title: Nodular cutaneous amyloidosis and carpal tunnel syndrome due to the amyloidogenic transthyretin His 114 variant.
abstract: This is the second report of transthyretin (TTR) amyloidosis in a patient who had ATTR Tyr114His diagnosed by mass spectrometry and gene analysis. This case had some clinical features that differed from those of the first reported cases. The patient, 73-year-old man, complained of generalized cutaneous tubercula that had started at age 68. These tubercula gradually increased in size and became generalized. He felt a slight numbness in his extremities. Clinical and electrophysiological examinations revealed that he had bilateral carpal tunnel syndrome (CTS), whereas there was no clear evidence of sensory and/or motor polyneuropathy. Autonomic symptoms were not present. Biopsy studies revealed that both his tuberculum and his sural nerve contained TTR-related amyloid. In his sural nerve, amyloid deposits were observed mainly in the perineurium, not in the endoneurium, and there was no significant depletion of myelinated fibers. The features of this patient were clinically characterized by generalized cutaneous amyloid deposits and late-onset CTS with a lack of overt polyneuropathy and autonomic dysfunction. The unique clinical features in this case seemed to be consistent with the distribution of amyloid deposits.
authors.affiliation: Third Department of Internal Medicine, National Defense Medical College, 3-2, Namiki, Tokorozawa, Saitama 359-8513, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Mochizuki
authors.forename: K
authors.initials: K
authors.lastname: Kamakura
authors.forename: T
authors.initials: T
authors.lastname: Masaki
authors.forename: A
authors.initials: A
authors.lastname: Hirata
authors.forename: T
authors.initials: T
authors.lastname: Tokuda
authors.forename: M
authors.initials: M
authors.lastname: Yazaki
authors.forename: K
authors.initials: K
authors.lastname: Motoyoshi
authors.forename: S
authors.initials: S
authors.lastname: Ikeda
mesh_terms: D000368:Aged; D000682:Amyloid / Q000097:blood / Q000235:genetics; D000686:Amyloidosis / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D001706:Biopsy; D002349:Carpal Tunnel Syndrome / Q000235:genetics* / Q000473:pathology; D006639:Histidine / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D011228:Prealbumin / Q000032:analysis / Q000235:genetics*; D012871:Skin Diseases / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D013497:Sural Nerve / Q000473:pathology
chemical_list: D000682:Amyloid; D011228:Prealbumin; D006639:Histidine