{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T08:58:51Z","timestamp":1762505931059},"reference-count":27,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2012,6,15]],"date-time":"2012-06-15T00:00:00Z","timestamp":1339718400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genetic syndromes with dermatologic findings and multisystemic involvement (e.g., visceral cancer predisposition) are underrecognized. Patients may have incomplete penetrance and variable expressivity; some patients may solely exhibit subtle skin signs, which create a diagnostic challenge for physicians. Interdisciplinary diagnostic knowledge is required for the early diagnosis and monitoring of patients with these syndromes. Cutaneous changes in the face\u2014one of the most highly exposed areas\u2014can be easily noticed by patients themselves, their families and friends, and physicians; these changes may serve as early indicators of genetic syndromes with malignancies. In this article, we present examples of genetic syndromes with malignancies for which a thorough faciocutaneous examination is helpful in establishing a diagnosis. These examples include lentiginosis-related syndromes (e.g., Peutz-Jeghers syndrome, Carney complex), photosensitivity-related syndromes (Bloom syndrome, Rothmund-Thomson syndrome), and hamartoma-related syndromes (Cowden syndrome, multiple endocrine neoplasia syndrome, tuberous sclerosis complex, Gardner syndrome, Muir-Torre syndrome). The characteristics of these faciocutaneous clues are summarized and discussed. Objective evaluation of these faciocutaneous clues in combination with other clinical information (e.g., family history, histopathological findings, combination with other concomitant faciocutaneous lesions) is emphasized to narrow the diagnosis. The list of genetic syndromes with faciocutaneous manifestations is still expanding. Increased awareness of faciocutaneous markers can alert physicians to underlying syndromes and malignancies, render earlier screening and detection of associated medical issues, and allow for genetic counseling of family members.<\/jats:p>","DOI":"10.1634\/theoncologist.2012-0033","type":"journal-article","created":{"date-parts":[[2012,6,17]],"date-time":"2012-06-17T21:40:09Z","timestamp":1339969209000},"page":"930-936","source":"Crossref","is-referenced-by-count":17,"title":["More Than Just Skin Deep: Faciocutaneous Clues to Genetic Syndromes with Malignancies"],"prefix":"10.1093","volume":"17","author":[{"given":"Zhu","family":"Shen","sequence":"first","affiliation":[{"name":"a Department of Dermatology, Southwest Hospital, Third Military Medical University, Chongqing, China;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jodi D.","family":"Hoffman","sequence":"additional","affiliation":[{"name":"b Division of Genetics, Floating Hospital for Children at Tufts Medical Center, Boston, Massachusetts, USA;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fei","family":"Hao","sequence":"additional","affiliation":[{"name":"a Department of Dermatology, Southwest Hospital, Third Military Medical University, Chongqing, China;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Pier","sequence":"additional","affiliation":[{"name":"c Tufts Medical Center, Tufts University School of Medicine, Boston, Massachusetts, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2012,6,15]]},"reference":[{"key":"2021122308123690900_B1","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1111\/j.1755-148X.2009.00613.x","article-title":"Carney complex and lentiginosis","volume":"22","author":"Horvath","year":"2009","journal-title":"Pigment Cell Melanoma Res"},{"key":"2021122308123690900_B2","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1038\/ajg.2009.725","article-title":"High cancer risk in Peutz-Jeghers syndrome: A systematic review and surveillance recommendations","volume":"105","author":"Lier","year":"2010","journal-title":"Am J Gastroenterol"},{"key":"2021122308123690900_B3","doi-asserted-by":"crossref","first-page":"3209","DOI":"10.1158\/1078-0432.CCR-06-0083","article-title":"Frequency and spectrum of cancers in the Peutz-Jeghers syndrome","volume":"12","author":"Hearle","year":"2006","journal-title":"Clin Cancer Res"},{"key":"2021122308123690900_B4","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1016\/j.ando.2010.08.002","article-title":"Carney complex: Clinical and genetic 2010 update","volume":"71","author":"Vezzosi","year":"2010","journal-title":"Ann Endocrinol (Paris)"},{"key":"2021122308123690900_B5","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1001\/archderm.1986.01660190068018","article-title":"Cutaneous myxomas. A major component of the complex of myxomas, spotty pigmentation, and endocrine overactivity","volume":"122","author":"Carney","year":"1986","journal-title":"Arch Dermatol"},{"key":"2021122308123690900_B6","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1038\/ncomms1363","article-title":"Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome","volume":"2","author":"Chabosseau","year":"2011","journal-title":"Nat Commun"},{"key":"2021122308123690900_B7","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.1002\/ajmg.a.33427","article-title":"Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review","volume":"152A","author":"Simon","year":"2010","journal-title":"Am J Med Genet"},{"key":"2021122308123690900_B8","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/1750-1172-5-2","article-title":"Rothmund-Thomson syndrome","volume":"5","author":"Larizza","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"2021122308123690900_B9","doi-asserted-by":"crossref","first-page":"489","DOI":"10.4065\/mcp.2010.0816","article-title":"Colonic polyposis and neoplasia in Cowden syndrome","volume":"86","author":"Stanich","year":"2011","journal-title":"Mayo Clin Proc"},{"key":"2021122308123690900_B10","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s10897-008-9187-7","article-title":"Cowden syndrome: A critical review of the clinical literature","volume":"18","author":"Pilarski","year":"2009","journal-title":"J Genet Couns"},{"key":"2021122308123690900_B11","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1016\/j.humpath.2011.06.022","article-title":"Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: A case report and literature review","volume":"43","author":"Trufant","year":"2012","journal-title":"Hum Pathol"},{"key":"2021122308123690900_B12","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1056\/NEJMicm1005598","article-title":"Images in clinical medicine. 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