Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribers receive full online access to your subscription and archive of back issues up to and including 2002.
Content published before 2002 is available via pay-per-view purchase only.
Subscribe:
Subscribe to Dermatologic ClinicsAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Genodermatoses with malignant potential.Clin Dermatol. 2020; 38: 432-454
- 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
- CDC Grand Rounds: Family History and Genomics as Tools for Cancer Prevention and Control.MMWR. 2016; 65: 1291-1294
- Identification, genetic testing and management of hereditary melanoma.Cancer Metastasis Rev. 2017; 36: 77-90
- Hereditary Melanoma: Update on Syndromes and Management-Emerging melanoma cancer complexes and genetic counseling.JAAD. 2016; 74: 411-420
- Sonic Hedgehog Signaling and Tooth Development.Int J Mol Sci. 2020; 21: 1587
- Surgical Management of Gorlin Syndrome: A 4-Decade Experience Using Local Excision Technique.Ann Plast Surg. 2015; 74: 467-470
- Sonic hedgehog signaling in Basal cell nevus syndrome.Cancer Res. 2014; 74: 4967-4975
- 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
- Rothmund's syndrome-Thomson syndrome.Arch Dermatol. 1957; 75: 236-244
- Uber Cataracte in Verbindung mit einer eigenthuemlichen Hautdegeneration.Albrecht von Graefes Arch Klin Exp Ophthal. 1868; 14: 159-182
- Poikiloderma congenitale.Br J Dermatol. 1936; 48: 221-234
- 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
- Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.J Natl Cancer Inst. 2003; 95: 669-674
- 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:)
- Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.Am J Med Genet. 2001; 102 (PMID: 11471165): 11-17
- Amelanotic melanoma in a patient with Rothmund-Thomson syndrome.Arch Dermatol. 2008; 144: 416-417
- Rothmund-Thomson syndrome and tolerance of chemoradiotherapy.Australas Radiol. 1998; 42: 216-218
- Xeroderma, parchment skin. In On diseases of the skin including exanthemata. Volume III.New Syndenham Soc. 1874; 61: 252-258
- Defective repair replication of DNA in xeroderma pigmentosum. 1968.DNA Repair (Amst). 2004; 3 (PMID: 15344228): 183-187
- Xeroderma pigmentosum: an inherited disease with sun-sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.Ann Intern Med. 1974; 80: 221-248
- 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
- Xeroderma pigmentosum complementation group E and UV-damaged DNA-binding protein.DNA repair. 2002; 1: 601-616
- Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene.Oncogene. 2000; 19: 4721-4728
- The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.Nature. 1999; 399: 700-704
- Familial skin cancer syndromes:increased risk of nonmelanotic skin cancers and extracutaneous tumors.J Amacad Dermatol. 2016; 74 (quiz 452– 434): 437-451
- Xeroderma pigmentosum.Orphanetj Rare Dis. 2011; 6: 70
- Atlas of clinical Oncology: cancer of the head and neck.1st ed. Decker, Hamilton, Ontario2001
- Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions.Br J Dermatol. 2013; 169: 1279-1287
- 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
- '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
- Development of effective skin cancer treatment and prevention in xeroderma pigmentosum.Photochem Photobiol. 2015; 91 (Epub 2015 Feb 6. PMID: 25382223): 475-483
- Oculocutaneous albinism.Orphanet J Rare Dis. 2007; 2: 43
- Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America.J Dermatol Sci. 2014; 76: 260-262
- Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors.An Bras Dermatol. 2019; 94: 503-520
- Increasing the complexity: new genes and new types of albinism.Pigment Cell Melanoma Res. 2014; 27 (Epub 2013 Oct 17. PMID: 24066960): 11-18
- OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24.Clin Genet. 2013; 84: 91
- Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.J Invest Dermatol. 2013; 133: 1834
- Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.Am J Hum Genet. 2013; 92: 415
- Dopachrome tautomerase variants in patients with oculocutaneous albinism.Genet Med. 2021; 23: 479
- 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
- Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.Hum Genet. 2003; 113: 502-513
- A cross-sectional examination of visual acuity by specific type of albinism.J AAPOS. 2016; 20: 419-424
- Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.Hum Mutat. 1999; 13: 99-115
- Histological review of skin cancers in African Albinos: a 10-year retrospective review.BMC Cancer. 2014; 14 (PMID: 24597988; PMCID: PMC3975641): 157
- Amelanotic melanoma in a patient with oculocutaneous albinism.Dermatol Online J. 2020; 26 (qt2gv5w93x. PMID: 32621707): 13030
- Management of albinism: French guidelines for diagnosis and care.J Eur Acad Dermatol Venereol. 2021; 35 (Epub 2021 May 27. PMID: 34042219): 1449-1459
- Dermoscopy of naevi in patients with oculocutaneous albinism.Clin Exp Dermatol. 2019; 44 (Epub 2019 Jan 17. PMID: 30656729): e196-e199
- Amelanotic melanoma in albinism: the power of dermatoscopy.J Eur Acad Dermatol Venereol. 2016; 30 (Epub 2015 Aug 20. PMID: 26290313): 1422-1423
- Prevalence and penetrance of major genes and polygenes for colorectal cancer.Cancer Epidemiol Biomarkers Prev. 2017; 26: 404-412
- Identification of Lynch syndrome among patients with colorectal cancer.JAMA. 2012; 308: 1555-1565
- 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
- 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
- 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
- MSH6, Past and Present and Muir-Torre Syndrome-Connecting the Dots.Am J Dermatopathol. 2017; 39 (PMID: 28323777): 239-249
- Muir-Torre syndrome.Lancet Oncol. 2005; 6: 980-987
- 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
- Cutaneous sebaceous neoplasms as markers of Muir-Torre syndrome: a diagnostic algorithm.J Cutan Pathol. 2009; 36: 613-619
- Site and tumor type predicts DNA mismatch repair status in cutaneous sebaceous neoplasia.Am J Surg Pathol. 2008; 32 (PMID: 18551751): 936-942
- UV-Induced Molecular Signaling Differences in Melanoma and Non-melanoma Skin Cancer.Adv Exp Med Biol. 2017; 996: 27-40
- Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting.Clin Exp Derm. 2018; 43: 410-415
- 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
- Sebaceous carcinoma: evidence-based clinical practice guidelines.Lancet Oncol. 2019; 20: e699-e714
- Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.J Med Genet. 2022; 59: 318-327
- Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.Cancer Res. 1999; 59: 290-293
- Neurofibromatosis and early onset of cancers in hMLH1-deficient children.Cancer Res. 1999; 59: 294-297
- Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD).J Med Genet. 2014; 51: 355-365
- Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.J Med Genet. 2015; 52 (Epub 2015 Aug 28. PMID: 26318770): 770-778
- 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
- Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.JNCI. 2018; 110: 1328-1341
- BRCA1-associated protein (BAP1)-inactivated melanocytic tumors.J Cutan Pathol. 2019; 46: 965-972
- 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
- Occurrence of BAP1 germline mutations in cutaneous melanocytic tumors with loss of BAP1-expression: a pilot study.Genes Chromosomes Cancer. 2017; 56: 691-694
- 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
- Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.BMC Cancer. 2019; 19: 772
- Role of Heredity in Melanoma Susceptibility: A Primer for the Practicing Surgeon.Surg Clin N Am. 2020; 100
Article info
Publication history
Published online: October 27, 2022
Identification
Copyright
© 2022 Elsevier Inc. All rights reserved.