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Epidermolytic Acanthoma of the Genitalia Does Not Show Mutations in KRT1 or KRT10

Egozi-Reinman, Ella MD; Avitan-Hersh, Emily MD; Barzilai, Aviv MD; Indelman, Margarita MSc; Bergman, Reuven MD

The American Journal of Dermatopathology: February 2016 - Volume 38 - Issue 2 - p 164–165
doi: 10.1097/DAD.0000000000000359
Letters to the Editor

*Department of Dermatology, Rambam Health Care Campus and the Ruth and Bruce Rappaport

Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel

Department of Dermatology, Sheba Medical Center, Tel Aviv, Israel

The authors declare no conflicts of interest.

To the Editor:

Epidermolytic acanthoma (EA) is a rare benign tumor that typically presents as a solitary lesion or, less commonly, as multiple or disseminated discrete lesions in various locations including the face, trunk, extremities, and genitalia. The histopathologic and ultrastructural features are indistinguishable from those of hereditary epidermolytic hyperkeratosis (EHK).1 The underlying genetic derangement in EHK is mutations in KRT 1 and 10 genes.2 It has been suggested that genital EA may be a local variant of generalized EHK. Previous studies failed to provide molecular evidence of human papillomavirus infection in these lesions, which may simulate condylomas clinically.3–5 There were no studies of KRT gene mutations in EA limited to the genitalia.

We studied a 47-year-old woman who presented with several asymptomatic whitish or skin colored papules in the genitalia (Fig. 1). The histopathology showed marked acanthosis and EHK in the spinous and granular cell layers (Figs. 2 and 3). In situ hybridization for pan human papillomavirus DNA was negative.







Germline DNA and DNA extracted from a fresh biopsy of an EA lesion were also studied for KRT1 and KRT10 gene mutations as previously described.6 No mutations were found. In summary, our case did not prove to be a local variant of generalized EHK or the consequence of an acquired mutation in KRT1 or KRT10. Other factors are probably responsible for the EHK changes in these lesions.

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