex of myxomas, spotty pigmentation, and endocrine overactivity. Arch Dermatol 1986: 122: 790-798.
    • (1986) Arch Dermatol , vol.122 , pp. 790-798
    • Carney, J.A.1    Headington, J.T.2    Su, W.P.3
  • 69
    • 0030049959 scopus 로고    scopus 로고
    • The epithelioid blue nevus. A multicentric familial tumor with important associations, including cardiac myxoma and psammomatous melanotic schwannoma
    • Carney J A, Ferreiro J A. The epithelioid blue nevus. A multicentric familial tumor with important associations, including cardiac myxoma and psammomatous melanotic schwannoma. Am J Surg Pathol 1996: 20: 259-272.
    • (1996) Am J Surg Pathol , vol.20 , pp. 259-272
    • Carney, J.A.1    Ferreiro, J.A.2
  • 70
    • 0032853244 scopus 로고    scopus 로고
    • Epithelioid blue nevus occurring in children with no evidence of Carney complex
    • O'Grady T C, Barr R J, Billman G et al. Epithelioid blue nevus occurring in children with no evidence of Carney complex. Am J Dermatopathol 1999: 21: 483-486.
    • (1999) Am J Dermatopathol , vol.21 , pp. 483-486
    • O'Grady, T.C.1    Barr, R.J.2    Billman, G.3
  • 71
    • 0017736213 scopus 로고
    • The triad of gastric leiomyosarcoma, functioning extra-adrenal paraganglioma and pulmonary chondroma
    • Carney J A, Sheps S G, Go V L et al. The triad of gastric leiomyosarcoma, functioning extra-adrenal paraganglioma and pulmonary chondroma. N Engl J Med 1977: 296: 1517-1518.
    • (1977) N Engl J Med , vol.296 , pp. 1517-1518
    • Carney, J.A.1    Sheps, S.G.2    Go, V.L.3
  • 72
    • 0029206653 scopus 로고
    • The search for Harvey Cushing's patient, Minnie G., and the cause of her hypercortisolism
    • Carney J A. The search for Harvey Cushing's patient, Minnie G., and the cause of her hypercortisolism. Am J Surg Pathol 1995: 19: 100-108.
    • (1995) Am J Surg Pathol , vol.19 , pp. 100-108
    • Carney, J.A.1
  • 73
    • 0024853439 scopus 로고
    • Familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease. Reinvestigation 50 years later
    • Young W F Jr, Carney J A, Musa B U et al. Familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease. Reinvestigation 50 years later. N Engl J Med 1989: 321: 1659-1664.
    • (1989) N Engl J Med , vol.321 , pp. 1659-1664
    • Young, W.F.1    Carney, J.A.2    Musa, B.U.3
  • 74
    • 0025272856 scopus 로고
    • Psammomatous melanotic schwannoma. A distinctive, heritable tumor with special associations, including cardiac myxoma and the Cushing syndrome
    • Carney J A. Psammomatous melanotic schwannoma. A distinctive, heritable tumor with special associations, including cardiac myxoma and the Cushing syndrome. Am J Surg Pathol 1990: 14: 206-222.
    • (1990) Am J Surg Pathol , vol.14 , pp. 206-222
    • Carney, J.A.1
  • 75
    • 0031852873 scopus 로고    scopus 로고
    • Epithelioid blue nevus and psammomatous melanotic schwannoma: The unusual pigmented skin tumors of the Carney complex
    • Carney J A, Stratakis C A. Epithelioid blue nevus and psammomatous melanotic schwannoma: The unusual pigmented skin tumors of the Carney complex. Semin Diagn Pathol 1998: 15: 216-224.
    • (1998) Semin Diagn Pathol , vol.15 , pp. 216-224
    • Carney, J.A.1    Stratakis, C.A.2
  • 76
    • 0025783744 scopus 로고
    • Myxoid fibroadenoma and allied conditions (myxomatosis) of the breast. A heritable disorder with special associations including cardiac and cutaneous myxomas
    • Carney J A, Toorkey B C. Myxoid fibroadenoma and allied conditions (myxomatosis) of the breast. A heritable disorder with special associations including cardiac and cutaneous myxomas. Am J Surg Pathol 1991: 15: 713-721.
    • (1991) Am J Surg Pathol , vol.15 , pp. 713-721
    • Carney, J.A.1    Toorkey, B.C.2
  • 77
    • 0033812849 scopus 로고    scopus 로고
    • Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex
    • Kirschner L S, Carney J A, Pack S D et al. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 2000: 26: 89-92.
    • (2000) Nat Genet , vol.26 , pp. 89-92
    • Kirschner, L.S.1    Carney, J.A.2    Pack, S.D.3
  • 78
    • 0037389713 scopus 로고    scopus 로고
    • Chromosome 2 (2p16) abnormalities in Carney complex tumours
    • Matyakhina L, Pack S, Kirschner L S et al. Chromosome 2 (2p16) abnormalities in Carney complex tumours. J Med Genet 2003: 40: 268-277.
    • (2003) J Med Genet , vol.40 , pp. 268-277
    • Matyakhina, L.1    Pack, S.2    Kirschner, L.S.3
  • 79
    • 33746649056 scopus 로고    scopus 로고
    • Carney complex
    • In: LeBoit P E, Burg G, Weedon D et al., eds. Lyon: IARC Press
    • Burgdorf W, Carney J A. Carney complex. In: LeBoit P E, Burg G, Weedon D et al., eds. Pathology and Genetics of Skin Tumors. Lyon: IARC Press, 2006: 291-292.
    • (2006) Pathology and Genetics of Skin Tumors , pp. 291-292
    • Burgdorf, W.1    Carney, J.A.2
  • 80
    • 0017760671 scopus 로고
    • Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons
    • Birt A R, Hogg G R, Dube W J. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 1977: 113: 1674-1677.
    • (1977) Arch Dermatol , vol.113 , pp. 1674-1677
    • Birt, A.R.1    Hogg, G.R.2    Dube, W.J.3
  • 81
    • 0016770524 scopus 로고
    • Perifollicular fibromatosis cutis with polyps of the colon - A cutaneo-intestinal syndrome sui generis
    • Hornstein O P, Knickenberg M. Perifollicular fibromatosis cutis with polyps of the colon - a cutaneo-intestinal syndrome sui generis. Arch Dermatol Res 1975: 253: 161-175.
    • (1975) Arch Dermatol Res , vol.253 , pp. 161-175
    • Hornstein, O.P.1    Knickenberg, M.2
  • 82
    • 0001177458 scopus 로고
    • Über einen bisher unbekannten Nebenapparat des Menschen: Haarscheiben
    • Pinkus F. Über einen bisher unbekannten Nebenapparat des Menschen: Haarscheiben. Dermatol Z 1902: 9: 465-469.
    • (1902) Dermatol Z , vol.9 , pp. 465-469
    • Pinkus, F.1
  • 83
    • 13344272501 scopus 로고
    • Über die Haarscheiben des Nabelschweins (Pekari-Dicotyles). Zugleich ein Beitrag zur Kenntnis der Muskulatur der Haare
    • Pinkus F. Über die Haarscheiben des Nabelschweins (Pekari-Dicotyles). Zugleich ein Beitrag zur Kenntnis der Muskulatur der Haare. Arch Dermatol Syphiligr 1933: 169: 379-396.
    • (1933) Arch Dermatol Syphiligr , vol.169 , pp. 379-396
    • Pinkus, F.1
  • 84
    • 0016200475 scopus 로고
    • Trichodiscoma. A benign tumor related to haarscheibe (hair disk)
    • Pinkus H, Coskey R, Burgess G H. Trichodiscoma. A benign tumor related to haarscheibe (hair disk). J Invest Dermatol 1974: 63: 212-218.
    • (1974) J Invest Dermatol , vol.63 , pp. 212-218
    • Pinkus, H.1    Coskey, R.2    Burgess, G.H.3
  • 85
    • 0000984856 scopus 로고
    • Fibromes sous-cutanes peripilaires multiples du cou
    • Burnier M, Rejsek P. Fibromes sous-cutanes peripilaires multiples du cou. Bull Soc Fr Dermatol Syphiligr 1925: 32: 242-243.
    • (1925) Bull Soc Fr Dermatol Syphiligr , vol.32 , pp. 242-243
    • Burnier, M.1    Rejsek, P.2
  • 87
    • 0017571247 scopus 로고
    • Multiple fibrofolliculomas (Birt-Hogg-Dube) associated with a large connective tissue nevus
    • Weintraub R, Pinkus H. Multiple fibrofolliculomas (Birt-Hogg-Dube) associated with a large connective tissue nevus. J Cutan Pathol 1977: 4: 289-299.
    • (1977) J Cutan Pathol , vol.4 , pp. 289-299
    • Weintraub, R.1    Pinkus, H.2
  • 89
    • 0027283866 scopus 로고
    • Mantleoma. A benign neoplasm with mantle differentiation
    • Steffen C. Mantleoma. A benign neoplasm with mantle differentiation. Am J Dermatopathol 1993: 15: 306-310.
    • (1993) Am J Dermatopathol , vol.15 , pp. 306-310
    • Steffen, C.1
  • 90
    • 0032942317 scopus 로고    scopus 로고
    • Birt-Hogg-Dube syndrome and Hornstein-Knickenberg syndrome are the same. Different sectioning technique as the cause of different histology
    • Schulz T, Hartschuh W. Birt-Hogg-Dube syndrome and Hornstein-Knickenberg syndrome are the same. Different sectioning technique as the cause of different histology. J Cutan Pathol 1999: 26: 55-61.
    • (1999) J Cutan Pathol , vol.26 , pp. 55-61
    • Schulz, T.1    Hartschuh, W.2
  • 91
    • 0032718182 scopus 로고    scopus 로고
    • Birt-Hogg-Dube syndrome: A novel marker of kidney neoplasia
    • Toro J R, Glenn G, Duray P et al. Birt-Hogg-Dube syndrome: A novel marker of kidney neoplasia. Arch Dermatol 1999: 135: 1195-1202.
    • (1999) Arch Dermatol , vol.135 , pp. 1195-1202
    • Toro, J.R.1    Glenn, G.2    Duray, P.3
  • 92
    • 0000939691 scopus 로고    scopus 로고
    • Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome
    • Nickerson M L, Warren M B, Toro J R et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. Cancer Cell 2002: 2: 157-164.
    • (2002) Cancer Cell , vol.2 , pp. 157-164
    • Nickerson, M.L.1    Warren, M.B.2    Toro, J.R.3
  • 93
    • 0036122090 scopus 로고    scopus 로고
    • Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome
    • Zbar B, Alvord W G, Glenn G et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome. Cancer Epidemiol Biomarkers Prev 2002: 11: 393-400.
    • (2002) Cancer Epidemiol Biomarkers Prev , vol.11 , pp. 393-400
    • Zbar, B.1    Alvord, W.G.2    Glenn, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.