[Skip to Content]
Access to paid content on this site is currently suspended due to excessive activity being detected from your IP address 54.167.142.229. Please contact the publisher to request reinstatement.
[Skip to Content Landing]
Citations 0
Off-Center Fold
April 2011

Multiple Facial White Papules—Diagnosis

Author Affiliations
 

MARY S.STONEMDSOONBAHRAMIMD CARRIE ANN R.CUSACKMDSENAIT W.DYSONMDMOLLY A.HINSHAWMDARNI K.KRISTJANSSONMD

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.

First Page Preview View Large
First page PDF preview
First page PDF preview
×