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. Author manuscript; available in PMC: 2015 Nov 1.
Published in final edited form as: J Invest Dermatol. 2015 Jan 23;135(5):1294–1302. doi: 10.1038/jid.2015.10

Figure 4. Cutaneous presentation, histopathology and mutation detection in a pediatric patient with PXE.

Figure 4

(a) Hyperpigmentation on the trunk (left) and yellowish papules in the axillary fossa (upper right); Aberrant calcification in the dermis detected by von Kossa stain (bottom right); (b) A heterozygous mutation, p.S479F, in the ENPP1 gene revealed by mutation analysis (arrow); (c) Conservation of the serine-479 during evolution from zebrafish to human (outlined). Scale bar = 100 mm.