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Overview of familial syndromes with increased skin malignancies

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Abstract

The vast majority of skin cancers can be classified into two main types: melanoma and keratinocyte carcinomas. The most common keratinocyte carcinomas include basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). Multiple familial syndromes have been identified that can increase the risk of developing SCC, BCC, and/or melanoma. The major syndromes include oculocutaneous albinism for SCC, basal cell nevus syndrome for BCC, familial atypical multiple mole-melanoma syndrome, and hereditary breast and ovarian cancer syndrome for melanoma. In addition, familial syndromes that can predispose individuals to all three major skin cancers include xeroderma pigmentosum and Li–Fraumeni syndrome. This review highlights the epidemiology, risk factors, pathogenesis, and etiology of the major and minor syndromes to better identify and manage these conditions. Current investigational trials in genomic medicine are making their way in revolutionizing the clinical diagnosis of these familial syndromes for earlier preventative measures and improvement of long-term prognosis in these patients.

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Abbreviations

AD:

Autosomal dominant

AR:

Autosomal recessive

BAP1-TPDS:

BRCA-1-Associated protein-1 tumor predisposition syndrome

BCC:

Basal cell carcinoma

BCNS:

Basal cell nevus syndrome

DC:

Dyskeratosis congenita

EB:

Epidermolysis bullosa

EBM:

Epidermal basement membrane

EV:

Epidermodysplasia verruciformis

EVER1:

Epidermodysplasia verruciformis 1

FAMMM:

Familial atypical multiple mole-melanoma syndrome

HBOCS:

Hereditary breast and ovarian cancer syndrome

HPV:

Human papillomavirus

HSCT:

Hematopoietic stem cell transplant

JEB-H:

Junctional epidermolysis bullosa-type Herlitz

JEB-NH:

Junctional epidermolysis bullosa-type non-Herlitz

KC:

Keratinocyte carcinoma

LFS:

Li–Fraumeni syndrome

NER:

Nucleotide excision repair

NGS:

Next-generation sequencing

OCA:

Oculocutaneous albinism

POT1:

Protection of telomeres 1

RTS:

Rothmund–Thomson syndrome

SCC:

Squamous cell carcinoma

SHH:

Sonic Hedgehog

SMO:

Smoothened

TERT:

Telomerase reverse transcriptase

TYR:

Tyrosinase

WES:

Whole-exome sequencing

WGS:

Whole-genome sequencing

WS:

Werner syndrome

XP:

Xeroderma pigmentosum

References

  1. Gordon R (2013) Skin cancer: an overview of epidemiology and risk factors. Semin Oncol Nurs 29:160–169

    Article  PubMed  Google Scholar 

  2. Ma EZ, Zhou AE, Hoegler KM, Khachemoune A. Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues. Arch Dermatol Res. 2022;

  3. Sundararajan S, Thida AM, Badri T (2022) Metastatic melanoma. StatPearls [Internet]. StatPearls Publishing, Treasure Island

    Google Scholar 

  4. Basal & Squamous Cell Skin Cancer Statistics [Internet]. https://www.cancer.org/cancer/basal-and-squamous-cell-skin-cancer/about/key-statistics.html. Accessed 9 Sep 2021

  5. Wong CSM, Strange RC, Lear JT (2003) Basal cell carcinoma. BMJ 327:794–798

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Robinson JK, Dahiya M (2003) Basal cell carcinoma with pulmonary and lymph node metastasis causing death. Arch Dermatol 139:643–648

    Article  PubMed  Google Scholar 

  7. Melanoma Skin Cancer Statistics [Internet]. https://www.cancer.org/cancer/melanoma-skin-cancer/about/key-statistics.html. Accessed 9 Sep 2021

  8. Marzuka AG, Book SE (2015) Basal cell carcinoma: pathogenesis, epidemiology, clinical features, diagnosis, histopathology, and management. Yale J Biol Med 88:167–179

    PubMed  PubMed Central  Google Scholar 

  9. Gerstenblith MR, Goldstein AM, Tucker MA (2010) Hereditary genodermatoses with cancer predisposition. Hematol Oncol Clin North Am 24:885–906

    Article  PubMed  PubMed Central  Google Scholar 

  10. Schierbeck J, Vestergaard T, Bygum A (2019) Skin cancer associated genodermatoses: a literature review. Acta Derm Venereol 99:360–369

    Article  CAS  PubMed  Google Scholar 

  11. Grønskov K, Ek J, Brondum-Nielsen K (2007) Oculocutaneous albinism. Orphanet J Rare Dis 2:43

    Article  PubMed  PubMed Central  Google Scholar 

  12. [Mutations and polymorphisms of the P gene associated with oculocutaneous albinism type II] - PubMed [Internet]. https://pubmed.ncbi.nlm.nih.gov/16378950/. Accessed 10 Oct 2021

  13. Sundaresan P, Sil AK, Philp AR, Randolph MA, Natchiar G, Namperumalsamy P (2004) Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene. Mol Vis 10:1005–1010

    CAS  PubMed  Google Scholar 

  14. Duan H-L, Zheng H (2005) Li H-Y [Mutations and polymorphisms of the P gene associated with oculocutaneous albinism type II]. Yi Chuan 27:984–988

    CAS  PubMed  Google Scholar 

  15. Hawkes JE, Cassidy PB, Manga P, Boissy RE, Goldgar D, Cannon-Albright L et al (2013) Report of a novel OCA2 gene mutation and an investigation of two OCA2 variants on melanoma predisposition in a familial melanoma pedigree. J Dermatol Sci 69:30–37

    Article  CAS  PubMed  Google Scholar 

  16. TYRP1—an overview | ScienceDirect Topics [Internet]. https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/tyrp1. Accessed 10 Oct 2021

  17. Federico JR, Krishnamurthy K (2022) Albinism. StatPearls [Internet]. StatPearls Publishing, Treasure Island

    Google Scholar 

  18. Opara KO, Jiburum BC (2010) Skin cancers in albinos in a teaching Hospital in eastern Nigeria—presentation and challenges of care. World J Surg Onc 8:73

    Article  Google Scholar 

  19. Christophers AJ (1998) Melanoma is not caused by sunlight. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 422:113–117

    Article  CAS  PubMed  Google Scholar 

  20. Pfendner EG, Lucky AW (1993) Dystrophic epidermolysis bullosa. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Gripp KW et al (eds) GeneReviews® [Internet]. University of Washington, Seattle

    Google Scholar 

  21. Fine J-D (2016) Epidemiology of inherited epidermolysis bullosa based on incidence and prevalence estimates from the national epidermolysis bullosa registry. JAMA Dermatol 152:1231–1238

    Article  PubMed  Google Scholar 

  22. Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine J-D, Harper N, Has C et al (2020) Epidermolysis bullosa. Nat Rev Dis Primers 6:78

    Article  PubMed  Google Scholar 

  23. Ciubotaru D, Bergman R, Baty D, Indelman M, Pfendner E, Petronius D et al (2003) Epidermolysis bullosa simplex in Israel: clinical and genetic features. Arch Dermatol 139:498–505

    Article  CAS  PubMed  Google Scholar 

  24. Coulombe PA, Kerns ML, Fuchs E (2009) Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility. J Clin Invest 119:1784–1793

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  25. OMIM Entry - # 131900—epidermolysis bullosa simplex, generalized [Internet]. https://www.omim.org/entry/131900. Accessed 11 Oct 2021

  26. Shinkuma S (2015) Dystrophic epidermolysis bullosa: a review. Clin Cosmet Investig Dermatol 8:275–284

    Article  PubMed  PubMed Central  Google Scholar 

  27. Laimer M, Lanschuetzer CM, Diem A, Bauer JW (2010) Herlitz junctional epidermolysis bullosa. Dermatol Clin 28:55–60

    Article  CAS  PubMed  Google Scholar 

  28. Yancey KB, Hintner H (2010) Non-Herlitz junctional epidermolysis bullosa. Dermatol Clin 28:67–77

    Article  CAS  PubMed  Google Scholar 

  29. Nakano A, Chao S-C, Pulkkinen L, Murrell D, Bruckner-Tuderman L, Pfendner E et al (2002) Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. Hum Genet 110:41–51

    Article  CAS  PubMed  Google Scholar 

  30. Kivirikko S, McGrath JA, Pulkkinen L, Uitto J, Christiano AM (1996) Mutational hotspots in the LAMB3 gene in the Lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Mol Genet 5:231–237

    Article  CAS  PubMed  Google Scholar 

  31. Youssefian L, Vahidnezhad H, Uitto J (1993) Kindler syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Gripp KW et al (eds) GeneReviews® [Internet]. University of Washington, Seattle

    Google Scholar 

  32. Lai-Cheong JE, McGrath JA (2010) Kindler syndrome. Dermatol Clin 28:119–124

    Article  CAS  PubMed  Google Scholar 

  33. Jobard F, Bouadjar B, Caux F, Hadj-Rabia S, Has C, Matsuda F et al (2003) Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet 12:925–935

    Article  CAS  PubMed  Google Scholar 

  34. Has C, Castiglia D, del Rio M, Diez MG, Piccinni E, Kiritsi D et al (2011) Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat 32:1204–1212

    Article  CAS  PubMed  Google Scholar 

  35. Laimer M, Pohla-Gubo G, Diem A, Prodinger C, Bauer JW, Hintner H (2017) Epidermolysis bullosa House Austria and Epidermolysis bullosa clinical network. Wien Klin Wochenschr 129:1–7

    Article  PubMed  Google Scholar 

  36. Pfendner EG, Lucky AW (1993) Junctional epidermolysis bullosa. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Gripp KW et al (eds) GeneReviews® [Internet]. University of Washington, Seattle

    Google Scholar 

  37. Montaudié H, Chiaverini C, Sbidian E, Charlesworth A, Lacour J-P (2016) Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases. Orphanet J Rare Dis 11:117

    Article  PubMed  PubMed Central  Google Scholar 

  38. Hou P-C, Wang H-T, Abhee S, Tu W-T, McGrath JA, Hsu C-K (2021) Investigational treatments for epidermolysis bullosa. Am J Clin Dermatol 22:801–817

    Article  PubMed  Google Scholar 

  39. Pope E, Lara-Corrales I, Mellerio J, Martinez A, Schultz G, Burrell R et al (2012) A consensus approach to wound care in epidermolysis bullosa. J Am Acad Dermatol 67:904–917

    Article  PubMed  PubMed Central  Google Scholar 

  40. Burger B, Itin PH (2014) Epidermodysplasia verruciformis. Curr Probl Dermatol 45:123–131

    Article  CAS  PubMed  Google Scholar 

  41. Jaju PD, Ransohoff KJ, Tang JY, Sarin KY (2016) Familial skin cancer syndromes: increased risk of nonmelanotic skin cancers and extracutaneous tumors. J Am Acad Dermatol. 74:437–451 (quiz 452–4)

    Article  PubMed  Google Scholar 

  42. Zuo Y-G, Ma D, Zhang Y, Qiao J, Wang B (2006) Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis. J Dermatol Sci 44:153–159

    Article  CAS  PubMed  Google Scholar 

  43. Myers DJ, Kwan E, Fillman EP (2022) Epidermodysplasia verruciformis. StatPearls [Internet]. StatPearls Publishing, Treasure Island

    Google Scholar 

  44. Yoshida R, Kato T, Kawase M, Honda M, Mitsuishi T (2014) Two sisters reveal autosomal recessive inheritance of epidermodysplasia verruciformis: a case report. BMC Dermatol 14:12

    Article  PubMed  PubMed Central  Google Scholar 

  45. van Voorst Vader PC, de Jong MC, Blanken R, Kallenberg CG, Vermey A, Scheres JM (1987) Epidermodysplasia verruciformis: langerhans cells, immunologic effect of retinoid treatment and cytogenetics. Arch Dermatol Res 279:366–373

    Article  PubMed  Google Scholar 

  46. Goudie D (2020) Multiple self-healing squamous epithelioma (MSSE): a digenic trait associated with loss of function mutations in TGFBR1 and variants at a second linked locus on the long arm of chromosome 9. Genes (Basel) 11:1410

    Article  CAS  PubMed  Google Scholar 

  47. Kang HC, Quigley DA, Kim I-J, Wakabayashi Y, Ferguson-Smith MA, D’Alessandro M et al (2013) 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 133:1907–1910

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  48. Multiple self-healing squamous epithelioma [Internet]. http://documents.irevues.inist.fr/handle/2042/44572. Accessed 17 Oct 2021

  49. Lee Y-A, Stevens HP, Delaporte E, Wahn U, Reis A (2000) A gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez Syndrome) maps to chromosome 4q23. Am J Hum Genet 66:326–330

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  50. Günther C, Lee-Kirsch MA, Eckhard J, Matanovic A, Kerscher T, Rüschendorf F et al (2018) SMARCAD1 haploinsufficiency underlies Huriez syndrome and associated skin cancer susceptibility. J Invest Dermatol 138:1428–1431

    Article  PubMed  Google Scholar 

  51. Çelik NS, Yaşar Ş, Aytekin S, Güneş P (2018) A rare syndrome resembling scleroderma: Huriez syndrome. Skin Appendage Disord 4:82–85

    Article  PubMed  Google Scholar 

  52. Bhandari J, Thada PK, Puckett Y (2022) Fanconi anemia. StatPearls [Internet]. StatPearls Publishing, Treasure Island

    Google Scholar 

  53. Romick-Rosendale LE, Lui VWY, Grandis JR, Wells SI (2013) The fanconi anemia pathway: repairing the link between DNA damage and squamous cell carcinoma. Mutat Res. 0:78–88

    Article  CAS  PubMed Central  Google Scholar 

  54. Wang LL, Plon SE (1993) Rothmund-Thomson syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Gripp KW et al (eds) GeneReviews® [Internet]. University of Washington, Seattle

    Google Scholar 

  55. Sharma R, Lewis S, Wlodarski MW (2020) DNA repair syndromes and cancer: insights into genetics and phenotype patterns. Front Pediatr 8:570084

    Article  PubMed  PubMed Central  Google Scholar 

  56. Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K et al (2014) Bloom syndrome. Int J Dermatol 53:798–802

    Article  CAS  PubMed  Google Scholar 

  57. Hafsi W, Badri T, Rice AS (2022) Bloom syndrome. StatPearls [Internet]. StatPearls Publishing, Treasure Island

    Google Scholar 

  58. Cunniff C, Bassetti JA, Ellis NA (2017) Bloom’s syndrome: clinical spectrum, molecular pathogenesis, and cancer predisposition. Mol Syndromol 8:4–23

    Article  CAS  PubMed  Google Scholar 

  59. Oshima J, Sidorova JM, Monnat RJ (2017) Werner syndrome: clinical features, pathogenesis and potential therapeutic interventions. Ageing Res Rev 33:105–114

    Article  CAS  PubMed  Google Scholar 

  60. Savage SA, Alter BP (2009) Dyskeratosis congenita. Hematol Oncol Clin N Am 23:215–231

    Article  Google Scholar 

  61. Mason PJ, Bessler M (2011) The genetics of dyskeratosis congenita. Cancer Genet 204:635–645

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  62. Marrone A, Mason PJ (2003) Human genome and diseases: dyskeratosis congenita. CMLS Cell Mol Life Sci 60:507–517

    Article  CAS  PubMed  Google Scholar 

  63. Savage SA, Niewisch MR (1993) Dyskeratosis congenita and related telomere biology disorders. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Gripp KW et al (eds) GeneReviews® [Internet]. University of Washington, Seattle

    Google Scholar 

  64. Stoopler ET, Shanti RM (2019) Dyskeratosis congenita. Mayo Clin Proc 94:1668–1669

    Article  PubMed  Google Scholar 

  65. Ratnasamy V, Navaneethakrishnan S, Sirisena ND, Grüning N-M, Brandau O, Thirunavukarasu K et al (2018) Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report. BMC Med Genet 19:85

    Article  PubMed  PubMed Central  Google Scholar 

  66. Fernández García MS, Teruya-Feldstein J (2014) The diagnosis and treatment of dyskeratosis congenita: a review. J Blood Med 5:157–167

    PubMed  PubMed Central  Google Scholar 

  67. Santillan AA, Cherpelis BS, Glass LF, Sondak VK (2009) Management of familial melanoma and nonmelanoma skin cancer syndromes. Surg Oncol Clin N Am 18:73–98 (viii)

    Article  PubMed  Google Scholar 

  68. Fernández LT, Ocampo-Garza SS, Elizondo-Riojas G, Ocampo-Candiani J (2022) Basal cell nevus syndrome: an update on clinical findings. Int J Dermatol. https://doi.org/10.1111/ijd.15884

    Article  PubMed  PubMed Central  Google Scholar 

  69. Athar M, Li C, Kim AL, Spiegelman VS, Bickers DR (2014) Sonic hedgehog signaling in Basal cell nevus syndrome. Cancer Res 74:4967–4975

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  70. Witmanowski H, Szychta P, Błochowiak K, Jundziłł A, Czajkowski R (2017) Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment. Postepy Dermatol Alergol 34:381–387

    Article  PubMed  PubMed Central  Google Scholar 

  71. Crowson AN (2006) Basal cell carcinoma: biology, morphology and clinical implications. Mod Pathol 19:S127–S147

    Article  PubMed  Google Scholar 

  72. John AM, Schwartz RA (2016) Basal cell naevus syndrome: an update on genetics and treatment. Br J Dermatol 174:68–76

    Article  CAS  PubMed  Google Scholar 

  73. Pulickal JK, Kaliyadan F (2022) Acrokeratosis paraneoplastica. StatPearls [Internet]. StatPearls Publishing, Treasure Island

    Google Scholar 

  74. Park H-S, Papanastasi E, Blanchard G, Chiticariu E, Bachmann D, Plomann M et al (2021) ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies. Commun Biol 4:1–13

    Article  Google Scholar 

  75. Castori M, Castiglia D, Passarelli F, Paradisi M (2009) Bazex-Dupré-Christol syndrome: an ectodermal dysplasia with skin appendage neoplasms. Eur J Med Genet 52:250–255

    Article  PubMed  Google Scholar 

  76. Dourmishev LA, Rusinova D, Botev I (2013) Clinical variants, stages, and management of basal cell carcinoma. Indian Dermatol Online J 4:12–17

    Article  PubMed  PubMed Central  Google Scholar 

  77. Räßler F, Goetze S, Elsner P (2017) Acrokeratosis paraneoplastica (Bazex syndrome) - a systematic review on risk factors, diagnosis, prognosis and management. J Eur Acad Dermatol Venereol 31:1119–1136

    Article  PubMed  Google Scholar 

  78. Zhou AE, Hoegler KM, Solimine JF (2021) Genetic counseling and testing for hereditary causes of melanoma can lead to earlier detection of skin cancer and other malignancies. Int J Dermatol ijd 15716. https://doi.org/10.1111/ijd.15716

  79. Eckerle Mize D, Bishop M, Resse E, Sluzevich J (2022) Familial atypical multiple mole melanoma syndrome. In: Riegert-Johnson DL, Boardman LA, Hefferon T, Roberts M (eds) Cancer syndromes [Internet]. National Center for Biotechnology Information, Bethesda

    Google Scholar 

  80. Soura E, Eliades PJ, Shannon K, Stratigos AJ, Tsao H (2016) Hereditary melanoma: Update on syndromes and management: genetics of familial atypical multiple mole melanoma syndrome. J Am Acad Dermatol. 74:395–407 (quiz 408–10)

    Article  PubMed  PubMed Central  Google Scholar 

  81. Silva JH, de Sá BCS, de Ávila ALR, Landman G, Neto JPD (2011) Atypical mole syndrome and dysplastic nevi: identification of populations at risk for developing melanoma—review article. Clinics (Sao Paulo) 66:493–499

    Article  PubMed  Google Scholar 

  82. Bonadies DC, Bale AE (2011) Hereditary melanoma. Curr Probl Cancer 35:162–172

    Article  PubMed  Google Scholar 

  83. Petrucelli N, Daly MB, Pal T (1993) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Gripp KW et al (eds) GeneReviews® [Internet]. University of Washington, Seattle

    Google Scholar 

  84. Riaz N, Blecua P, Lim RS, Shen R, Higginson DS, Weinhold N et al (2017) Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes. Nat Commun 8:857

    Article  PubMed  PubMed Central  Google Scholar 

  85. Gumaste PV, Penn LA, Cymerman RM, Kirchhoff T, Polsky D, McLellan B (2015) Skin cancer risk in BRCA1/2 mutation carriers. Br J Dermatol 172:1498–1506

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  86. Breast Cancer Linkage Consortium (1999) Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 91:1310–1316

    Article  Google Scholar 

  87. Daly MB, Pal T, Berry MP, Buys SS, Dickson P, Domchek SM et al (2021) Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Comprehensive Cancer Netw 19:77–102

    Article  CAS  Google Scholar 

  88. Davis LE, Shalin SC, Tackett AJ (2019) Current state of melanoma diagnosis and treatment. Cancer Biol Ther 20:1366–1379

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  89. Rai K, Pilarski R, Cebulla CM, Abdel-Rahman MH (2016) Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. Clin Genet 89:285–294

    Article  CAS  PubMed  Google Scholar 

  90. Carbone M, Ferris LK, Baumann F, Napolitano A, Lum CA, Flores EG et al (2012) BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. J Transl Med 10:179

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  91. Pilarski R, Carlo MI, Cebulla C, Abdel-Rahman M (1993) BAP1 tumor predisposition syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Gripp KW et al (eds) GeneReviews® [Internet]. University of Washington, Seattle (WA)

    Google Scholar 

  92. Black JO (2016) Xeroderma pigmentosum. Head Neck Pathol 10:139–144

    Article  PubMed  PubMed Central  Google Scholar 

  93. Kraemer KH, DiGiovanna JJ, Tamura D (1993) Xeroderma pigmentosum. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Gripp KW et al (eds) GeneReviews® [Internet]. University of Washington, Seattle

    Google Scholar 

  94. Lucero R, Horowitz D (2022) Xeroderma pigmentosum. StatPearls [Internet]. StatPearls Publishing, Treasure Island

    Google Scholar 

  95. Halpern J, Hopping B, Brostoff JM (2008) Photosensitivity, corneal scarring and developmental delay: xeroderma pigmentosum in a tropical country. Cases J 1:254

    Article  PubMed  PubMed Central  Google Scholar 

  96. Bradford PT, Goldstein AM, Tamura D, Khan SG, Ueda T, Boyle J et al (2011) Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterizes the role of dna repair. J Med Genet 48:168–176

    Article  PubMed  Google Scholar 

  97. Chompret A (2002) The Li-Fraumeni syndrome. Biochimie 84:75–82

    Article  CAS  PubMed  Google Scholar 

  98. Nieuwenburg SA, Adan F, Ruijs MWG, Sonke GS, van Leerdam ME, Crijns MB (2020) Cumulative risk of skin cancer in patients with Li-Fraumeni syndrome. Fam Cancer 19:347–351

    Article  CAS  PubMed  Google Scholar 

  99. Schneider K, Zelley K, Nichols KE, Garber J (1993) Li-Fraumeni Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Gripp KW et al (eds) GeneReviews® [Internet]. University of Washington, Seattle

    Google Scholar 

  100. Hatton JN, Sargen MR, Frone MN, de Andrade KC, Savage SA, Khincha PP (2022) Spectrum and incidence of skin cancer among individuals with Li-Fraumeni syndrome. J Invest Dermatol 142:2534-2537.e1. https://doi.org/10.1016/j.jid.2022.02.004

    Article  CAS  PubMed  Google Scholar 

  101. Chiu FP-C, Doolan BJ, McGrath JA, Onoufriadis A (2021) A decade of next-generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics. Br J Dermatol 184:606–616

    Article  CAS  PubMed  Google Scholar 

  102. Sarkar T, Sarkar S, Gangopadhyay DN (2020) Gene therapy and its application in dermatology. Indian J Dermatol 65:341–350

    Article  PubMed  PubMed Central  Google Scholar 

  103. Baker C, Hayden MS (2020) Gene editing in dermatology: Harnessing CRISPR for the treatment of cutaneous disease. F1000Res 9:281

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Virginia Commonwealth University School of Medicine, Richmond, VA, USA

    Hui Yu Juan

  2. Department of Dermatology, University of Maryland School of Medicine, Baltimore, MD, USA

    Albert E. Zhou & Karl M. Hoegler

  3. Brooklyn Campus of the VA NY Harbor Healthcare System, 800 Poly Place, Brooklyn, NY, 11209, USA

    Amor Khachemoune

  4. Department of Dermatology, SUNY Downstate, 450 Clarkson Ave, Brooklyn, NY, USA

    Amor Khachemoune

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  1. Hui Yu Juan
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  2. Albert E. Zhou
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  4. Amor Khachemoune
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The authors’ contributions are as follows: AK has given idea proposal; HYJ done literature search; HYJ, AEZ, KMH, and AK contributed to draft and critical revision.

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Correspondence to Amor Khachemoune.

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Juan, H.Y., Zhou, A.E., Hoegler, K.M. et al. Overview of familial syndromes with increased skin malignancies. Arch Dermatol Res 315, 707–727 (2023). https://doi.org/10.1007/s00403-022-02447-8

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