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April 2011

Multiple Facial White Papules—Diagnosis

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Arch Dermatol. 2011;147(4):499-504. doi:10.1001/archdermatol.2011.64-b

Histologic examination of the cheek specimen revealed a dilated follicular infundibulum with perifollicular fibrosis consistent with a fibrofolliculoma (Figure 2). The nose specimen showed a dilated follicle surrounded by a fibrous stroma with small groups of sebaceous lobules in peripheral zones consistent with a trichodiscoma (Figure 3). Renal ultrasonography showed 4 simple cysts in the left kidney and a right lower pole renal calculus. Chest radiography and urinalysis findings were normal, as were the results of urea and electrolyte assays. Genetic analysis revealed a pathogenic heterozygous frameshift mutation (c.1285dupC;p.His429ProfsX27) identified in exon 11 of the folliculin gene (FLCN [OMIM 607273]) confirming the diagnosis of BHDS. Colonoscopy findings were normal, apart from diverticular disease.