Advertisement

Basalzellnävussyndrom

  • Heidi Hahn
Part of the Molekulare Medizin book series (MOLMED)

Zusammenfassung

Das Basalzellnävussyndrom, welches nach seinen Beschreibern auch Gorlin-Goltz-Syndrom oder Gorlin-Syndrom genannt wird, ist eine seltene, autosomal-dominante Erbkrankheit. Sie ist durch eine Kombination von Entwicklungsdefekten und einer Prädisposition zu Tumoren charakterisiert.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  1. Alcedo J, Ayzenzon M, Von Ohlen T, Noll M, Hooper JE (1996) The Drosophila smoothened gene encodes a seven-pass membrane protein, a putative receptor for the hedgehog signal. Cell 86:221–232PubMedGoogle Scholar
  2. Alexandre C, Jacinto A, Ingham PW (1996) Transcriptional activation of hedgehog target genes in Drosophila is mediated directly by the cubitus interruptus protein, a member of the GLI family of zinc finger DNA-binding proteins. Genes Dev 10:2003–2013PubMedGoogle Scholar
  3. Altaba AR (1999) Gli proteins encode context-dependent positive and negative functions: implications for development and disease. Development 126:3205–3216Google Scholar
  4. Amonette RA, Salasche SJ, Chesney TM, Clarendon CC, Dilawari RA (1981) Metastatic basal-cell carcinoma. J Dermatol Surg Oncol 7:397–400PubMedGoogle Scholar
  5. Ananthaswamy HN, Pierceall WE (1990) Molecular mechanisms of ultraviolet radiation carcinogenesis. Photochem Photobiol 52:1119–1136PubMedGoogle Scholar
  6. Anderson DE (1968) Linkage analysis of the nevoid basal cell carcinoma syndrome. Ann Hum Genet 32:113–123PubMedGoogle Scholar
  7. Anderson DE, Taylor WB, Falls HF, Davidson RT (1967) The nevoid basal cell carcinoma syndrome. Am J Hum Genet 19:12–22PubMedGoogle Scholar
  8. Arlett CF, Harcourt SA (1980) Survey of radiosensitivity in a variety of human cell strains. Cancer Res 40:926–932PubMedGoogle Scholar
  9. Aszterbaum M, Epstein J, Oro A et al. (1999) Ultraviolet and ionizing radiation enhance the growth of BCCs and trichoblastomas in patched heterozygous knockout mice. Nat Med 5:1285–1291PubMedGoogle Scholar
  10. Aurbach GD, Marcus R, Winickoff RN, Epstein EH Jr, Nigra TP (1970) Urinary excretion of 3′,5′-AMP in syndromes considered refractory to parathyroid hormone. Metabolism 19:799–808PubMedGoogle Scholar
  11. Aza-Blanc P, Ramirez-Weber FA, Läget MP, Schwartz C, Romberg TB (1997) Proteolysis that is inhibited by hedgehog targets cubitus interruptus protein to the nucleus and converts it to a repressor. Cell 89:1043–1053PubMedGoogle Scholar
  12. Bale AE (1997) Variable expressivity of patched mutations in flies and humans. Am J Hum Genet 60:10–12PubMedGoogle Scholar
  13. Bale SJ, Amos CI, Parry DM, Bale AE (1991) Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I. Am J Med Genet 40:206–210PubMedGoogle Scholar
  14. Beddis IR, Mott MG, Bullimore J (1983) Case report: nasopharyngeal rhabdomyosarcoma and Gorlin’s naevoid basal cell carcinoma syndrome. Med Pediatr Oncol 11:178–179PubMedGoogle Scholar
  15. Belloni E, Muenke M, Roessler E et al. (1996) Identification of sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 14:353–356PubMedGoogle Scholar
  16. Bialer MG, Gailani MR, McLaughlin JA, Petrikovsky B, Bale AE (1994) Prenatal diagnosis of Gorlin syndrome. Lancet 344:477PubMedGoogle Scholar
  17. Binkley GW, Johnson HH (1951) Epithelioma adenoides cysticum: basal cell nevi, agenesis of the corpus callosum and dental cysts. Arch Dermatol Syphilol 63:73–84Google Scholar
  18. Block JB, Clendenning WE (1963) Parathyroid hormone hyporesponsiveness in patients with basal-cell nevi and bone defects. N Engl J Med 268:1157–1162PubMedGoogle Scholar
  19. Boyer BE, Martin MM (1958) Marfan’s syndrome: report of a case manifesting a giant bone cyst of the mandible and multiple (110) basal cell carcinomata. Plast Reconstr Surg 22:257–263Google Scholar
  20. Capdevila J, Pariente F, Sampedro J, Alonso JL, Guerrero I (1994) Subcellular localization of the segment polarity protein patched suggests an interaction with the wingless reception complex in Drosophila embryos. Development 120:987–998PubMedGoogle Scholar
  21. Carpenter D, Stone DM, Brush J et al. (1998) Characterization of two patched receptors for the vertebrate hedgehog protein family. Proc Natl Acad Sci USA 95:13.630–13.634Google Scholar
  22. Carstea ED, Morris JA, Coleman KG et al. (1997) Niemann Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 277:228–231PubMedGoogle Scholar
  23. Chan GL, Little JB (1983) Cultured diploid fibroblasts from patients with the nevoid basal cell carcinoma syndrome are hypersensitive to killing by ionizing radiation. Am J Pathol 111:50–55PubMedGoogle Scholar
  24. Chen Y, Struhl G (1996) Dual roles for patched in sequestering and transducing hedgehog. Cell 87:553–563PubMedGoogle Scholar
  25. Chidambaram A, Goldstein AM, Gailani MR et al. (1996) Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Res 56:4599–4601PubMedGoogle Scholar
  26. Chuang PT, McMahon AP (1999) Vertebrate hedgehog signalling modulated by induction of a hedgehog-binding protein. Nature 397:617–621PubMedGoogle Scholar
  27. Cohen MM Jr (1999) Nevoid basal cell carcinoma syndrome: molecular biology and new hypotheses. Int J Oral Maxillofac Surg 28:216–223PubMedGoogle Scholar
  28. Cohen PR, Kohn SR, Davis DA, Kurzrock R (1995) Muir-Torre syndrome. Dermatol Clin 13:79–89PubMedGoogle Scholar
  29. Cooper MK, Porter JA, Young KE, Beachy PA (1998) Teratogen-mediated inhibition of target tissue response to Shh signaling. Science 280:1603–1607PubMedGoogle Scholar
  30. Cotsarelis G, Sun TT, Lavker RM (1990) Label-retaining cells reside in the bulge area of pilosebaceous unit: implications for follicular stem cells, hair cycle, and skin carcinogenesis. Cell 61:1329–1337PubMedGoogle Scholar
  31. Cotten S Jr, Super S, SunderRaj M, Chaudhry A (1982) Multiple nevoid basal cell carcinoma syndrome. J Oral Med 37:69–73PubMedGoogle Scholar
  32. Cristofolini M, Zumiani G, Scappini P, Piscioli F (1984) Aromatic retinoid in the chemoprevention of the progression of nevoid basal-cell carcinoma syndrome. J Dermatol Surg Oncol 10:778–781PubMedGoogle Scholar
  33. Dahl I, Angervall L, Save-Soderbergh J (1976) Foetal rhabdomyoma. Case report of a patient with two tumours. Acta Pathol Microbiol Scand [A] 84:107–112Google Scholar
  34. Dahmane N, Lee J, Robins P, Heller P, Ruiz i Altaba A (1997) Activation of the transcription factor Glil and the Sonic hedgehog signalling pathway in skin tumours. Nature 389:876–881PubMedGoogle Scholar
  35. De Kersaint-Gilly A, Hofmann B, Delaire J et al. (1985) A neuroradiological study of the naevoid basal cell carcinoma syndrome. Eighteen cases. J Neuroradiol 12:200–211PubMedGoogle Scholar
  36. Degos R, Civatte J, Touraine R, Guilaine J (1964) [Spontaneously Healing Ferguson-Smith Epitheliomas and Multiple Familial Keratoacanthomas]. Hautarzt 15:7–11PubMedGoogle Scholar
  37. Doige CA, Ames GF (1993) ATP-dependent transport systems in bacteria and humans: relevance to cystic fibrosis and multidrug resistance. Annu Rev Microbiol 47:291–319PubMedGoogle Scholar
  38. Drobetsky EA, Grosovsky AJ, Glickman BW (1987) The specificity of UV-induced mutations at an endogenous locus in mammalian cells. Proc Natl Acad Sci USA 84:9103–9107PubMedGoogle Scholar
  39. Dunnick NR, Head GL, Peck GL, Yoder FW (1978) Nevoid basal cell carcinoma syndrome: radiographic manifestations including cystlike lesions of the phalanges. Radiology 127:331–334PubMedGoogle Scholar
  40. Evans DG, Farndon PA, Burnell LD, Gattamaneni HR, Birch JM (1991) The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br J Cancer 64:959–961PubMedGoogle Scholar
  41. Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA (1993) Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 30:460–464PubMedGoogle Scholar
  42. Fairley JA, Heintz PW, Neuburg M, Diaz LA, Giudice GJ (1995) Expression pattern of the bullous pemphigoid-180 antigen in normal and neoplastic epithelia. Br J Dermatol 133:385–391PubMedGoogle Scholar
  43. Fan H, Oro AE, Scott MP, Khavari PA (1997) Induction of basal cell carcinoma features in transgenic human skin expressing sonic Hedgehog. Nat Med 3:788–792PubMedGoogle Scholar
  44. Farndon PA, Simmons J (1987) Linkage analysis of the nevoid basal cell carcinoma syndrome (NBCCS) and chromosomel markers (Abstract). Cytogenet Cell Genet 46:612Google Scholar
  45. Farndon PA, Del Mastro RG, Evans DG, Kilpatrick MW (1992) Location of gene for Gorlin syndrome. Lancet 339:581–582PubMedGoogle Scholar
  46. Farndon PA, Morris DJ, Hardy C et al. (1994) Analysis of 133 méioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2.6-cM interval and contributes to the fine map of 9q22.3. Genomics 23:486–489PubMedGoogle Scholar
  47. Farwell JR, Dohrmann GJ, Flannery JT (1984) Medulloblastoma in childhood: an epidemiological study. J Neurosurg 61:657–664PubMedGoogle Scholar
  48. Featherstone T, Taylor AM, Harnden DG (1983) Studies on the radiosensitivity of cells from patients with basal cell naevus syndrome. Am J Hum Genet 35:58–66PubMedGoogle Scholar
  49. Fielding CJ, Fielding PE (1997) Intracellular cholesterol transport. J Lipid Res 38:1503–1521PubMedGoogle Scholar
  50. Gailani MR, Bale AE (1997) Developmental genes and cancer: role of patched in basal cell carcinoma of the skin. J Natl Cancer Inst 89:1103–1109PubMedGoogle Scholar
  51. Gailani MR, Bale SJ, Leffell DJ et al. (1992) Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell 69:111–117PubMedGoogle Scholar
  52. Gailani MR, Leffell DJ, Ziegler A, Gross EG, Brash DE, Bale AE (1996a) Relationship between sunlight exposure and a key genetic alteration in basal cell carcinoma. J Natl Cancer Inst 88:349–354PubMedGoogle Scholar
  53. Gailani MR, Stahle-Backdahl M, Leffell DJ et al. (1996b) The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. Nat Genet 14:78–81PubMedGoogle Scholar
  54. Gailani MR, Jj KH (1999) Association of the sonic hedgehog receptor patched with caveolin-1. Am J Hum Genet [Suppl] 65:A79–A79Google Scholar
  55. Gemmili RM, West JD, Boldog F et al. (1998) The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8. Proc Natl Acad Sci USA 95:9572–9577Google Scholar
  56. Gilhuus-Moe O, Haugen LK, Dee PM (1968) The syndrome of multiple cysts of the jaws, basal cell carcinomata and skeletal anomalies. Br J Oral Surg 5:211–222PubMedGoogle Scholar
  57. Gloster HM Jr, Brodland DG (1996) The epidemiology of skin cancer. Dermatol Surg 22:217–226PubMedGoogle Scholar
  58. Goldberg LH (1996) Basal cell carcinoma. Lancet 347:663–667PubMedGoogle Scholar
  59. Golitz LE, Norris DA, Luekens CA Jr, Charles DM (1980) Nevoid basal cell carcinoma syndrome. Multiple basal cell carcinomas of the palms after radiation therapy. Arch Dermatol 116:1159–1163PubMedGoogle Scholar
  60. Goodrich LV, Johnson RL, Milenkovic L, McMahon JA, Scott MP (1996) Conservation of the hedgehog/patched signaling pathway from flies to mice: induction of a mouse patched gene by hedgehog. Genes Dev 10:301–312PubMedGoogle Scholar
  61. Goodrich LV, Milenkovic L, Higgins KM, Scott MP (1997) Altered neural cell fates and medulloblastoma in mouse patched mutants. Science 277:1109–1113PubMedGoogle Scholar
  62. Gorlin RJ (1987) Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore) 66:98–113Google Scholar
  63. Gorlin RJ (1995) Nevoid basal cell carcinoma syndrome. Dermatol Clin 13:113–125PubMedGoogle Scholar
  64. Gorlin RJ, Goltz RW (1960) Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. N Engl J Med 262:908–912PubMedGoogle Scholar
  65. Gorlin RJ, Sedano HO (1971) The multiple nevoid basal cell carcinoma syndrome revisited. Birth Defects Orig Artie Ser 7:140–148Google Scholar
  66. Hahn H, Christiansen J, Wicking C et al. (1996a) A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities. J Biol Chem 271:12.125–12.128Google Scholar
  67. Hahn H, Wicking C, Zaphiropoulous PG et al. (1996b) Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85:841–851PubMedGoogle Scholar
  68. Hahn H, Wojnowski L, Zimmer AM, Hall J, Miller G, Zimmer A (1998) Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome. Nat Med 4:619–622PubMedGoogle Scholar
  69. Hahn H, Wojnowski L, Miller G, Zimmer A (1999) The patched signaling pathway in tumorigenesis and development: lessons from animal models. J Mol Med 77:459–468PubMedGoogle Scholar
  70. Hammerschmidt M, Brook A, McMahon AP (1997) The world according to hedgehog. Trends Genet 13:14–21PubMedGoogle Scholar
  71. Hasenpusch-Theil K, Bataille V, Laehdetie J et al. (1998) Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Hum Mutat 11:480PubMedGoogle Scholar
  72. Hashimoto K, Howell JB, Yamanishi Y, Holubar K, Bernhard R Jr (1972) Electron microscopic studies of palmar and plantar pits of nevoid basal cell epithelioma. J Invest Dermatol 59:380–393PubMedGoogle Scholar
  73. Headington JT (1976) Tumors of the hair follicle. A review. Am J Pathol 85:479–514PubMedGoogle Scholar
  74. Heimler A, Friedman E, Rosenthal AD (1978) Naevoid basal cell carcinoma syndrome and Charcot-Marie-Tooth disease: two autosomal dominant disorders segregating in a family. J Med Genet 15:288–291PubMedGoogle Scholar
  75. Herges A, Stieler W, Stadler R (1993) [Bazex-Dupre-Christol Syndrome. Follicular atrophoderma, multiple basal cell carcinomas and hypotrichosis]. Hautarzt 44:385–391PubMedGoogle Scholar
  76. Herzberger JJ, Wiskemann A (1963) Die fünfte Phakomatose. Basalzellnävus mit familiärer Belastung und Medulloblastom. Dermatologica 126:106–123Google Scholar
  77. Hodak E, Ginzburg A, David M, Sandbank M (1987) Etretinate treatment of the nevoid basal cell carcinoma syndrome. Therapeutic and chemopreventive effect. Int J Dermatol 26:606–609PubMedGoogle Scholar
  78. Hooper JE, Scott MP (1989) The Drosophila patched gene encodes a putative membrane protein required for segmental patterning. Cell 59:751–765PubMedGoogle Scholar
  79. Howell JB, Caro MR (1959) The basal cell nevus: its relationship to multiple cutaneous cancers and associated anomalies of development. Arch Dermatol 79:67–80Google Scholar
  80. Howell JB, Freeman RG (1980) Structure and significance of the pits with their tumors in the nevoid basal cell carcinoma syndrome. J Am Acad Dermatol 2:224–238PubMedGoogle Scholar
  81. Hughes JR, Higgins EM, Smith J, Du Vivier AW (1995) Increase in non-melanoma skin cancer — the King’s College Hospital experience (1970–92). Clin Exp Dermatol 20:304–307PubMedGoogle Scholar
  82. Hutchinson F (1994) Induction of tandem-base change mutations. Mutat Res 309:11–15PubMedGoogle Scholar
  83. Ingham PW (1998) Transducing hedgehog: the story so far. EMBO J 17:3505–3511PubMedGoogle Scholar
  84. Jarisch W (1894) Zur Lehre von den Hautgeschwülsten. Arch Dermatol Syphilol (Beri) 28:162–222Google Scholar
  85. Johnson RL, Rothman AL, Xie J et al. (1996) Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272:1668–1671PubMedGoogle Scholar
  86. Junge J, Moll I (1995) [Multiple palmoplantar keratoses, basaliomas and porocarcinomas after arsenic therapy]. Hautarzt 46:198–201PubMedGoogle Scholar
  87. Kallassy M, Toftgard R, Ueda M et al. (1997) Patched (ptch)-associated preferential expression of smoothened (smoh) in human basal cell carcinoma of the skin. Cancer Res 57:4731–4735PubMedGoogle Scholar
  88. Keeler RF (1970) Teratogenic compounds in Veratrum californicum (Durand) IX. Structure-activity relation. Teratology 3:169–173PubMedGoogle Scholar
  89. Kimonis VE, Goldstein AM, Pastakia B et al. (1997) Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69:299–308PubMedGoogle Scholar
  90. Knudson AG Jr (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820–823PubMedGoogle Scholar
  91. Ko CB, Walton S, Keczkes K (1992) Extensive and fatal basal cell carcinoma: a report of three cases. Br J Dermatol 127:164–167PubMedGoogle Scholar
  92. Kogerman P, Grimm T, Kogerman L et al. (1999) Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of Gli-1. Nat Cell Biol 1:312–319PubMedGoogle Scholar
  93. Kruger K, Blume-Peytavi U, Orfanos CE (1999) Basal cell carcinoma possibly originates from the outer root sheath and/or the bulge region of the vellus hair follicle. Arch Dermatol Res 291:253–259PubMedGoogle Scholar
  94. Lacombe D, Chateil JF, Fontan D, Battin J (1990) Medulloblastoma in the nevoid basal-cell carcinoma syndrome: case reports and review of the literature. Genet Couns 1:273–277PubMedGoogle Scholar
  95. Lazarova Z, Domloge-Hultsch N, Yancey KB (1995) Epiligrin is decreased in papulonodular basal cell carcinoma tumor nest basement membranes and the extracellular matrix of transformed human epithelial cells. Exp Dermatol 4:121–129PubMedGoogle Scholar
  96. Leppard BJ (1983) Skin cysts in the basal cell naevus syndrome. Clin Exp Dermatol 8:603–612PubMedGoogle Scholar
  97. Levanat S, Gorlin R, Fallet S, Johnson D, Fantasia J, Bale A (1996) A two-hit model for developmental defects in Gorlin syndrome. Nat Genet 12:85–87PubMedGoogle Scholar
  98. Lever WF, Schaumberg-Lever G (1990) Histopathology of the skin, 7th edn. Lippincott, Philadelphia, pp 578–650Google Scholar
  99. Lewis MT, Ross S, Strickland PA et al. (1999) Defects in mouse mammary gland development caused by conditional haploinsufficiency of patched-1. Development 126:5181–593PubMedGoogle Scholar
  100. Lieu FM, Yamanishi K, Konishi K, Kishimoto S, Yasuno H (1991) Low incidence of Ha-ras oncogene mutations in human epidermal tumors. Cancer Lett 59:231–235PubMedGoogle Scholar
  101. Lo Muzio L, Nocini PF, Savoia A et al. (1999) Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals. Clin Genet 55:34–40PubMedGoogle Scholar
  102. Loftus SK, Morris JA, Carstea ED et al. (1997) Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene. Science 277:232–235PubMedGoogle Scholar
  103. Long SD, Kuhn MJ, Wynstra JH (1993) Intracranial extension of basal cell carcinoma of the scalp. Comput Med Imaging Graph 17:469–471PubMedGoogle Scholar
  104. Marigo V, Davey RA, Zuo Y, Cunningham JM, Tabin CJ (1996) Biochemical evidence that patched is the hedgehog receptor. Nature 384:176–179PubMedGoogle Scholar
  105. Markey AC, Lane EB, Macdonald DM, Leigh IM (1992) Keratin expression in basal cell carcinomas. Br J Dermatol 126:154–160PubMedGoogle Scholar
  106. Mason JK, Helwig EB, Graham JH (1965) Pathology of the nevoid basal cell carcinoma syndrome. Arch Pathol 79:401–408PubMedGoogle Scholar
  107. McNamara T, Trotman CA, Russell KA (1998) Gorlin-Goltz: what’s in a name? Spec Care Dentist 18:84–87PubMedGoogle Scholar
  108. Michaelsson G, Olsson E, Westermark P (1981) The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. Acta Derm Venereol 61:497–503PubMedGoogle Scholar
  109. Miller SJ (1991) Biology of basal cell carcinoma (Part I). J Am Acad Dermatol 24:1–13PubMedGoogle Scholar
  110. Miller RF, Cooper RR (1972) Nevoid basal cell carcinoma syndrome. Case report: histopathology of skeletal lesions. Clin Orthop 89:246–252PubMedGoogle Scholar
  111. Miller DL, Weinstock MA (1994) Nonmelanoma skin cancer in the United States: incidence. J Am Acad Dermatol 30:774–778PubMedGoogle Scholar
  112. Monnier V, Dussillol F, Alves G, Lamour-Isnard C, Plessis A (1998) Suppressor of fused links fused and cubitus interruptus on the hedgehog signalling pathway. Curr Biol 8:583–586PubMedGoogle Scholar
  113. Morales-Ducret CR, Van de Rijn M, LeBrun DP, Smoller BR (1995) bcl-2 expression in primary malignancies of the skin. Arch Dermatol 131:909–912PubMedGoogle Scholar
  114. Motoyama J, Heng H, Crackower MA et al. (1998) Overlapping and non-overlapping ptch2 expression with shh during mouse embryogenesis. Mech Dev 78:81–84PubMedGoogle Scholar
  115. Müller PA, Krauße S, Kartsch J (1993) Das pigmentierte Basaliom. In: Petres J, Lohrisch I (Hrsg) Das Basaliom: Klinik und Therapie. Springer, Berlin Heidelberg New York, S 13–18Google Scholar
  116. Murphy KJ (1969) Subcutaneous calcification in the naevoid basal-cell carcinoma syndrome: response to parathyroid hormone and relationship to pseudo-hypoparathyroidism. Clin Radiol 20:287–93PubMedGoogle Scholar
  117. Murphy KJ (1975) Subcutaneous bone formation in the naevoid basal-cell carcinoma syndrome: normal urinary cyclic AMP response to parathyroid hormone infusion. Clin Radiol 26:37–39PubMedGoogle Scholar
  118. Nakano Y, Guerrero I, Hidalgo A, Taylor A, Whittle JR, Ingham PW (1989) A protein with several possible membrane-spanning domains encoded by the Drosophila segment polarity gene patched. Nature 341:508–513PubMedGoogle Scholar
  119. Neufeld EB, Cooney AM, Pitha J et al. (1996) Intracellular trafficking of cholesterol monitored with a cyclodextrin. J Biol Chem 271:21.604–21.613Google Scholar
  120. Nusslein-Volhard C, Wieschaus E (1980) Mutations affecting segment number and polarity in Drosophila. Nature 287:795–801PubMedGoogle Scholar
  121. Oram Y, Orengo I, Griego RD, Rosen T, Thornby J (1995) Histologic patterns of basal cell carcinoma based upon patient immunostatus. Dermatol Surg 21:611–614PubMedGoogle Scholar
  122. Oro AE, Higgins KM, Hu Z, Bonifas JM, Epstein EH Jr, Scott MP (1997) Basal cell carcinomas in mice over-expressing sonic hedgehog. Science 276:817–821PubMedGoogle Scholar
  123. Peak MJ, Peak JG, Carnes BA (1987) Induction of direct and indirect single-strand breaks in human cell DNA by far-and near-ultraviolet radiations: action spectrum and mechanisms. Photochem Photobiol 45:381–387PubMedGoogle Scholar
  124. Pollard JJ, New PF (1964) Hereditary cutaneomandibular polyoncosis. A syndrome of myriad basal-cell nevi of the skin, mandibular cysts, and inconstant skeletal anomalies. Radiology 82:840–849PubMedGoogle Scholar
  125. Pollitzer J (1905) Eine eigentümliche Karzinose der Haut: Punkt-und Strichförmige Defekte im Hornstratum der Palmae und Plantae. Arch Dermatol Syphilol (Beri) 76:323–345Google Scholar
  126. Porter JA, Ekker SC, Park WJ et al. (1996a) Hedgehog patterning activity: role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain. Cell 86:21–34PubMedGoogle Scholar
  127. Porter JA, Young KE, Beachy PA (1996b) Cholesterol modification of hedgehog signaling proteins in animal development [published erratum appears in Science 6:1597]. Science 274:255–259PubMedGoogle Scholar
  128. Rady P, Scinicariello F, Wagner RF Jr, Tyring SK (1992) p53 mutations in basal cell carcinomas. Cancer Res 52: 3804–3806PubMedGoogle Scholar
  129. Raffel C, Jenkins RB, Frederick L et al. (1997) Sporadic medulloblastomas contain PTCH mutations. Cancer Res 57:842–845PubMedGoogle Scholar
  130. Reifenberger J, Wolter M, Weber RG et al. (1998) Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. Cancer Res 58:1798–1803PubMedGoogle Scholar
  131. Reis A, Küster W, Linss G et al. (1992) Localisation of gene for the naevoid basal-cell carcinoma syndrome. Lancet 339:617PubMedGoogle Scholar
  132. Roberts RO, Lynch CF, Jones MP, Hart MN (1991) Medulloblastoma: a population-based study of 532 cases. J Neuropathol Exp Neurol 50:134–144PubMedGoogle Scholar
  133. Roessler E, Belloni E, Gaudenz K et al. (1996) Mutations in the human sonic hedgehog gene cause holoprosencephaly. Nat Genet 14:357–360PubMedGoogle Scholar
  134. Ruiz i Altaba A (1997) Catching a Gli-mpse of hedgehog. Cell 90:193–196PubMedGoogle Scholar
  135. Safai B, Good RA (1977) Basal cell carcinoma with metastasis. Review of literature. Arch Pathol Lab Med 101:327–331PubMedGoogle Scholar
  136. Sahl WJ Jr, Snow SN, Levine NS (1994) Giant basal cell carcinoma. Report of two cases and review of the literature. J Am Acad Dermatol 30:856–859PubMedGoogle Scholar
  137. Saier MH Jr (1994) Convergence and divergence in the evolution of transport proteins. Bioessays 16:23–29PubMedGoogle Scholar
  138. Sarkar G, Yoon HS, Sommer SS (1992) Dideoxy fingerprinting (ddE): a rapid and efficient screen for the presence of mutations. Genomics 13:441–443PubMedGoogle Scholar
  139. Sasaki H, Nishizaki Y, Hui C, Nakafuku M, Kondoh H (1999) Regulation of Gli2 and Gli3 activities by an amino-terminal repression domain: implication of Gli2 and Gli3 as primary mediators of Shh signaling. Development 126:3915–3924PubMedGoogle Scholar
  140. Satinoff MI, Wells C (1969) Multiple basal cell naevus syndrome in ancient Egypt. Med Hist 13:294–297PubMedGoogle Scholar
  141. Savoia P, Trusolino L, Pepino E, Cremona O, Marchisio PC (1993) Expression and topography of integrins and basement membrane proteins in epidermal carcinomas: basal but not squamous cell carcinomas display loss of alpha 6 beta 4 and BM-600/nicein. J Invest Dermatol 101:352–358PubMedGoogle Scholar
  142. Schwartz RA, Torre DP (1995) The Muir-Torre syndrome: a 25-year retrospect. J Am Acad Dermatol 33:90–104PubMedGoogle Scholar
  143. Schweisguth O, Gerard-Marchant R, Lemerle J (1968) [Basal cell nevus syndrome. Association with congenital rhabdomyosarcoma]. Arch Fr Pediatr 25:1083–1093PubMedGoogle Scholar
  144. Shafei-Benaissa E, Savage JR, Papworth D et al. (1995) Evidence of chromosomal instability in the lymphocytes of Gorlin basal-cell carcinoma patients. Mutat Res 332:27–32PubMedGoogle Scholar
  145. Shafei-Benaissa E, Savage JR, Babin P et al. (1998) The naevoid basal-cell carcinoma syndrome (Gorlin syndrome) is a chromosomal instability syndrome. Mutat Res 397:287–292PubMedGoogle Scholar
  146. Shanley S, Ratcliffe J, Hockey A et al. (1994) Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet 50:282–290PubMedGoogle Scholar
  147. Shanley SM, Dawkins H, Wainwright BJ et al. (1995) Fine deletion mapping on the long arm of chromosome 9 in sporadic and familial basal cell carcinomas. Hum Mol Genet 4:129–133PubMedGoogle Scholar
  148. Shimkets R, Gailani MR, Siu VM et al. (1996) Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients. Am J Hum Genet 59:417–422PubMedGoogle Scholar
  149. Smyth I, Wicking C, Wainwright B, Chenevix-Trench G (1998) The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome. Hum Genet 102:598–601PubMedGoogle Scholar
  150. Southwick GJ, Schwartz RA (1979) The basal cell nevus syndrome: disasters occurring among a series of 36 patients. Cancer 44:2294–2305PubMedGoogle Scholar
  151. Springate JE (1986) The nevoid basal cell carcinoma syndrome. J Pediatr Surg 21:908–910PubMedGoogle Scholar
  152. Stanley JR, Beckwith JB, Fuller RP, Katz SI (1982) A specific antigenic defect of the basement membrane is found in basal cell carcinoma but not in other epidermal tumors. Cancer 50:1486–1490PubMedGoogle Scholar
  153. Stoler A, Kopan R, Duvic M, Fuchs E (1988) Use of monospecific antisera and cRNA probes to localize the major changes in keratin expression during normal and abnormal epidermal differentiation. J Cell Biol 107:427–446PubMedGoogle Scholar
  154. Stone DM, Murone M, Luoh S et al. (1999) Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli. J Cell Sci 112:4437–4448PubMedGoogle Scholar
  155. Straith FE (1939) Hereditary epidermoid cysts of the jaws. Am J Orthodont 25:673–691Google Scholar
  156. Strong LC (1977) Genetic and environmental interactions. Cancer 40:1861–1866PubMedGoogle Scholar
  157. Sundberg JP, Adkison DL, Bedigian HG (1991) Skeletal muscle rhabdomyosarcomas in inbred laboratory mice. Vet Pathol 28:200–206PubMedGoogle Scholar
  158. Tasanen A, Lamberg MA, Nordling S (1975) Skeletal anomalies and keratocysts in the basal cell nevus syndrome. Int J Oral Surg 4:225–235PubMedGoogle Scholar
  159. Tavin E, Persky MS, Jacobs J (1995) Metastatic basal cell carcinoma of the head and neck. Laryngoscope 105:814–817PubMedGoogle Scholar
  160. Taylor WB, Wilkins JW Jr (1970) Nevoid basal cell carcinoma of the palm. Arch Dermatol 102:654–655PubMedGoogle Scholar
  161. Thoma KH (1959) Polycystoma. Oral Surg 12:484–488PubMedGoogle Scholar
  162. Tojo M, Mori T, Kiyosawa H et al. (1999) Expression of sonic hedgehog signal transducers, patched and smoothened, in human basal cell carcinoma. Pathol Int 49:687–694PubMedGoogle Scholar
  163. Totten JR (1980) The multiple nevoid basal cell carcinoma syndrome. Report of its occurrence in four generations of a family. Cancer 46:1456–1462PubMedGoogle Scholar
  164. Unden AB, Holmberg E, Lundh-Rozell B et al. (1996) Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation. Cancer Res 56:4562–4565PubMedGoogle Scholar
  165. Unden AB, Zaphiropoulos PG, Bruce K, Toftgard R, Stahle-Backdahl M (1997) Human patched (PTCH) mRNA is overexpressed consistently in tumor cells of both familial and sporadic basal cell carcinoma. Cancer Res 57:2336–2340PubMedGoogle Scholar
  166. Urano Y, Asano T, Yoshimoto K et al. (1995) Frequent p53 accumulation in the chronically sun-exposed epidermis and clonal expansion of p53 mutant cells in the epidermis adjacent to basal cell carcinoma. J Invest Dermatol 104:928–932PubMedGoogle Scholar
  167. Van den Heuvel M, Ingham PW (1996) Smoothened encodes a receptor-like serpentine protein required for hedgehog signalling. Nature 382:547–551PubMedGoogle Scholar
  168. Van der Riet P, Karp D, Farmer E et al. (1994) Progression of basal cell carcinoma through loss of chromosome 9q and inactivation of a single p53 allele. Cancer Res 54:25–27PubMedGoogle Scholar
  169. Van der Schroeff JG, Evers LM, Boot AJ, Bos JL (1990) Ras oncogene mutations in basal cell carcinomas and squamous cell carcinomas of human skin. J Invest Dermatol 94:423–425PubMedGoogle Scholar
  170. Von Domarus H, Stevens PJ (1984) Metastatic basal cell carcinoma. Report of five cases and review of 170 cases in the literature. J Am Acad Dermatol 10:1043–1060Google Scholar
  171. Vorechovsky I, Benediktsson KP, Toftgard R (1999) The patched/hedgehog/smoothened signalling pathway in human breast cancer: no evidence for H133Y SHH, PTCH and SMO mutations. Eur J Cancer 35:711–713PubMedGoogle Scholar
  172. Wang CY, Brodland DG, Su WP (1995) Skin cancers associated with acquired immunodeficiency syndrome. Mayo Clin Proc 70:766–772PubMedGoogle Scholar
  173. Wang G, Wang B, Jiang J (1999) Protein kinase A antagonizes hedgehog signaling by regulating both the activator and repressor forms of cubitus interruptus. Genes Dev 13:2828–2837PubMedGoogle Scholar
  174. Weichselbaum RR, Nove J, Little JB (1980) X-ray sensitivity of fifty-three human diploid fibroblast cell strains from patients with characterized genetic disorders. Cancer Res 40:920–925PubMedGoogle Scholar
  175. White JC (1894) Multiple benign cystic epitheliomas. J Cutan Genitourin Dis 12:477–484Google Scholar
  176. Wicking C, Bale AE (1997) Molecular basis of the nevoid basal cell carcinoma syndrome. Curr Opin Pediatr 9:630–635PubMedGoogle Scholar
  177. Wicking C, Berkman J, Wainwright B, Chenevix-Trench G (1994) Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome. Genomics 22:505–511PubMedGoogle Scholar
  178. Wicking C, Shanley S, Smyth I et al. (1997) Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the patched protein, and no genotype-phenotype correlations are evident. Am J Hum Genet 60:21–26PubMedGoogle Scholar
  179. Xie J, Johnson RL, Zhang X et al. (1997) Mutations of the patched gene in several types of sporadic extracutaneous tumors. Cancer Res 57:2369–2372PubMedGoogle Scholar
  180. Xie J, Murone M, Luoh SM et al. (1998) Activating smoothened mutations in sporadic basal-cell carcinoma. Nature 391:90–92PubMedGoogle Scholar
  181. Zaphiropoulos PG, Unden AB, Rahnama F, Hollingsworth RE, Toftgard R (1999) PTCH2, a novel human patched gene, undergoing alternative splicing and up-regulated in basal cell carcinomas. Cancer Res 59:787–792PubMedGoogle Scholar
  182. Ziegler A, Leffell DJ, Kunala S et al. (1993) Mutation hot-spots due to sunlight in the p53 gene of nonmelanoma skin cancers. Proc Natl Acad Sci USA 90:4216–4220PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2001

Authors and Affiliations

  • Heidi Hahn
    • 1
  1. 1.Institut für PathologieGSF Forschungszentrum für Umwelt und GesundheitNeuherberg

Personalised recommendations