Abstract-Text (inkl. Referenzen)
Introduction:
We received a skin sample from the second finger of a 41 year old male patient with a positive family history of HNPP, amputated due to an injury.
Methods:
Besides histological examination of formalin-fixed, paraffin embedded tissue, we performed electron microscopy on glutaraldehyde-fixed, epon-embeded material to look for ultrastructural abnormalities.
Results:
The skin biopsy showed normal epidermal und dermal architecture with multiple dermal nerve fascicles and sensory organs (Pacini bodies). Electron microscopy revealed signs of chronic de- and remyelination, such as thinly myelinated axons, onion-bulb formations and node of Ranvier abnormalities as well as a moderate loss of unmyelinated fibers and a probably secondary axonal component. No tomaculous fibers were found.
Conclusions:
Dermal nerve fascicles of the patient showed a chronic demyelinating neuropathy, which, although lacking tomaculous fibers, is in line with the diagnosis of HNPP. Our findings confirm and extend previous reports on patterns skin nerve fiber involvement in HNPP.