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Dermoscopy of Brooke-Spiegler Syndrome

Rachael Jarrett, BMBCh; Lisa Walker, BMBCh, BSc, DPhil, MRCPCH; Jonathan Bowling, MBChB, MRCP
Arch Dermatol. 2009;145(7):854. doi:10.1001/archdermatol.2009.139.
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We describe 2 patients with known mutations in the CYLD-1 gene (OMIM 123850) who were seen in the skin cancer genetics clinic to illustrate the dermoscopic appearance of cylindromas in Brooke-Spiegler syndrome. Case 1 involved a 42-year-old woman with multiple firm, rubbery, pink nodules with areas of hyperpigmentation and telangiectasia (Figure 1). Case 2 involved a 45-year-old woman with multiple fleshy dermal nodules, some of which were erythematous with surface telangiectasia (Figure 2). Dermoscopy showed areas of background pink coloration with ill-defined arborizing vessels and ill-defined blue structures (case 1, Figure 3; case 2, Figure 4). Histologic analysis revealed features that were intermediate between a cylindroma and a spiradenoma in case 1 and consistent with cylindromas in case 2. Brooke-Spiegler syndrome is characterized by a predisposition to cutaneous adnexal tumors, most frequently cylindromas, trichoepitheliomas, and, occasionally, spiradenomas. Although the disease is usually benign, malignant transformation of cylindromas has been reported1,2; therefore, such cases should be monitored for signs of ulceration, rapid growth, bleeding, and blue-pink nodules.3 In conclusion, cylindromas have a reproducible dermoscopic appearance and should be added to the differential diagnosis of papules with telangiectasia and blue structures on dermoscopy, particularly if multiple lesions are present and the arborizing vessels are not sharply in focus.

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