Xenbase Image ID: 144196

Figure 2 Phenotype of affected individuals with PRDM12 mutations. (a) Mutilation of tongue and lips, corneal opacity, scarring and mutilation of distal phalanges. Patients P17 and P18 (family J) represented a milder phenotype with sequelae such as facial scratching and diabetes-like foot ulcers. Consent to publish images of the individuals was obtained. (b) Sural nerve biopsy specimens showing selective loss of small-caliber myelinated axons. The total numbers of myelinated fibers per square millimeter were 4,692 (P6), 4,438 (P10) and 9,609 (healthy control). Semithin sections were stained with toluidine blue; scale bars, 20 μm. (c) Skin biopsies labeled with PGP9.5 (pan-neuronal marker), calcitonin gene-related peptide (CGRP, labeling a subpopulation of nociceptive primary afferents) and vasoactive intestinal peptide (VIP, a marker for autonomic nerve fibers). Although ample intraepidermal nerve endings (red arrowheads) were observed in the biopsy from a healthy donor, nerve fibers did not cross the dermal-epidermal border (red dashed line) in the affected subject’s biopsy. In the biopsy from P11, dermal CGRP-immunoreactive nerve fibers were almost absent, and sweat glands were innervated by VIP-immunoreactive fibers, but at a reduced density. Scale bars, 50 μm (top two rows) or 20 μm (bottom row). Image published in: Auer-Grumbach M et al. (2015) Copyright © 2015. Image reproduced with permission of the Publisher, Macmillan Publishers Ltd. Larger Image Printer Friendly View

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