Familial skin cancer syndromes Increased risk of nonmelanotic skin cancers and extracutaneous tumors

Journal of the American Academy of Dermatology

Volumn 74, Issue 3, 2016, Pages 437-451

  Jaju, Prajakta D ^a   Ransohoff, Katherine J ^a   Tang, Jean Y ^a   Sarin, Kavita Y ^a  

^a STANFORD UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Bloom syndrome; dyskeratosis congenita; genetic testing; Gorlin syndrome; Muir Torre syndrome; nonmelanoma skin cancer; oculocutaneous albinism; Rothmund Thomson syndrome; Werner syndrome

Indexed keywords

ADENOSINE DEAMINASE; FLUOROURACIL; IMIQUIMOD; VISMODEGIB;

ARTICLE; BASAL CELL CARCINOMA; BASAL CELL NEVUS SYNDROME; BAZEX DUPRE CHRISTOL SYNDROME; BLOOM SYNDROME; CANCER RISK; CRYOTHERAPY; DYSKERATOSIS CONGENITA; EPIDERMODYSPLASIA VERRUCIFORMIS; FAMILIAL CANCER; FERGUSON SMITH SYNDROME; GENETIC SCREENING; HUMAN; HURIEZ SYNDROME; IMMUNE DEFICIENCY; LOW LEVEL LASER THERAPY; MUIR TORRE SYNDROME; MULTIPLE SELF HEALING SQUAMOUS EPITHELIOMA; NEXT GENERATION SEQUENCING; NON MELANOMA SKIN CANCER; OCULOCUTANEOUS ALBINISM; PHOTODYNAMIC THERAPY; PRIORITY JOURNAL; ROMBO SYNDROME; ROTHMUND THOMSON SYNDROME; SQUAMOUS CELL CARCINOMA; WERNER SYNDROME; XERODERMA PIGMENTOSUM; CARCINOMA, BASAL CELL; CARCINOMA, SQUAMOUS CELL; DECISION TREE; GENETICS; NEOPLASTIC SYNDROMES, HEREDITARY; RISK; SKIN NEOPLASMS;

CARCINOMA, BASAL CELL; CARCINOMA, SQUAMOUS CELL; DECISION TREES; HUMANS; NEOPLASTIC SYNDROMES, HEREDITARY; RISK; SKIN NEOPLASMS;

EID: 84958232898     PISSN: 01909622     EISSN: 10976787     Source Type: Journal    
DOI: 10.1016/j.jaad.2015.08.073     Document Type: Review

References (92)

1. A. Lomas, J. Leonardi-Bee, and F. Bath-Hextall A systematic review of worldwide incidence of nonmelanoma skin cancer Br J Dermatol 166 2012 1069 1080
2. R.J. Gorlin, and R.W. Goltz Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome N Engl J Med 262 1960 908 912
3. J.B. Howell, and M.R. Caro The basal-cell nevus: its relationship to multiple cutaneous cancers and associated anomalies of development AMA Arch Derm 79 1959 67 77
4. L. Lo Muzio, P.F. Nocini, A. Savoia, and et al. Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals Clin Genet 55 1999 34 40
5. V.E. Kimonis, A.M. Goldstein, B. Pastakia, and et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome Am J Med Genet 69 3 1997 299 308
6. S. Shanley, J. Ratcliffe, A. Hockey, and et al. Nevoid basal cell carcinoma syndrome: review of 118 affected individuals Am J Med Genet 50 3 1994 282 290
7. R.J. Gorlin Nevoid basal-cell carcinoma syndrome Med Baltim 66 2 1987 98 113
8. P.A. Farndon, R.G. Del Mastro, D.G. Evans, and M.W. Kilpatrick Location of gene for Gorlin syndrome Lancet 339 8793 1992 581 582
9. M.M. Cohen Jr. Nevoid basal cell carcinoma syndrome: molecular biology and new hypotheses Int J Oral Maxillofac Surg 28 3 1999 216 223
10. S.-G. Ahn, Y.-S. Lim, D.-K. Kim, S.-G. Kim, S.-H. Lee, and J.-H. Yoon Nevoid basal cell carcinoma syndrome: a retrospective analysis of 33 affected Korean individuals Int J Oral Maxillofac Surg 33 5 2004 458 462
11. A.M. Goldstein, B. Pastakia, J.J. DiGiovanna, and et al. Clinical findings in two African-American families with the nevoid basal cell carcinoma syndrome (NBCC) Am J Med Genet 50 3 1994 272 281
12. M. Kiwilsza, and K. Sporniak-Tutak Gorlin-Goltz syndrome-A medical condition requiring a multidisciplinary approach Med Sci Monit 18 9 2012 RA145 RA153
13. E. Palacios, M. Serou, S. Restrepo, and R. Rojas Odontogenic keratocysts in nevoid basal cell carcinoma (Gorlin's) syndrome: CT and MRI evaluation Ear Nose Throat J 83 1 2004 40 42
14. A.F. Bree, M.R. Shah, and B.C. Group Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS) Am J Med Genet A 155A 9 2011 2091 2097
15. E.H. Epstein Basal cell carcinomas: attack of the hedgehog Nat Rev Cancer 8 10 2008 743 754
16. C. Wicking, S. Shanley, I. Smyth, and et al. 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 1 1997 21 26
17. N. Boutet, Y.-J. Bignon, V. Drouin-Garraud, and et al. Spectrum of PTCH1 mutations in French patients with Gorlin syndrome J Invest Dermatol 121 3 2003 478 481
18. E.A. Jones, M.I. Sajid, A. Shenton, and D.G. Evans Basal cell carcinomas in gorlin syndrome: a review of 202 patients J Skin Cancer 2011 2011 217378
19. M.J. Smith, C. Beetz, S.G. Williams, and et al. Germline mutations in SUFU cause Gorlin syndrome-Associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations J Clin Oncol 32 36 2014 4155 4161
20. L. Brugieres, A. Remenieras, G. Pierron, and et al. High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age J Clin Oncol 30 17 2012 2087 2093
21. Z. Fan, J. Li, J. Du, and et al. A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family J Med Genet 45 5 2008 303 308
22. D.G. Evans, and P.A. Farndon Nevoid Basal Cell Carcinoma Syndrome R.A. Pagon, M.P. Adam, H.H. Ardinger, GeneReviews(®) [Internet] 1993 University of Washington, Seattle Seattle (WA) Available from: http://www.ncbi.nlm.nih.gov/books/NBK1151/ Accessed February 23, 2015
23. K. Nouri, A. Chang, J.T. Trent, and G.P. Jimenez Ultrapulse CO2 used for the successful treatment of basal cell carcinomas found in patients with basal cell nevus syndrome Dermatol Surg 28 3 2002 287 290
24. A.M. Chapas, and B.A. Gilchrest Broad area photodynamic therapy for treatment of multiple basal cell carcinomas in a patient with nevoid basal cell carcinoma syndrome J Drugs Dermatol 5 2 Suppl 2006 3 5
25. G.L. Peck, J.J. DiGiovanna, D.S. Sarnoff, and et al. Treatment and prevention of basal cell carcinoma with oral isotretinoin J Am Acad Dermatol 19 1 Pt 2 1988 176 185
26. G. Micali, F. Lacarrubba, M.R. Nasca, and R. De Pasquale The use of imiquimod 5% cream for the treatment of basal cell carcinoma as observed in Gorlin's syndrome Clin Exp Dermatol 28 Suppl 1 2003 19 23
27. P. Vereecken, E. Monsieur, M. Petein, and M. Heenen Topical application of imiquimod for the treatment of high-risk facial basal cell carcinoma in Gorlin syndrome J Dermatol Treat 15 2 2004 120 121
28. J.Y. Tang, J.M. Mackay-Wiggan, M. Aszterbaum, and et al. Inhibiting the hedgehog pathway in patients with the basal-cell nevus syndrome N Engl J Med 366 23 2012 2180 2188
29. F. Abuzahra, L.J. Parren, and J. Frank Multiple familial and pigmented basal cell carcinomas in early childhood - Bazex-Dupre-Christol syndrome J Eur Acad Dermatol Venereol 26 1 2012 117 121
30. M. Goeteyn, M.L. Geerts, A. Kint, and J. De Weert The Bazex-Dupre-Christol syndrome Arch Dermatol 130 3 1994 337 342
31. C.A. Oley, H. Sharpe, and G. Chenevix-Trench Basal cell carcinomas, coarse sparse hair, and milia Am J Med Genet 43 5 1992 799 804
32. V. Andreani, M. Richard, G. Folchetti, S. Varennes, N. Philip, and J.J. Grob [Congenital hypotrichosis and milia with spontaneous regression during adolescence or Oley syndrome: a variant of Bazex-Dupre-Christol syndrome] Ann Dermatol Venereol 127 3 2000 285 288
33. P. Vabres, D. Lacombe, L.G. Rabinowitz, and et al. The gene for Bazex-Dupre-Christol syndrome maps to chromosome Xq J Invest Dermatol 105 1 1995 87 91
34. L.J. Parren, F. Abuzahra, T. Wagenvoort, and et al. Linkage refinement of Bazex-Dupre-Christol syndrome to an 11.4-Mb interval on chromosome Xq25-27.1 Br J Dermatol 165 1 2011 201 203
35. G. Michaelsson, E. Olsson, and P. Westermark The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis Acta Derm Venereol 61 6 1981 497 503
36. M.A. Van Steensel, N.G. Jaspers, and P.M. Steijlen A case of Rombo syndrome Br J Dermatol 144 6 2001 1215 1218
37. R. Ashinoff, M. Jacobson, and D.V. Belsito Rombo syndrome: a second case report and review J Am Acad Dermatol 28 6 1993 1011 1014
38. M.A. Ferguson-Smith, D.C. Wallace, Z.H. James, and J.H. Renwick Multiple self-healing squamous epithelioma Birth Defects Orig Artic Ser 7 8 1971 157 163
39. M.A. Ferguson-Smith, and D.R. Goudie Digenic/multilocus aetiology of multiple self-healing squamous epithelioma (Ferguson-Smith disease): TGFBR1 and a second linked locus Int J Biochem Cell Biol 53 2014 520 525
40. S. Broesby-Olsen, A. Bygum, A.-M. Gerdes, and F. Brandrup Multiple self-healing squamous epithelioma of Ferguson-Smith: observations in a Danish family covering four generations Acta Derm Venereol 88 1 2008 52 56
41. D.R. Goudie, M. D'Alessandro, B. Merriman, and et al. Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1 Nat Genet 43 4 2011 365 369
42. H.C. Kang, D.A. Quigley, I.-J. Kim, and et al. Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology J Invest Dermatol 133 7 2013 1907 1910
43. K.H. Chakrabarty, and A.G. Perks Ferguson-Smith syndrome: the importance of long term follow-up Br J Plast Surg 49 7 1996 497 498
44. L. Montoliu, K. Grønskov, A.-H. Wei, and et al. Increasing the complexity: new genes and new types of albinism Pigment Cell Melanoma Res 27 1 2014 11 18
45. O. Urtatiz, D. Sanabria, and M.C. Lattig Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America J Dermatol Sci 76 3 2014 260 262
46. K. Grønskov, J. Ek, and K. Brondum-Nielsen Oculocutaneous albinism Orphanet J Rare Dis 2 2007 43
47. C.G. Summers Albinism: classification, clinical characteristics, and recent findings Optom Vis Sci 86 6 2009 659 662
48. J. Luande, C.I. Henschke, and N. Mohammed The Tanzanian human albino skin. Natural history Cancer 55 8 1985 1823 1828
49. W.S. Oetting, and R.A. King Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism Hum Mutat 13 2 1999 99 115
50. S. Kannan, and H.W. Lim Photoprotection and vitamin D: a review Photodermatol Photoimmunol Photomed 30 2-3 2014 137 145
51. J. Feldstein, and S. Fernandez Garcia The diagnosis and treatment of dyskeratosis congenita: a review J Blood Med 5 2014 157
52. P.J. Mason, and M. Bessler The genetics of dyskeratosis congenita Cancer Genet 204 12 2011 635 645
53. C. Huriez, P. Agache, M. Bombart, and F. Souilliart [Spinocellular epitheliomas in congenital cutaneous atrophy in 2 families with high cancer morbidity] Bull Soc Fr Dermatol Syphiligr 70 1963 24 28
54. 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 1 2000 326 330
55. C. Guerriero, C. Albanesi, G. Girolomoni, and et al. Huriez syndrome: case report with a detailed analysis of skin dendritic cells Br J Dermatol 143 5 2000 1091 1096
56. V. Jairath, M. Mohan, S. Chandra, P. Kharge, and C. Fernendes Poikiloderma a varied presentation - Huriez syndrome Indian Dermatol Online J 6 1 2015 27
57. H. Hamm, H. Traupe, E.B. Bröcker, H. Schubert, and G. Kolde The scleroatrophic syndrome of Huriez: a cancer-prone genodermatosis Br J Dermatol 134 3 1996 512 518
58. B. Burger, and P.H. Itin Epidermodysplasia verruciformis Curr Probl Dermatol 45 2014 123 131
59. N. Ramoz, L.-A. Rueda, B. Bouadjar, L.-S. Montoya, G. Orth, and M. Favre Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis Nat Genet 32 4 2002 579 581
60. T. Kim, J.C. Park, M.R. Roh, and et al. Development of Aggressive Squamous Cell Carcinoma in Epidermodysplasia Verruciformis Associated with Human Papillomavirus Type 22b Dermatology 220 4 2010 326 328
61. L.L. Wang, A. Gannavarapu, C.A. Kozinetz, and et al. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome J Natl Cancer Inst 95 9 2003 669 674
62. L. Larizza, G. Roversi, and L. Volpi Rothmund-Thomson syndrome Orphanet J Rare Dis 5 2010 2
63. E.M. Vennos, and W.D. James Rothmund-Thomson syndrome Dermatol Clin 13 1 1995 143 150
64. H. Kaneko, T. Fukao, and N. Kondo The function of RecQ helicase gene family (especially BLM) in DNA recombination and joining Adv Biophys 38 2004 45 64
65. S.P. Cleary, W. Zhang, N. Di Nicola, and et al. Heterozygosity for the BLM(Ash) mutation and cancer risk Cancer Res 63 8 2003 1769 1771
66. H. Arora, A.H. Chacon, S. Choudhary, and et al. Bloom syndrome Int J Dermatol 53 7 2014 798 802
67. J. German, M.M. Sanz, S. Ciocci, T.Z. Ye, and N.A. Ellis Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry Hum Mutat 28 8 2007 743 753
68. E.R.A. Thomas, S. Shanley, L. Walker, and R. Eeles Surveillance and treatment of malignancy in Bloom syndrome Clin Oncol 20 5 2008 375 379
69. M. Sugimoto A cascade leading to premature aging phenotypes including abnormal tumor profiles in Werner syndrome (Review) Int J Mol Med 2013 Available from: http://www.spandidos-publications.com/10.3892/ijmm.2013.1592 Accessed February 28, 2015
70. M. Goto, K. Tanimoto, Y. Horiuchi, and T. Sasazuki Family analysis of Werner's syndrome: a survey of 42 Japanese families with a review of the literature Clin Genet 19 1 1981 8 15
71. K. Yamamoto, A. Imakiire, N. Miyagawa, and T. Kasahara A report of two cases of Werner's syndrome and review of the literature J Orthop Surg Hong Kong 11 2 2003 224 233
72. S.E. Aydin, S.S. Kilic, C. Aytekin, and et al. DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients J Clin Immunol 35 2 2015 1 10
73. E.Y. Chu, A.F. Freeman, H. Jing, and et al. Cutaneous manifestations of DOCK8 deficiency syndrome Arch Dermatol 148 1 2012 79 84
74. M.A. Spinner, L.A. Sanchez, A.P. Hsu, and et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity Blood 123 6 2014 809 821
75. D.C. Vinh, S.Y. Patel, G. Uzel, and et al. Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia Blood 115 8 2010 1519 1529
76. D.I. Kutler, B. Singh, J. Satagopan, and et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR) Blood 101 4 2003 1249 1256
77. J.-D. Fine, L. Bruckner-Tuderman, R.A. Eady, and et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification J Am Acad Dermatol 70 6 2014 1103 1126
78. J.-D. Fine, L.B. Johnson, M. Weiner, K.-P. Li, and C. Suchindran Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006 J Am Acad Dermatol 60 2 2009 203 211
79. R.H. Buckley, R.I. Schiff, S.E. Schiff, and et al. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants J Pediatr 130 3 1997 378 387
80. D.A. Wiginton, G.S. Adrian, R.L. Friedman, D.P. Suttle, and J.J. Hutton Cloning of cDNA sequences of human adenosine deaminase Proc Natl Acad Sci U S A 80 24 1983 7481 7485
81. M.S. Hershfield Genotype is an important determinant of phenotype in adenosine deaminase deficiency Curr Opin Immunol 15 5 2003 571 577
82. E. Grunebaum, A. Cohen, and C.M. Roifman Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies Curr Opin Allergy Clin Immunol 13 6 2013 630 638
83. C. Kesserwan, R. Sokolic, E.W. Cowen, and et al. Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency J Allergy Clin Immunol 129 3 2012 762 769.e1
84. V.D. Criscione, and M.A. Weinstock Descriptive epidemiology of dermatofibrosarcoma protuberans in the United States, 1973 to 2002 J Am Acad Dermatol 56 6 2007 968 973
85. R.A. Schwartz, and D.P. Torre The Muir-Torre syndrome: a 25-year retrospect J Am Acad Dermatol 33 1 1995 90 104
86. F. Bhaijee, and A.S. Brown Muir-Torre syndrome Arch Pathol Lab Med 138 12 2014 1685 1689
87. P. Machin, L. Catasus, C. Pons, and et al. Microsatellite instability and immunostaining for MSH-2 and MLH-1 in cutaneous and internal tumors from patients with the Muir-Torre syndrome J Cutan Pathol 29 7 2002 415 420
88. R. Kruse, A. Rütten, H.R. Hosseiny-Malayeri, and 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 116 3 2001 463 465
89. R. Kruse, A. Rütten, C. Lamberti, and 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 63 1 1998 63 70
90. S.N. Thibodeau, A.J. French, P.C. Roche, and et al. Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes Cancer Res 56 21 1996 4836 4840
91. P.R. Cohen, S.R. Kohn, and R. Kurzrock Association of sebaceous gland tumors and internal malignancy: the Muir-Torre syndrome Am J Med 90 5 1991 606 613
92. B. Somoano, K.B. Niendorf, and H. Tsao Hereditary cancer syndromes of the skin Clin Dermatol 23 2005 85 106