Epidermal nociceptive innervation in FD patients with classical GLA mutation and a control subject.

<p>Leg epidermal innervation disclosed by confocal microscope (x40) in an age-matched control subject (A), female (B) and male (C) FD patients. Nerve fibres in red and collagen staining in green. Free-ending PGP immunoreactive nociceptive fibres crossing the dermal–epidermal junction marked by collagen (arrow) are evident in the epidermis of the control (A). FD patients showed a decrease in these fibres, which mainly characterized the male (C) and to a lesser extent the female (B) patient.</p

Clinical and laboratory findings in patients with Fabry disease.

<p>Clinical and laboratory findings in patients with Fabry disease.</p

Skin Gb3 deposits in FD patients with classical GLA mutation.

<p>Confocal microscope (x40 in A and B; x60 in C) study of Gb3 in skin vessels (A, AI and AII), sweat gland tubules (B, BI and BII) and arrector pilorum muscle (C, CI and CII). A) Skin arterioles showed no Gb3 deposits in the control subject (A). However, these abnormal deposits were abundant in the male FD patient in the wall of the arteriole and its endothelium (AII) and less evident in the female patient (AI); B) Sweat gland tubules of the control showed no Gb3 deposits (B), which were found in the male with FD (BII). The female showed nearly absent Gb3 deposits inside the sweat gland tubules (BI); C) Arrector pilorum muscle cells of the control have no Gb3 deposits (C) but they were found in the male (CII) and less in female FD patient (CI).</p

Genetic analysis in patients with Fabry disease.

<p>Genetic analysis in patients with Fabry disease.</p

Comparison between patients with classical (skin Gb3 positive) and non-classical (Gb3 negative) GLA mutations.

<p>Comparison between patients with classical (skin Gb3 positive) and non-classical (Gb3 negative) GLA mutations.</p