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Skin cancer-associated genodermatoses in skin of color patients: a review

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Abstract

Skin cancers are associated with a large number of genodermatoses. Existing knowledge and guidelines on the presentations of these genodermatoses focus disproportionately on White patients. Our goal is to identify notable characteristics in location, frequency, and severity of cutaneous findings along with the median age of skin cancers in skin-of-color (SOC) patients with skin-cancer-associated genodermatoses to improve diagnosis rates. We searched for genodermatoses on six databases. Each case report or case series was reviewed, including reports, published in English, containing adult patient descriptions. Duplicate manuscripts were removed using EndNote. The following case-level data were collected from the manuscripts: age, gender, patient country or region of origin, author country/continent of residence, skin cancer-related, and other key dermatologic features. 381 published articles, with a total of 578 SOC patients, met criteria for inclusion. SOC patients can present with fewer classic findings, such as a lower incidence of basal cell carcinomas (44%) in SOC Gorlin syndrome patients than palmar pits (66%) and mandibular cysts (66%). Differences between SOC populations were also noted, such as leukoplakia being more common in Asian dyskeratosis congenita patients (80%) in comparison to African dyskeratosis congenita patients (44%). SOC patients also have varying onset of skin cancer depending on the genodermatosis, from a median of 25 years of age in Rothmund-Thomson syndrome to 53 in Muir-Torre syndrome. In this review, SOC patients with genodermatoses can have varying presentations. Being cognizant of these characteristics may lead to earlier diagnosis and interventions to mitigate skin-cancer-related morbidity in SOC patients.

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Data availability

The case reports and manuscripts that support the findings of this review are available on request from the corresponding author [S.F.].

References

  1. Muzic JG, Schmitt AR, Wright AC et al (2017) Incidence and trends of basal cell carcinoma and cutaneous squamous cell carcinoma: a population-based study in Olmsted County, Minnesota, 2000 to 2010. Mayo Clin Proc 92(6):890–898. https://doi.org/10.1016/j.mayocp.2017.02.015

    Article  PubMed  Google Scholar 

  2. Gupta AK, Bharadwaj M, Mehrotra R (2016) Skin cancer concerns in people of color: risk factors and prevention. Asian Pac J Cancer Prev 17(12):5257–5264. https://doi.org/10.22034/APJCP.2016.17.12.5257

    Article  PubMed  PubMed Central  Google Scholar 

  3. Buster KJ, Stevens EI, Elmets CA (2012) Dermatologic health disparities. Dermatol Clin 30(1):53–59. https://doi.org/10.1016/j.det.2011.08.002

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Poladian K, Difato TC, Anderson KL, Taylor SL (2019) Gorlin syndrome in a patient with skin type VI. Dermatol Online J 25:13030

    Article  Google Scholar 

  5. Kang TW, Lee JS, Kim SE, Oh SW, Kim SC (2010) Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex. J Dermatol Sci 57:90–94

    Article  CAS  PubMed  Google Scholar 

  6. Penagos H, Jaen M, Sancho MT, Saborio MR, Fallas VG, Siegel DH, Frieden IJ (2004) Kindler syndrome in native Americans from Panama: report of 26 cases. Arch Dermatol 140:939–944

    Article  PubMed  Google Scholar 

  7. Schinella RA, Greco MA, Garay SM, Lackner H, Wolman SR, Fazzini EP (1985) Hermansky-Pudlak syndrome: a clinicopathologic study. Hum Pathol 16:366–376

    Article  CAS  PubMed  Google Scholar 

  8. Evans DG, Farndon PA (2018) Nevoid basal cell carcinoma syndrome. 2002 Jun 20 [Updated 2018 Mar 29]. In: Adam MP, Ardinger HH, Pagon RA, et al. (eds) GeneReviews® [Internet]. University of Washington, Seattle; 1993–2021. https://www.ncbi.nlm.nih.gov/books/NBK1151/

  9. Spiker AM, Troxell T, Ramsey ML (2021) Gorlin syndrome. [Updated 2021 Aug 12]. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island (FL); 2021 Jan. https://www.ncbi.nlm.nih.gov/books/NBK430921/

  10. Bresler SC, Padwa BL, Granter SR (2016) Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Head Neck Pathol 10(2):119–124. https://doi.org/10.1007/s12105-016-0706-9

    Article  PubMed  PubMed Central  Google Scholar 

  11. Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B (2004) Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genet Med 6(6):495–502. https://doi.org/10.1097/01.gim.0000145045.17711.1c

    Article  PubMed  Google Scholar 

  12. MacDonald DS (2015) A systematic review of the literature of nevoid basal cell carcinoma syndrome affecting East Asians and North Europeans. Oral Surg Oral Med Oral Pathol Oral Radiol 120(3):396–407. https://doi.org/10.1016/j.oooo.2015.05.024

    Article  PubMed  Google Scholar 

  13. Gustafson S, Zbuk KM, Scacheri C, Eng C (2007) Cowden syndrome. Semin Oncol 34(5):428–434. https://doi.org/10.1053/j.seminoncol.2007.07.009

    Article  CAS  PubMed  Google Scholar 

  14. Garofola C, Jamal Z, Gross GP (2021) Cowden disease. [Updated 2021 Jul 28]. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island (FL); 2022 Jan. https://www.ncbi.nlm.nih.gov/books/NBK525984/

  15. Riegert-Johnson DL, Gleeson FC, Roberts M et al (2010) Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hered Cancer Clin Pract 8(1):6. https://doi.org/10.1186/1897-4287-8-6

    Article  PubMed  PubMed Central  Google Scholar 

  16. Patil PB, Sreenivasan V, Goel S, Nagaraju K, Vashishth S, Gupta S, Garg K (2013) Cowden syndrome—Clinico-radiological illustration of a rare case. Contemp Clin Dent 4(1):119–123. https://doi.org/10.4103/0976-237X.111634

    Article  PubMed  PubMed Central  Google Scholar 

  17. El-Chemaly S, Young LR (2016) Hermansky-Pudlak syndrome. Clin Chest Med 37(3):505–511. https://doi.org/10.1016/j.ccm.2016.04.012

    Article  PubMed  PubMed Central  Google Scholar 

  18. Huizing M, Malicdan MCV, Gochuico BR, et al (2021) Hermansky-Pudlak syndrome. 2000 Jul 24 [Updated 2021 Mar 18]. In: Adam MP, Ardinger HH, Pagon RA, et al (eds) GeneReviews® [Internet]. University of Washington, Seattle; 1993–2021. https://www.ncbi.nlm.nih.gov/books/NBK1287/

  19. Marçon CR, Maia M (2019) Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors. An Bras Dermatol 94(5):503–520. https://doi.org/10.1016/j.abd.2019.09.023

  20. Christensen S, Wagner L, Coleman MM, Appell D (2017) The lived experience of having a rare medical disorder: Hermansky-Pudlak syndrome. Chronic Illn 13(1):62–72. https://doi.org/10.1177/1742395316655854

    Article  PubMed  Google Scholar 

  21. Gahl W, Brantly M, Kaiser-Kupfer M, Iwata F, Hazelwood S, Shotelersuk V, Duffy L, Kuehl E, Troendle J, Bernardini I (2021) Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky–Pudlak syndrome). NEJM 338:1258–1264. https://doi.org/10.1056/NEJM199804303381803

    Article  Google Scholar 

  22. Gay JT, Troxell T, Gross GP (2021) Muir-Torre syndrome. [Updated 2021 Jul 6]. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island (FL); 2022 Jan. https://www.ncbi.nlm.nih.gov/books/NBK513271/

  23. Higgins HJ, Voutsalath M, Holland JM (2009) Muir-torre syndrome: a case report. J Clin Aesthet Dermatol 2(8):30–32

    PubMed  PubMed Central  Google Scholar 

  24. Haraldsdottir S, Rafnar T, Frankel W et al (2017) Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. Nat Commun 8:14755. https://doi.org/10.1038/ncomms14755

    Article  PubMed  PubMed Central  Google Scholar 

  25. Le S, Ansari U, Mumtaz A, Malik K, Patel P, Doyle A, Khachemoune A (2017) Lynch syndrome and Muir-Torre syndrome: an update and review on the genetics, epidemiology, and management of two related disorders. Dermatol Online J 23(11):13030/qt8sg5w98j

  26. Hampel H, de la Chapelle A (2011) The search for unaffected individuals with Lynch syndrome: do the ends justify the means? Cancer Prev Res 4(1):1–5. https://doi.org/10.1158/1940-6207.CAPR-10-0345

    Article  Google Scholar 

  27. Roberts ME, Riegert-Johnson DL, Thomas BC, Rumilla KM, Thomas CS, Heckman MG, Purcell JU, Hanson NB, Leppig KA, Lim J, Cappel MA (2014) A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome. Genet Med 16(9):711–716. https://doi.org/10.1038/gim.2014.19

    Article  PubMed  Google Scholar 

  28. Dubois A, Rajan N (2020) CYLD Cutaneous syndrome. In: Adam MP, Everman DB, Mirzaa GM, et al (eds) GeneReviews® [Internet]. University of Washington, Seattle; 1993–2022. https://www.ncbi.nlm.nih.gov/books/NBK555820/

  29. Chen L, Oshima J (2002) Werner syndrome. J Biomed Biotechnol 2(2):46–54. https://doi.org/10.1155/S1110724302201011

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  30. Oshima J, Sidorova JM, Monnat RJ Jr (2017) Werner syndrome: clinical features, pathogenesis and potential therapeutic interventions. Ageing Res Rev 33:105–114. https://doi.org/10.1016/j.arr.2016.03.002

  31. Oshima J, Martin GM, Hisama FM (2021) Werner syndrome. 2002 Dec 2 [Updated 2021 May 13]. In: Adam MP, Mirzaa GM, Pagon RA, et al (eds) GeneReviews® [Internet]. University of Washington, Seattle; 1993–2023. https://www.ncbi.nlm.nih.gov/books/NBK1514/

  32. Prasad AN (2011) Epidermolysis bullosae. Med J Armed Forces India 67(2):165–166. https://doi.org/10.1016/S0377-1237(11)60024-5

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  33. Fine JD (2010) Inherited epidermolysis bullosa. Orphanet J Rare Dis 5:12. https://doi.org/10.1186/1750-1172-5-12

    Article  PubMed  PubMed Central  Google Scholar 

  34. El Hachem M, Zambruno G, Bourdon-Lanoy E et al (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. Orphanet J Rare Dis 9:76. https://doi.org/10.1186/1750-1172-9-76

    Article  PubMed  PubMed Central  Google Scholar 

  35. Emsen IM, Kabalar ME (2010) Epidermodysplasia verruciformis: an early and unusual presentation. Can J Plast Surg 18(1):21–24

    Article  PubMed  PubMed Central  Google Scholar 

  36. de Jong SJ, Imahorn E, Itin P et al (2018) Epidermodysplasia verruciformis: inborn errors of immunity to human beta-papillomaviruses. Front Microbiol 9:1222. https://doi.org/10.3389/fmicb.2018.01222

    Article  PubMed  PubMed Central  Google Scholar 

  37. Myers DJ, Kwan E, Fillman EP (2020) Epidermodysplasia verruciformis. [Updated 2020 Sep 15]. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island (FL); 2021 Jan. https://www.ncbi.nlm.nih.gov/books/NBK534198/

  38. Burger B, Itin PH (2014) Epidermodysplasia verruciformis. Curr Probl Dermatol 45:123–131. https://doi.org/10.1159/000356068

    Article  CAS  PubMed  Google Scholar 

  39. Emsen IM, Kabalar ME (2010) Epidermodysplasia verruciformis: an early and unusual presentation. Can J Plast Surg 18(1):21–24

  40. Ferreira FR, Santos LD, Tagliarini FA, Lira ML (2013) Porokeratosis of Mibelli—literature review and a case report. An Bras Dermatol 88(6 Suppl 1):179–182. https://doi.org/10.1590/abd1806-4841.20132721

    Article  PubMed  PubMed Central  Google Scholar 

  41. Bozdağ KE, Biçakçi H, Ermete M (2004) Giant porokeratosis. Int J Dermatol 43(7):518–520. https://doi.org/10.1111/j.1365-4632.2004.02158.x

    Article  PubMed  Google Scholar 

  42. Sakhiya JJ, Sakhiya DJ, Patel MR, Daruwala FR (2020) Case report on rare clinical variant of porokeratosis: disseminated superficial porokeratosis. J Cutan Aesthet Surg 13(2):145–148. https://doi.org/10.4103/JCAS.JCAS_35_19

    Article  PubMed  PubMed Central  Google Scholar 

  43. Goerttler EA, Jung EG (1975) Porokeratosis [correction of Parakeratosis] Mibelli and skin carcinoma: a critical review. Humangenetik 26(4):291–296

    CAS  PubMed  Google Scholar 

  44. Otsuka F, Someya T, Ishibashi Y (1991) Porokeratosis and malignant skin tumors. J Cancer Res Clin Oncol 117:55–60. https://doi.org/10.1007/BF01613197

    Article  CAS  PubMed  Google Scholar 

  45. Williams GM, Fillman EP (2021) Porokeratosis. [Updated 2021 Aug 11]. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island (FL); 2022 Jan. https://www.ncbi.nlm.nih.gov/books/NBK532290/

  46. Savage SA (2019) Dyskeratosis congenita. 2009 Nov 12 [Updated 2019 Nov 21]. In: Adam MP, Ardinger HH, Pagon RA, et al. (eds) GeneReviews® [Internet]. University of Washington, Seattle; 1993–2021. https://www.ncbi.nlm.nih.gov/books/NBK22301/

  47. Savage SA (2019) Dyskeratosis Congenita. 2009 Nov 12 [updated 2019 Nov 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A (eds) GeneReviews® [Internet]. University of Washington, Seattle; 1993–2020

  48. Savage SA, Alter BP (2009) Dyskeratosis congenita. Hematol Oncol Clin North Am 23(2):215–231. https://doi.org/10.1016/j.hoc.2009.01.003

    Article  PubMed  PubMed Central  Google Scholar 

  49. Alter BP, Giri N, Savage SA, Rosenberg PS (2009) Cancer in dyskeratosis congenita. Blood 113(26):6549–6557. https://doi.org/10.1182/blood-2008-12-192880

  50. Liu AQ, Deane EC, Prisman E, Durham JS (2022) Dyskeratosis congenita and squamous cell cancer of the head and neck: a case report and systematic review. Ann Otol Rhinol Laryngol 31(9):1036–1042. https://doi.org/10.1177/00034894211047470

  51. Yamaguchi H, Sakaguchi H, Yoshida K, Yabe M, Yabe H, Okuno Y, Muramatsu H, Takahashi Y, Yui S, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Inokuchi K, Ito E, Ogawa S, Kojima S (2015) Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan. Int J Hematol 102(5):544–552. https://doi.org/10.1007/s12185-015-1861-6

    Article  PubMed  Google Scholar 

  52. Kaundinya T, Kundu RV (2021) Diversity of skin images in medical texts: recommendations for student advocacy in medical education. J Med Educ Curric Dev 11(8):23821205211025856. https://doi.org/10.1177/23821205211025855

    Article  Google Scholar 

  53. Hamamy H (2012) Consanguineous marriages: preconception consultation in primary health care settings. J Community Genet 3(3):185–192. https://doi.org/10.1007/s12687-011-0072-y

    Article  PubMed  Google Scholar 

  54. Modell B, Darr A (2002) Science and society: Genetic counselling and customary consanguineous marriage. Nat Rev Genet 3:225–229. https://doi.org/10.1038/nrg754

    Article  CAS  PubMed  Google Scholar 

  55. Vahidnezhad H, Youssefian L, Zeinali S, Saeidian AH, Sotoudeh S, Mozafari N, Abiri M, Kajbafzadeh AM, Barzegar M, Ertel A, Fortina P, Uitto J (2017) Dystrophic Epidermolysis bullosa: COL7A1 mutation landscape in a multi-ethnic cohort of 152 extended families with high degree of customary consanguineous marriages. J Invest Dermatol 137(3):660–669. https://doi.org/10.1016/j.jid.2016.10.023

    Article  CAS  PubMed  Google Scholar 

  56. Harsh S, Patil SB (2017) Facial laser surgery. J Surg Dermatol 2(T1):139–147. https://doi.org/10.18282/jsd.v1.it1.137

    Article  Google Scholar 

  57. Litchman G, Nair PA, Le JK (2022) Pityriasis Rosea [Updated 2022 Jul 18]. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island (FL); 2022 Jan. https://www.ncbi.nlm.nih.gov/books/NBK448091/

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S.F. wrote the main manuscript text S.D. contributed to editing the manuscript text B.N. originated the aim of the manuscript and led the editing of the manuscript text

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Fazelpour, S., Deverapalli, S.C. & Nguyen, B. Skin cancer-associated genodermatoses in skin of color patients: a review. Arch Dermatol Res 316, 282 (2024). https://doi.org/10.1007/s00403-024-03087-w

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