Allen, Shawn B

Lortscher, David N

Sengelmann, Roberta D

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Acrochordon-like basal cell carcinomas in patients with basal cell nevus syndrome

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Washington University School of MedicineDigital Commons@BeckerOpen Access Publications2007Acrochordon-like basal cell carcinomas in patientswith basal cell nevus syndromeDavid N. LortscherWashington University School of Medicine in St. LouisRoberta D. SengelmannWashington University School of Medicine in St. LouisShawn B. AllenColorado Permanente Medical GroupFollow this and additional works at: http://digitalcommons.wustl.edu/open_access_pubsThis Open Access Publication is brought to you for free and open access by Digital Commons@Becker. It has been accepted for inclusion in OpenAccess Publications by an authorized administrator of Digital Commons@Becker. For more information, please contact engeszer@wustl.edu.Recommended CitationLortscher, David N.; Sengelmann, Roberta D.; and Allen, Shawn B., ,"Acrochordon-like basal cell carcinomas in patients with basal cellnevus syndrome." Dermatology Online Journal.13,2. . (2007).http://digitalcommons.wustl.edu/open_access_pubs/5171Dermatology Online JournalUC DavisAcrochordon-like basal cell carcinomas in patients with basal cell nevus syndromeDavid N Lortscher1, Roberta D Sengelmann2, Shawn B Allen3Dermatology Online Journal 13 (2): 211. Washington University School of Medicine St. Louis, MO. lortschd@wustl.edu 2. Department of Medicine, Division of Dermatology,Washington University School of Medicine, St. Louis, MO 3. Colorado Permanente Medical Group, Lafayette, COAbstractBasal cell nevus syndrome is an autosomal dominant disorder characterized by multiple basal cell carcinomas, along with numerousother documented clinical features. Acrochordons (or skin tags) are common benign neoplasms that are appropriately left untreated inmost patients. We describe two patients with known BCNS who were found to have multiple BCCs that clinically resembledacrochordons. Our findings support the biopsy of acrochordon-like growths in patients with basal cell nevus syndrome to rule out basalcell carcinoma.Basal cell nevus syndrome (BCNS or Gorlin syndrome) is an autosomal dominant disorder usually characterized by the earlyappearance of multiple basal cell carcinomas (BCCs), as well as by other variable clinical features such as odontogenic keratocysts,palmoplantar pits, calcification of the falx cerebri, and a coarse facies [1, 2].An acrochordon (skin tag or fibroepithelial polyp) is a small, soft, usually pedunculated outgrowth of epidermal and dermal tissue mostcommonly seen in adults on areas of friction such as the neck, eyelid, axilla, and groin. In clinical practice acrochordons are usually nottreated, and it has been written that in most instances they need not be submitted for microscopic examination [3].Clinical synopsisPatient 1A 46-year-old woman with known BCNS was referred to our dermatologic surgery center for Mohs excision of BCCs of the scalp,glabella, and mandible. On the day of surgery, a full body exam revealed five additional suspicious lesions. Two of the lesions werepearly, telangiectatic, pedunculated papules of 2 and 4 mm, respectively, in her right antecubital fossa (Fig. 1). The other three wereapproximately 1 mm, skin-colored, pedunculated papules on the left side of the patient's neck (Fig. 2).Figure 1A Figure 1BFigure 1A. Two pearly, pedunculated, telangiectatic papules of 2and 4 mm, respectively, in the right antecubital fossa of a46-year-old woman. Both were BCCs by histology.Figure 1B. Typical nodular BCC with some cystic areas. 4x.Acrochordon-like basal cell carcinomas in patients with basal cell nevus ... http://escholarship.org/uc/item/0039g7k01 of 4 8/13/2016 2:43 PMFigure 3CNodular BCC with a reticulatepattern. 10x.Figure 2A Figure 2BFigure 2A. Three papules on the neck of 46-year-old woman. Twowere BCCs by histology; the lesion at the top right corner was atrue acrochordon.Figure 2B. A true acrochordon with no evidence of BCC. 10x.These neoplasms were snip-excised utilizing forceps and iris scissors, and the base of each lesion was gently cauterized.Histopathological examination showed both of the antecubital lesions—as well as two of the three neck lesions—to be BCCs. The thirdneck lesion was a true acrochordon by histology.Patient 2Figure 3A Figure 3BFigure 3A. Five soft, minimally-hyperpigmented neoplasms on rightaxilla of 12-year-old girl. All were BCCs by histology.Figure 3B. Nodular BCC. 4xA 12-year-old girl with a new diagnosis of BCNS was referred to our dermatologic surgery centerfor evaluation of pearly papules on her face, neck, chest, and back. A full body examinationrevealed nine additional papules in the bilateral axillae ranging in size from 1 mm to 4 mm. Theselesions were soft, skin-colored to slightly hyperpigmented, and minimally pedunculated (Fig. 3).They were not telangiectatic or pearly in appearance. Two of the larger lesions were shave-excisedand found to be BCCs. Based on the results of these two biopsies, the seven smaller lesions werealso excised and found to be BCCs.Figure 4A Figure 4BFigure 4A. Five 1-2 mm skin-colored papules on lateral neck of12-year-old girl. The majority of the patient's 16 such lesions wereBCCs by histology.Figure 4B. Histology revealing nodular BCCOn follow-up exam the following month, approximately sixteen additional 1-2 mm growths were noted on the girl's neck, chest, back, and buttocks. These were skin-colored and inconspicuous (Fig. 4). Each was removed by snip- or shave excision, and—notAcrochordon-like basal cell carcinomas in patients with basal cell nevus ... http://escholarship.org/uc/item/0039g7k02 of 4 8/13/2016 2:43 PMFigure 4CFigure 4C. Typical nodularBCC showing peripheralpalisading as well as cleftingbetween the tumor andsurrounding stroma. 4x, 10x.surprisingly—the majority were BCCs by histology, although a few were acrochordons.DiscussionBasal cell nevus syndrome is an autosomal dominant disorder usually characterized by early-onset and multiple basal cellcarcinomas, along with other variable clinical features such as odontogenic keratocysts, palmoplantar pits, bifid ribs, calcification ofthe falx cerebri, medulloblastomas, hydrocephalus, mental retardation, spine abnormalities, cataracts, and a coarse facies [1, 2].About 40 percent of cases represent new germline mutations [4], and a study in the north-west of England found the prevalence ofBCNS to be 1 in 55,600 persons [5]. The disorder has been traced to a mutation on chromosome 9 in the PTCH gene (humanhomologue of the Drosophila "patched" gene) [6], which functions as a tumor suppressor in the hedgehog signaling network [7]. Inaddition to its role in the cell cycle, PTCH helps control embryogenesis and the development of normal tissue [8].An acrochordon or skin tag is a benign outgrowth of epidermal and dermal tissue that is most commonly seen in adults on areas offriction such as the neck, eyelids, axillae, and groin. Acrochordons have a reported incidence of 46 percent in the generalpopulation [9], and a 1996 study found only 5 of 1335 (~0.4%) clinically diagnosed acrochordons to be malignant (4 BCCs and 1squamous cell carcinoma in situ) [3]. Because of their high incidence and their low probability of malignancy, acrochordon-likelesions are appropriately left untreated in most patients.We have reported the cases of two previously diagnosed BCNS patients—one adult and one child—with multiple acrochordon-likepapules that proved histologically to be BCCs. These acrochordon-like BCCs had a variety of appearances as shown above, andmany of them could have been mistaken for benign growths requiring no treatment. We performed snip- or shave-excisions with 1to 2 mm margins followed by gentle electrocautery of the base as a quick and clinically effective removal method; no recurrence atthe removal sites had been seen clinically as of 10 months post excision. We will continue to follow these patients every 3-4 monthsthroughout their lifetime.In light of these cases, we recommend the excisional biopsy or destruction of all acrochordon-like lesions on patients with a knownhistory of BCNS. Additionally, we support the conclusion by Chiritescu and Maloney that acrochordon-like lesions found in youngpatients should be biopsied [10]. Acrochordons are distinctly uncommon in childhood [9], and the discovery of an acrochordon-likeBCC in a child can lead to the early diagnosis of BCNS [10]. A patient suspected to have BCNS should follow a regimen ofincreased sun protection and should see a medical geneticist, in addition to receiving regular dermatologic care.References1. High A, Zedan W. Basal cell nevus syndrome. Curr Opin Onc. 2005;17(2):160-166.2. Diaz-Fernandez JM, Infante-Cossio P, Belmonte-Caro R, Ruiz-Laza L, Garcia-Perla-Garcia A, Gutierrez-Perez JL. Basal cellnevus syndrome: Presentation of six cases and literature review. Med Oral Patol Oral Cir Bucal. 2005;10Suppl:E57-66.3. Eads TJ, Chuang TY, Fabre VC, Farmer ER, Hood AF. The utility of submitting fibroepithelial polyps for histological examination.Arch Dermatol. 1996;132(12):1459-62.4. Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine 1987;66:98-113.5. Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinomasyndrome: results of a population based study. J Med Genet. 1993;30(6):460-464.6. Hahn H, Wicking C, Zaphiropoulos PG, Gailani MR, Shanley S, Chidambaram A, et al. Mutations of the human homolog ofDrosophila patched in the nevoid basal cell carcinoma syndrome. Cell. 1996;85:841-851.7. Cohen MM Jr. Nevoid basal cell carcinoma syndrome: molecular biology and new hypotheses. Int J Oral Maxillofac Surg.1999;28:216-223.8. Cohen MM Jr. The hedgehog signaling network. Am J Med Gen. 2003;123A:5-28.9 Banik R Lubach D Skin tags: localization and frequencies according to sex and age Dermatologica 1987;174(4):180 183Acrochordon-like basal cell carcinomas in patients with basal cell nevus ... http://escholarship.org/uc/item/0039g7k03 of 4 8/13/2016 2:43 PM10. Chiritescu E, Maloney ME. Acrochordons as a presenting sign of nevoid basal cell carcinoma syndrome. J Am AcadDermatol. 2001;44:789-794.© 2007 Dermatology Online JournalAcrochordon-like basal cell carcinomas in patients with basal cell nevus ... http://escholarship.org/uc/item/0039g7k04 of 4 8/13/2016 2:43 PM

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Acrochordon-like basal cell carcinomas in patients with basal cell nevus syndrome

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