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Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy

Fig 2

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

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.

Fig 2