Faculty Bibliography

BACKGROUND:The nipple is an extremely unusual location for basal cell carcinoma (BCC). OBJECTIVE:To report a case of BCC originating on the areola and nipple region in a 47-year-old Dominican woman treated with Mohs micrographic surgery (MMS). METHODS:We discuss a case of BCC originating on the areola and nipple region treated with MMS and review the literature regarding treatment of BCC of the nipple. RESULTS:BCCs of the nipple occur rarely, with a total of 19 cases reported in the literature, 6 of which occurred in females. While many of the reported cases were treated with simple excision, several of these required postoperative radiation therapy and/or mastectomy due to their large size and aggressive nature. CONCLUSION/CONCLUSIONS:MMS should be considered for treating BCCs at this site as a tissue-sparing measure to minimize deformity of this important anatomic area and to minimize the risk of recurrence.

Merkel cell carcinoma has been found to have an increased incidence among immunosuppressed patients, specifically organ transplant recipients receiving immunosuppressive therapy. HIV similarly depresses the immune response of infected persons. We report a case of Merkel cell carcinoma (MCC) in an HIV-infected patient who died from liver metastases 2 years after his tumor was diagnosed. The purpose of this report is to describe the possible relationship between HIV and MCC and to emphasize the importance of early diagnosis and aggressive management of MCC.

Ultraviolet light exposure is the major risk factor for the development of squamous cell carcinoma in Caucasians. Mutations in the tumor suppressor gene p53 have been identified in both squamous cell carcinomas and basal cell carcinomas. The human homolog of the Drosophila patched gene, has been shown to be mutated in sporadic basal cell carcinomas; however, mutations in the patched gene have not been found in squamous cell carcinoma. In this study, we screened a total of 20 squamous cell carcinoma samples for mutations in the patched gene. Using polymerase chain reaction-single strand conformation polymorphism as an initial screening method, we identified one non-sense mutation, two mis-sense mutations and three silent mutations in five squamous cell carcinoma samples. In one squamous cell carcinoma sample, we identified a tandem GG-->AA transitional change at nucleotide 3152 in exon 18 of the patched gene that resulted in a premature stop codon at codon 1051. The three squamous cell carcinoma samples containing non-sense and mis-sense mutations were isolated from individuals with histories of multiple basal cell carcinoma. Sequence analysis of the p53 gene in these five squamous cell carcinoma samples identified one CC-->TT and three C-->T ultraviolet-specific nucleotide changes. Our study provides evidence that the patched gene is mutated in squamous cell carcinoma from individuals with a history of multiple basal cell carcinoma. The identification of ultraviolet-specific nucleotide changes in both tumor suppressor genes supports the notion that ultraviolet exposure plays an important part in the development of squamous cell carcinoma.

Basal cell carcinoma (BCC) is the most common skin cancer in the Western world. Ultraviolet (UV) exposure, race, age, gender, and decreased DNA repair capacity are known risk factors for the development of BCC. Of these, UVB irradiation from sunlight is the most significant risk factor. The incidence of sporadic BCC increases in individuals older than age 55, with the greatest incidence reported in individuals who are older than 70, and is rare in individuals who are younger than 30. In this study, we analyzed 24 BCC samples from individuals who had BCC diagnosed by the age of 30. Fifteen single-stranded conformation polymorphism variants in the PTCH gene were identified in 13 BCC samples. Sequence analysis of these single-stranded conformation polymorphism variants revealed 13 single nucleotide changes, one AT insertion, and one 15-bp deletion. Most of these nucleotide changes (nine of 15) were predicted to result in truncated PTCH proteins. Fifteen p53 mutations were also found in 11 of the 24 BCC samples. Thirty-three percent (five of 15) and 60% (nine of 15) of the nucleotide changes in the PTCH and p53 genes, respectively, were UV-specific C-->T and CC-->TT nucleotide changes. Our data demonstrate that the p53 and PTCH genes are both implicated in the development of early-onset BCC. The identification of UV-specific nucleotide changes in both tumor suppressor genes suggests that UV exposure is an important risk factor in early onset of BCC.

UVB irradiation is known to produce DNA damage at mutation hotspots in the p53 tumor suppressor gene, leading to the development of skin cancers. Mutations in the PTCH tumor suppressor gene, which is known to be responsible for the development of nevoid basal cell carcinoma syndrome, have also been identified in sporadic basal cell carcinomas (BCCs). We describe the case of an 80-year-old welder in whom 3 novel p53 mutations, as well as UV-specific PTCH mutations, were detected in two BCC samples from sun-exposed skin. The simultaneous presence of UV-specific p53 and PTCH mutations in the same BCC sample has not previously been reported.

BACKGROUND:Digital photography is emerging as a standard method of documenting preoperative, intraoperative, and postoperative results in the clinical setting. While hard copies of these electronic images can be quickly and easily generated on color laser or inkjet printers, there are times when it is necessary to generate a true photographic print of an image, either for insurance documentation or to meet the publication requirements of a peer-reviewed journal. Standard inkjet and laser printers are unable to generate true photographic prints. OBJECTIVE:To identify a rapid, cost-effective means of generating high-quality photographs of digital images. METHODS:We describe the use of on-line service bureaus with digital photographic printers to obtain high-quality photographic prints of patient images. RESULTS:From as little as 49 cents per print, a color or black-and-white print of a color image can be generated by an on-line service bureau to satisfy the need for a photographic quality hard copy. CONCLUSIONS:While color laser or inkjet printers allow physicians to generate their own hard copies of electronic patient images, photographic quality images are at times needed to satisfy requirements for insurance documentation or publication in peer-reviewed journals. Use of on-line service bureaus is the most cost-effective way that we have found to obtain high-quality photographic color or black-and-white prints from electronically stored patient images.