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Pediatric Cutaneous Oncology

Genodermatoses and Cancer Syndromes
  • Jackson G. Turbeville
    Affiliations
    Department of Dermatology, Mayo Clinic – Rochester, 200 1st Street SW, Rochester, MN 55905, USA
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  • Jennifer L. Hand
    Correspondence
    Corresponding author. Department of Dermatology, Mayo Clinic – Rochester, 200 1st Street Southwest; Rochester, MN 55905.
    Affiliations
    Department of Dermatology, Mayo Clinic – Rochester, 200 1st Street SW, Rochester, MN 55905, USA

    Department of Clinical Genomics, Mayo Clinic – Rochester, 200 1st Street SW, Rochester, MN 55905, USA

    Department of Pediatric and Adolescent Medicine, Mayo Clinic – Rochester, 200 1st Street SW, Rochester, MN 55905, USA
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Published:October 27, 2022DOI:https://doi.org/10.1016/j.det.2022.07.013

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      References

        • Ladd R.
        • Davis M.
        • Dyer J.A.
        Genodermatoses with malignant potential.
        Clin Dermatol. 2020; 38: 432-454
        • Zocchi L.
        • Lontano A.
        • Merli M.
        • et al.
        Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Aspect, Associated Malignancies and Practical tips for Management.
        J Clin Med. 2021; 10: 3760
        • Rodriguez J.L.
        • Thomas C.C.
        • Massetti G.M.
        • et al.
        CDC Grand Rounds: Family History and Genomics as Tools for Cancer Prevention and Control.
        MMWR. 2016; 65: 1291-1294
        • Leachman S.A.
        • Lucero O.M.
        • Sampson J.E.
        • et al.
        Identification, genetic testing and management of hereditary melanoma.
        Cancer Metastasis Rev. 2017; 36: 77-90
        • Soura E.
        • Eliades P.
        • Shannon K.
        • et al.
        Hereditary Melanoma: Update on Syndromes and Management-Emerging melanoma cancer complexes and genetic counseling.
        JAAD. 2016; 74: 411-420
        • Hosoya A.
        • Shalehin N.
        • Takebe H.
        • et al.
        Sonic Hedgehog Signaling and Tooth Development.
        Int J Mol Sci. 2020; 21: 1587
        • Griner D.
        • Sutphin D.
        • Sargent L.A.
        Surgical Management of Gorlin Syndrome: A 4-Decade Experience Using Local Excision Technique.
        Ann Plast Surg. 2015; 74: 467-470
        • Athar M.
        • Li C.
        • Kim A.L.
        • et al.
        Sonic hedgehog signaling in Basal cell nevus syndrome.
        Cancer Res. 2014; 74: 4967-4975
        • Lear J.T.
        • Migden M.R.
        • Lewis K.D.
        • et al.
        Long-Term Efficacy and Safety of Sonidegib in Patients with Locally Advanced and Metastatic Basal Cell Carcinoma: 30-Month Analysis of the Randomized Phase 2 BOLT Study.
        J Eur Acad Dermatol Venereol. 2018; 32: 372-381
        • Taylor W.B.
        Rothmund's syndrome-Thomson syndrome.
        Arch Dermatol. 1957; 75: 236-244
        • Rothmund A.
        Uber Cataracte in Verbindung mit einer eigenthuemlichen Hautdegeneration.
        Albrecht von Graefes Arch Klin Exp Ophthal. 1868; 14: 159-182
        • Thomson M.S.
        Poikiloderma congenitale.
        Br J Dermatol. 1936; 48: 221-234
        • Ajeawung N.F.
        • Nguyen T.T.M.
        • Lu L.
        • et al.
        Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
        Am J Hum Genet. 2019; 105: 625-630
        • Wang L.L.
        • Gannavarapu A.
        • Kozinetz C.A.
        • et al.
        Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
        J Natl Cancer Inst. 2003; 95: 669-674
        • Wang L.L.
        • Plon S.E.
        Rothmund-Thomson Syndrome.
        in: Adam M.P. Ardinger H.H. Pagon R.A. GeneReviews® [Internet]. University of Washington, Seattle; 1993-2022, Seattle (WA)1999 (Available at:)
        • Wang L.L.
        • Levy M.L.
        • Lewis R.A.
        • et al.
        Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.
        Am J Med Genet. 2001; 102 (PMID: 11471165): 11-17
        • Howell S.M.
        • Bray D.W.
        Amelanotic melanoma in a patient with Rothmund-Thomson syndrome.
        Arch Dermatol. 2008; 144: 416-417
        • Borg M.F.
        • Olver I.N.
        • Hill M.P.
        Rothmund-Thomson syndrome and tolerance of chemoradiotherapy.
        Australas Radiol. 1998; 42: 216-218
        • Hebra F.
        • Kaposi M.
        Xeroderma, parchment skin. In On diseases of the skin including exanthemata. Volume III.
        New Syndenham Soc. 1874; 61: 252-258
        • Cleaver J.E.
        Defective repair replication of DNA in xeroderma pigmentosum. 1968.
        DNA Repair (Amst). 2004; 3 (PMID: 15344228): 183-187
        • Robbins J.H.
        • Kraemer K.H.
        • Lutzner M.A.
        • et al.
        Xeroderma pigmentosum: an inherited disease with sun-sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.
        Ann Intern Med. 1974; 80: 221-248
        • Hirai Y.
        • Kodama Y.
        • Moriwaki S.
        • et al.
        Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population.
        Mutat Res. 2006; 601: 171-178
        • Tang J.
        • Chu G.
        Xeroderma pigmentosum complementation group E and UV-damaged DNA-binding protein.
        DNA repair. 2002; 1: 601-616
        • Yuasa M.
        • Masutani C.
        • Eki T.
        • et al.
        Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene.
        Oncogene. 2000; 19: 4721-4728
        • Masutani C.
        • Kusumoto R.
        • Yamada A.
        • et al.
        The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.
        Nature. 1999; 399: 700-704
        • Jaju P.D.
        • Ransohoff K.J.
        • Tang J.Y.
        • et al.
        Familial skin cancer syndromes:increased risk of nonmelanotic skin cancers and extracutaneous tumors.
        J Amacad Dermatol. 2016; 74 (quiz 452– 434): 437-451
        • Lehmann A.R.
        • McGibbon D.
        • Stefanini M.
        Xeroderma pigmentosum.
        Orphanetj Rare Dis. 2011; 6: 70
        • Shah J.
        Atlas of clinical Oncology: cancer of the head and neck.
        1st ed. Decker, Hamilton, Ontario2001
        • Sethi M.
        • Lehmann A.R.
        • Fawcett H.
        • et al.
        Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions.
        Br J Dermatol. 2013; 169: 1279-1287
        • Kuwabara A.
        • Tsugawa N.
        • Tanaka K.
        • et al.
        High prevalence of vitamin D deficiency in patients with xeroderma pigmetosum-A under strict sun protection.
        Eur J Clin Nutr. 2015; 69 (PMID: 25669318): 693-696
        • Zghal M.
        • Triki S.
        • Elloumi-Jellouli A.
        • et al.
        'apport de la cryochirurgie dans la prise en charge du xeroderma pigmentosum [Contribution of the cryosurgery in the management of xeroderma pigmentosum].
        Ann Dermatol Venereol. 2010; 137: 605-609
        • Lambert W.C.
        • Lambert M.W.
        Development of effective skin cancer treatment and prevention in xeroderma pigmentosum.
        Photochem Photobiol. 2015; 91 (Epub 2015 Feb 6. PMID: 25382223): 475-483
        • Grønskov K.
        • Ek J.
        • Brondum-Nielsen K.
        Oculocutaneous albinism.
        Orphanet J Rare Dis. 2007; 2: 43
        • Urtatiz O.
        • Sanabria D.
        • Lattig M.C.
        Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America.
        J Dermatol Sci. 2014; 76: 260-262
        • Marçon C.R.
        • Maia M.
        Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors.
        An Bras Dermatol. 2019; 94: 503-520
        • Montoliu L.
        • Grønskov K.
        • Wei A.H.
        • et al.
        Increasing the complexity: new genes and new types of albinism.
        Pigment Cell Melanoma Res. 2014; 27 (Epub 2013 Oct 17. PMID: 24066960): 11-18
        • Kausar T.
        • Bhatti M.A.
        • Ali M.
        • et al.
        OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24.
        Clin Genet. 2013; 84: 91
        • Wei A.H.
        • Zang D.J.
        • Zhang Z.
        • et al.
        Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
        J Invest Dermatol. 2013; 133: 1834
        • Grønskov K.
        • Dooley C.M.
        • Østergaard E.
        • et al.
        Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.
        Am J Hum Genet. 2013; 92: 415
        • Pennamen P.
        • Tingaud-Sequeira A.
        • Gazova I.
        • et al.
        Dopachrome tautomerase variants in patients with oculocutaneous albinism.
        Genet Med. 2021; 23: 479
        • Witkop C.J.
        Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism.
        Ala J Med Sci. 1979; 16 (PMID: 546241): 327-330
        • King R.A.
        • Pietsch J.
        • Fryer J.R.
        • et al.
        Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.
        Hum Genet. 2003; 113: 502-513
        • Winsor C.N.
        • Holleschau A.M.
        • Connett J.E.
        • et al.
        A cross-sectional examination of visual acuity by specific type of albinism.
        J AAPOS. 2016; 20: 419-424
        • Oetting W.S.
        • King R.A.
        Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
        Hum Mutat. 1999; 13: 99-115
        • Kiprono S.K.
        • Chaula B.M.
        • Beltraminelli H.
        Histological review of skin cancers in African Albinos: a 10-year retrospective review.
        BMC Cancer. 2014; 14 (PMID: 24597988; PMCID: PMC3975641): 157
        • Ruiz-Sanchez D.
        • Garabito Solovera E.L.
        • Valtueña J.
        • et al.
        Amelanotic melanoma in a patient with oculocutaneous albinism.
        Dermatol Online J. 2020; 26 (qt2gv5w93x. PMID: 32621707): 13030
        • Moreno-Artero E.
        • Morice-Picard F.
        • Bremond-Gignac D.
        • et al.
        Management of albinism: French guidelines for diagnosis and care.
        J Eur Acad Dermatol Venereol. 2021; 35 (Epub 2021 May 27. PMID: 34042219): 1449-1459
        • Ramos A.N.
        • Fraga-Braghiroli N.
        • Ramos J.G.R.
        • et al.
        Dermoscopy of naevi in patients with oculocutaneous albinism.
        Clin Exp Dermatol. 2019; 44 (Epub 2019 Jan 17. PMID: 30656729): e196-e199
        • De Luca D.A.
        • Bollea Garlatti L.A.
        • Galimberti G.N.
        • et al.
        Amelanotic melanoma in albinism: the power of dermatoscopy.
        J Eur Acad Dermatol Venereol. 2016; 30 (Epub 2015 Aug 20. PMID: 26290313): 1422-1423
        • Win A.K.
        • Jenkins M.A.
        • Dowty J.G.
        • et al.
        Prevalence and penetrance of major genes and polygenes for colorectal cancer.
        Cancer Epidemiol Biomarkers Prev. 2017; 26: 404-412
        • Moreira L.
        • Balaguer F.
        • Lindor N.
        • et al.
        • EPICOLON Consortium
        Identification of Lynch syndrome among patients with colorectal cancer.
        JAMA. 2012; 308: 1555-1565
        • Møller P.
        • Seppälä T.
        • Bernstein I.
        • et al.
        • Mallorca Group
        Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database.
        Gut. 2017; 66 (Epub 2015 Dec 9. PMID: 26657901; PMCID: PMC5534760): 464-472
        • Le S.
        • Ansari U.
        • Mumtaz A.
        • et al.
        Lynch Syndrome and Muir-Torre Syndrome: An update and review on the genetics, epidemiology, and management of two related disorders.
        Dermatol Online J. 2017; 23 (qt8sg5w98j. PMID: 29447627): 13030
        • Ponti G.
        • Pellacani G.
        • Seidenari S.
        • et al.
        Cancer-associated genodermatoses: skin neoplasms as clues to hereditary tumor syndromes.
        Crit Rev Oncol Hematol. 2013; 85 (Epub 2012 Jul 21. PMID: 22823951): 239-256
        • Mahalingam M.
        MSH6, Past and Present and Muir-Torre Syndrome-Connecting the Dots.
        Am J Dermatopathol. 2017; 39 (PMID: 28323777): 239-249
        • Ponti G.
        • Ponz de Leon M.
        Muir-Torre syndrome.
        Lancet Oncol. 2005; 6: 980-987
        • Ponti G.
        • Losi L.
        • Di Gregorio C.
        • et al.
        Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry.
        Cancer. 2005; 103 (PMID: 15662714): 1018-1025
        • Abbas O.
        • Mahalingam M.
        Cutaneous sebaceous neoplasms as markers of Muir-Torre syndrome: a diagnostic algorithm.
        J Cutan Pathol. 2009; 36: 613-619
        • Singh R.S.
        • Grayson W.
        • Redston M.
        • et al.
        Site and tumor type predicts DNA mismatch repair status in cutaneous sebaceous neoplasia.
        Am J Surg Pathol. 2008; 32 (PMID: 18551751): 936-942
        • Liu-Smith F.
        • Jia J.
        • Zheng Y.
        UV-Induced Molecular Signaling Differences in Melanoma and Non-melanoma Skin Cancer.
        Adv Exp Med Biol. 2017; 996: 27-40
        • Schon K.
        • Rytina E.
        • Drummond J.
        Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting.
        Clin Exp Derm. 2018; 43: 410-415
        • Hou J.L.
        • Killian J.M.
        • Baum C.L.
        • et al.
        Characteristics of sebaceous carcinoma and early outcomes of treatment using Mohs micrographic surgery versus wide local excision: an update of the Mayo Clinic experience over the past 2 decades.
        Dermatol Surg. 2014; 40 (Epub 2014 Jan 25. PMID: 24460730): 241-246
        • Owen J.L.
        • Kibbi N.
        • Worley B.
        • et al.
        Sebaceous carcinoma: evidence-based clinical practice guidelines.
        Lancet Oncol. 2019; 20: e699-e714
        • Aronson M.
        • Colas C.
        • Shuen A.
        • et al.
        Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.
        J Med Genet. 2022; 59: 318-327
        • Ricciardone M.D.
        • Ozcelik T.
        • Cevher B.
        • et al.
        Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.
        Cancer Res. 1999; 59: 290-293
        • Wang Q.
        • Lasset C.
        • Desseigne F.
        • et al.
        Neurofibromatosis and early onset of cancers in hMLH1-deficient children.
        Cancer Res. 1999; 59: 294-297
        • Wimmer K.
        • Kratz C.P.
        • Vasen H.F.A.
        • et al.
        Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD).
        J Med Genet. 2014; 51: 355-365
        • Lavoine N.
        • Colas C.
        • Muleris M.
        • et al.
        Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
        J Med Genet. 2015; 52 (Epub 2015 Aug 28. PMID: 26318770): 770-778
        • Özyörük D.
        • Cabı E.Ü.
        • Taçyıldız N.
        • et al.
        Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature.
        Turk J Pediatr. 2021; 63 (PMID: 34738371): 893-902
        • Walpole S.
        • Pritchard A.L.
        • Cebulla C.M.
        • et al.
        Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
        JNCI. 2018; 110: 1328-1341
        • Zhang A.J.
        • Rush P.S.
        • Tsao H.
        • et al.
        BRCA1-associated protein (BAP1)-inactivated melanocytic tumors.
        J Cutan Pathol. 2019; 46: 965-972
        • Yélamos O.
        • Navarrete-Dechent C.
        • Marchetti M.A.
        • et al.
        Clinical and dermoscopic features of cutaneous BAP1-inactivated melanocytic tumors: Results of a multicenter case-control study by the International Dermoscopy Society.
        J Am Acad Dermatol. 2019; 80: 1585-1593
        • Cabaret O.
        • Perron E.
        • Bressac-de Paillerets B.
        • et al.
        Occurrence of BAP1 germline mutations in cutaneous melanocytic tumors with loss of BAP1-expression: a pilot study.
        Genes Chromosomes Cancer. 2017; 56: 691-694
        • Rai K.
        • Pilarski R.
        • Cebulla C.M.
        • et al.
        Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases.
        Clin Genet. 2016; 89 (Epub 2015 Jul 14. PMID: 26096145; PMCID: PMC4688243): 285-294
        • Casula M.
        • Paliogiannis P.
        • Ayala F.
        • et al.
        Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.
        BMC Cancer. 2019; 19: 772
        • Abdo J.F.
        • Sharma A.
        • Sharma R.
        Role of Heredity in Melanoma Susceptibility: A Primer for the Practicing Surgeon.
        Surg Clin N Am. 2020; 100