Volume 4, Issue 4, Pages (May 2018)

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Volume 4, Issue 4, Pages 340-343 (May 2018) Novel mevalonate kinase missense mutation in a patient with disseminated superficial actinic porokeratosis George D. Glinos, BS, Irena Pastar, PhD, Alessio Giubellino, MD, Marjana Tomic-Canic, PhD, Mariya Miteva, MD, Rivka C. Stone, MD, PhD JAAD Case Reports Volume 4, Issue 4, Pages 340-343 (May 2018) DOI: 10.1016/j.jdcr.2017.12.004 Copyright © 2017 American Academy of Dermatology, Inc. Terms and Conditions

Fig 1 DSAP features. A, Characteristic DSAP lesions on the bilateral lower extremities. B, Representative annular lesions with hyperkeratotic rims. C, Lesional biopsy specimen shows the characteristic cornoid lamella. (Hematoxylin-eosin stain; original magnification, ×20.) JAAD Case Reports 2018 4, 340-343DOI: (10.1016/j.jdcr.2017.12.004) Copyright © 2017 American Academy of Dermatology, Inc. Terms and Conditions

Fig 2 MVK sequencing in DSAP lesional and nonlesional skin. Alignment of the patient's amplified MVK exons from lesional DSAP skin, histologically normal perilesional skin, and unaffected abdominal skin to the wild-type MVK reference sequence identified an identical heterozygous mutation in exon 5 (c.455:G>A), resulting in the predicted substitution of tyrosine for cysteine (p.C152Y) in a functional domain of MVK. Sequence tracings, alignments, and protein predictions were generated using CLC Bio software. JAAD Case Reports 2018 4, 340-343DOI: (10.1016/j.jdcr.2017.12.004) Copyright © 2017 American Academy of Dermatology, Inc. Terms and Conditions