title: Skin and conjunctive biopsies as a useful diagnostic tool in tomaculous neuropathy.
abstract: In nerve fascicles from skin and conjunctive biopsies from two siblings with hereditary chronic sensory-motor neuropathy with tomaculous changes (tomaculous neuropathy) we describe similar abnormalities to those found in sural nerve, consisting in thickenings of nerve fibres, with redundant loops of myelin and concentric apposition of enormous number of myelin lamellae. Our data demonstrate that, as previously reported in many neurometabolic or other abiotrophic diseases of the nervous system, skin and conjunctival biopsies may be a useful diagnostic tool also in this disorder, mainly when the diagnosis has to be confirmed in other family members, after one has been fully investigated by nerve biopsy, and when less invasive molecular genetic analyses on peripheral blood DNA have failed to reveal any known mutation associated with the disease.
authors.affiliation: Unit of Neurometabolic Diseases, Medical School, University of Siena, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
mesh_terms: D001706:Biopsy; D003228:Conjunctiva / Q000473:pathology / Q000648:ultrastructure*; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000175:diagnosis* / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D009412:Nerve Fibers / Q000473:pathology / Q000648:ultrastructure; D012867:Skin / Q000473:pathology / Q000648:ultrastructure*