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Nodular cutaneous amyloidosis and carpal tDnnel syndrome due to the amyloidogenic transthyretin His 114 variant

Content Provider	Scilit
Author	Mochizuki, Hitoshi Kamakura, Keiko Masaki, Toshihiro Hirata, Akira Tokuda, Takahiko Yazaki, Masahide Motoyoshi, Kazuo Ikeda, Shu-Ichi
Copyright Year	2001
Description	Journal: Amyloid This is the second report of transthyretin (TTR) amyloidosis in a patient who had ATTR Tyr114His diagnosed bymass 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 sensoy 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.
Related Links	http://www.tandfonline.com/doi/pdf/10.3109/13506120109007352
Ending Page	110
Page Count	6
Starting Page	105
ISSN	13506129
e-ISSN	17442818
DOI	10.3109/13506120109007352
Journal	Amyloid
Issue Number	2
Volume Number	8
Language	English
Publisher	Informa UK Limited
Publisher Date	2001-01-01
Access Restriction	Open
Subject Keyword	Journal: Amyloid Neuroimaging Nodular Cutaneous Cutaneous Amyloidosis Amyloidogenic Transthyretin Carpal Tdnnel Tdnnel Syndrome Syndrome Due
Content Type	Text
Subject	Internal Medicine

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