David J Leffell, MD

Research Interests

Carcinoma, Basal Cell; Carcinoma, Squamous Cell; Epidermis; Head and Neck Neoplasms; Skin Neoplasms; Mohs Surgery; Genes, p53

Research Organizations

Dermatology: Dermatologic Surgery | Skin Diseases Research Center, Yale

Cancer Genetics

Yale Cancer Center: Genomics, Genetics, and Epigenetics

Research Summary

Dr. Leffell and colleagues discovered the skin cancer gene, PTCH, in 1996 and have directed subsequent research towards understanding how skin cancer develops. Other research includes studies of the p53 gene in skin cancer, epidemiology of skin cancer, and innovative diagnostic devices.

Selected Publications

• PTCH codon 1315 polymorphism and risk for nonmelanoma skin cancer.

  Asplund A, Gustafsson AC, Wikonkal NM, Sela A, Leffell DJ, Kidd K, Lundeberg J, Brash DE, Pontén F. PTCH codon 1315 polymorphism and risk for nonmelanoma skin cancer. The British Journal Of Dermatology 2005, 152:868-73.

• Human cadaveric allograft for repair of nasal defects after extirpation of Basal cell carcinoma by Mohs micrographic surgery.

  Carucci JA, Kolenik SA, Leffell DJ. Human cadaveric allograft for repair of nasal defects after extirpation of Basal cell carcinoma by Mohs micrographic surgery. Dermatologic Surgery : Official Publication For American Society For Dermatologic Surgery [et Al.] 2002, 28:340-3.

• Histopathologic misdiagnoses and their clinical consequences.

  Olhoffer IH, Lazova R, Leffell DJ. Histopathologic misdiagnoses and their clinical consequences. Archives Of Dermatology 2002, 138:1381-3.

• Salovey P, Pronin E, Rothman AJ, Zullo J, Leffell DJ: Framing, involvement, and skin cancer Prevention and early detection, University published manuscript, Yale University, 2001
• Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.

  Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, Negus K, Smyth I, Pressman C, Leffell DJ, Gerrard B, Goldstein AM, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale AE. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996, 85:841-51.

• Relationship between sunlight exposure and a key genetic alteration in basal cell carcinoma.

  Gailani MR, Leffell DJ, Ziegler A, Gross EG, Brash DE, Bale AE. Relationship between sunlight exposure and a key genetic alteration in basal cell carcinoma. Journal Of The National Cancer Institute 1996, 88:349-54.

• In vivo fluorescence of human skin. A potential marker of photoaging.

  Leffell DJ, Stetz ML, Milstone LM, Deckelbaum LI. In vivo fluorescence of human skin. A potential marker of photoaging. Archives Of Dermatology 1988, 124:1514-8.

• Aggressive-growth basal cell carcinoma in young adults.

  Leffell DJ, Headington JT, Wong DS, Swanson NA. Aggressive-growth basal cell carcinoma in young adults. Archives Of Dermatology 1991, 127:1663-7.

Full List of PubMed Publications

• Ezaldein HH, Scott JF, Yin ES, Ventura A, DeRuyter NP, Leffell DJ: Transparency and Dermatologic Device Approval by the US Food and Drug Administration. JAMA Dermatol. 2018 Mar 1. PMID: 29365020
• Totonchy MB, Leventhal JS, Ko CJ, Leffell DJ: Hypertrophic Lichen Planus and Well-Differentiated Squamous Cell Carcinoma: A Diagnostic Conundrum. Dermatol Surg. 2018 Jan 22; 2018 Jan 22. PMID: 29360655
• Ferrucci LM, Cartmel B, Clare RA, Choy CC, Kershaw T, Leffell DJ, Mayne ST: Cross-sectional assessment of ultraviolet radiation-related behaviors among young people after a diagnosis of melanoma or basal cell carcinoma. J Am Acad Dermatol. 2017 Dec 29; 2017 Dec 29. PMID: 29291957
• Ko CJ, Glusac EJ, McNiff JM, Rodic N, Leffell DJ: Squamous proliferations on the legs of women: Qualitative examination of histopathology, TP53 sequencing, and implications for diagnosis in a series of 30 cases. J Am Acad Dermatol. 2017 Dec; 2017 Jul 11. PMID: 28709693
• Panse G, Cowper SE, Leffell DJ, Pulitzer M, Ko CJ: Well-differentiated neuroendocrine tumors in skin: Terminology and diagnostic utility of cytokeratin 5/6 and p63. J Cutan Pathol. 2017 Jun. PMID: 28417484
• Zhang Y, Cartmel B, Choy CC, Molinaro AM, Leffell DJ, Bale AE, Mayne ST, Ferrucci LM: Body mass index, height and early-onset basal cell carcinoma in a case-control study. Cancer Epidemiol. 2017 Feb; 2016 Dec 28. PMID: 28039770
• Munday WR, Leffell DJ, McNiff JM, Ko CJ: Histopathologic features of multiple cutaneous squamous cell carcinomas of the lower extremity. J Cutan Pathol. 2016 Sep; 2016 Jun 14. PMID: 27220356
• Christensen SR, McNiff JM, Cool AJ, Aasi SZ, Hanlon AM, Leffell DJ: Histopathologic assessment of depth of follicular invasion of squamous cell carcinoma (SCC) in situ (SCCis): Implications for treatment approach. J Am Acad Dermatol. 2016 Feb; 2015 Dec 6. PMID: 26670714
• Berlin NL, Cartmel B, Leffell DJ, Bale AE, Mayne ST, Ferrucci LM: Family history of skin cancer is associated with early-onset basal cell carcinoma independent of MC1R genotype. Cancer Epidemiol. 2015 Dec; 2015 Sep 14. PMID: 26381319
• Izikson R, Leffell DJ, Bock SA, Patriarca PA, Post P, Dunkle LM, Cox MM: Randomized comparison of the safety of Flublok(®) versus licensed inactivated influenza vaccine in healthy, medically stable adults ≥ 50 years of age. Vaccine. 2015 Nov 27; 2015 Nov 1. PMID: 26529070
• Berlin NL, Ferrucci LM, Cartmel B, Wang SY, Leffell DJ, McNiff JM, Mayne ST: Subsequent skin cancer in patients with early-onset basal cell carcinoma. Australas J Dermatol. 2015 Aug. PMID: 26201376
• Higgins HW 2nd, Lee KC, Galan A, Leffell DJ: Melanoma in situ: Part II. Histopathology, treatment, and clinical management. J Am Acad Dermatol. 2015 Aug. PMID: 26183968
• Higgins HW 2nd, Lee KC, Galan A, Leffell DJ: Melanoma in situ: Part I. Epidemiology, screening, and clinical features. J Am Acad Dermatol. 2015 Aug. PMID: 26183967
• Mendez JJ, Ghaedi M, Sivarapatna A, Dimitrievska S, Shao Z, Osuji CO, Steinbacher DM, Leffell DJ, Niklason LE: Mesenchymal stromal cells form vascular tubes when placed in fibrin sealant and accelerate wound healing in vivo. Biomaterials. 2015 Feb; 2014 Nov 26. PMID: 25433608
• Kim J, Singh Maan H, Cool AJ, Hanlon AM, Leffell DJ: Fast Absorbing Gut Suture versus Cyanoacrylate Tissue Adhesive in the Epidermal Closure of Linear Repairs Following Mohs Micrographic Surgery. J Clin Aesthet Dermatol. 2015 Feb. PMID: 25741400
• Goldberg C, Hoang D, McRae M, Chung C, Leffell DJ, Narayan D: A strategy for the successful management of dermatofibrosarcoma protuberans. Ann Plast Surg. 2015 Jan. PMID: 23788146
• Cartmel B, Dewan A, Ferrucci LM, Gelernter J, Stapleton J, Leffell DJ, Mayne ST, Bale AE: Novel gene identified in an exome-wide association study of tanning dependence. Exp Dermatol. 2014 Oct. PMID: 25041255
• Troche JR, Ferrucci LM, Cartmel B, Leffell DJ, Bale AE, Mayne ST: Systemic glucocorticoid use and early-onset basal cell carcinoma. Ann Epidemiol. 2014 Aug; 2014 May 22. PMID: 24958637
• Ferrucci LM, Cartmel B, Molinaro AM, Leffell DJ, Bale AE, Mayne ST: Tea, coffee, and caffeine and early-onset basal cell carcinoma in a case-control study. Eur J Cancer Prev. 2014 Jul. PMID: 24841641
• Higgins HW 2nd, Lee KC, Leffell DJ: Point of care cutaneous imaging technology in melanoma screening and mole mapping. F1000Prime Rep. 2014; 2014 May 6. PMID: 24860656
• Kim C, Ko CJ, Leffell DJ: Cutaneous squamous cell carcinomas of the lower extremity: a distinct subset of squamous cell carcinomas. J Am Acad Dermatol. 2014 Jan; 2013 Nov 5. PMID: 24210370
• Hanlon A, Kim J, Leffell DJ: Intralesional interferon alfa-2b for refractory, recurrent squamous cell carcinoma of the face. J Am Acad Dermatol. 2013 Dec. PMID: 24238178
• Scarmo S, Cartmel B, Lin H, Leffell DJ, Ermakov IV, Gellermann W, Bernstein PS, Mayne ST: Single v. multiple measures of skin carotenoids by resonance Raman spectroscopy as a biomarker of usual carotenoid status. Br J Nutr. 2013 Sep 14; 2013 Jan 28. PMID: 23351238
• Cartmel B, Ferrucci LM, Spain P, Bale AE, Pagoto SL, Leffell DJ, Gelernter J, Mayne ST: Indoor tanning and tanning dependence in young people after a diagnosis of basal cell carcinoma. JAMA Dermatol. 2013 Sep. PMID: 23824273
• Ferrucci LM, Cartmel B, Molinaro AM, Leffell DJ, Bale AE, Mayne ST: Indoor tanning and risk of early-onset basal cell carcinoma. J Am Acad Dermatol. 2012 Oct; 2011 Dec 9. PMID: 22153793
• Ferrucci LM, Cartmel B, Molinaro AM, Gordon PB, Leffell DJ, Bale AE, Mayne ST: Host phenotype characteristics and MC1R in relation to early-onset basal cell carcinoma. J Invest Dermatol. 2012 Apr; 2011 Dec 8. PMID: 22158557
• Lostritto K, Ferrucci LM, Cartmel B, Leffell DJ, Molinaro AM, Bale AE, Mayne ST: Lifetime history of indoor tanning in young people: a retrospective assessment of initiation, persistence, and correlates. BMC Public Health. 2012 Feb 10; 2012 Feb 10. PMID: 22324969
• Scarmo S, Cartmel B, Lin H, Leffell DJ, Welch E, Bhosale P, Bernstein PS, Mayne ST: Significant correlations of dermal total carotenoids and dermal lycopene with their respective plasma levels in healthy adults. Arch Biochem Biophys. 2010 Dec 1; 2010 Jul 14. PMID: 20637178
• Mayne ST, Cartmel B, Scarmo S, Lin H, Leffell DJ, Welch E, Ermakov I, Bhosale P, Bernstein PS, Gellermann W: Noninvasive assessment of dermal carotenoids as a biomarker of fruit and vegetable intake. Am J Clin Nutr. 2010 Oct; 2010 Aug 4. PMID: 20685953
• Ko CJ, Leffell DJ, McNiff JM: Adenosquamous carcinoma: a report of nine cases with p63 and cytokeratin 5/6 staining. J Cutan Pathol. 2009 Apr. PMID: 19278431
• Mariwalla K, Aasi SZ, Glusac EJ, Leffell DJ: Mohs micrographic surgery histopathology concordance. J Am Acad Dermatol. 2009 Jan. PMID: 19103361
• Newman JC, Leffell DJ: Correlation of embryonic fusion planes with the anatomical distribution of basal cell carcinoma. Dermatol Surg. 2007 Aug. PMID: 17661939
• Neville JA, Welch E, Leffell DJ: Management of nonmelanoma skin cancer in 2007. Nat Clin Pract Oncol. 2007 Aug. PMID: 17657251
• Pennington BE, Leffell DJ: Mohs micrographic surgery: established uses and emerging trends. Oncology (Williston Park). 2005 Aug. PMID: 16255133
• Aasi SZ, Leffell DJ: Bilobed transposition flap. Dermatol Clin. 2005 Jan. PMID: 15620619
• Leffell DJ: Clinical efficacy of devices for nonablative photorejuvenation. Arch Dermatol. 2002 Nov. PMID: 12437458
• Carucci JA, Kolenik SA, Leffell DJ: Repair of a defect of the lower lip. Dermatol Surg. 2002 Feb. PMID: 11860438

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