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Primary Cutaneous Amyloidosis with Familial Background

Park SB, Lee Y, Seo YJ, Im M, Lee JH

  • KMID: 1427472
  • Korean J Dermatol.
  • 2013 May;51(5):353-355.
Primary localized cutaneous amyloidosis is classified as macular, lichen, and rarely nodular amyloidosis according to clinical manifestation. Most cases are sporadic, but several cases have been reported to be familial...
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Linear Macular Amyloidosis Along the Lines of Blaschko

Ko EJ, Choi SY, Park KY, Li K, Kim BJ, Seo SJ, Kim MN, Hong CK

  • KMID: 2088723
  • Korean J Dermatol.
  • 2013 Jul;51(7):536-538.
The primary localized cutaneous amyloidosis (PLCA) is classified into three types: macular amyloidosis, lichen amyloidosis, and nodular amyloidosis. Macular amyloidosis is characterized by pruritic, hyperpigmented macules and is most commonly...
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Gastric Outlet Obstruction Due to Gastric Amyloidosis Mimicking Malignancy in a Patient with Ankylosing Spondylitis

Seon CS, Park YS, Jung YM, Choi JH, Son BK, Ahn SB, Kim SH, Jo YJ

  • KMID: 2165427
  • Clin Endosc.
  • 2013 Nov;46(6):651-655.
Amyloidosis is a group of disorders characterized by the extracellular accumulation of insoluble, fibrillar proteins in various organs and tissues. It is classified, on the basis of the identity of...
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Familial Amyloidotic Polyneuropathy With Transthyretin Gene Mutation

Kim YJ, Lee J, Park J, Kim S, Jung I, Lim HJ, Hwang TS, Oh J

  • KMID: 2343408
  • J Korean Neurol Assoc.
  • 2011 Aug;29(3):220-223.
Familial amyloidotic polyneuropathy (FAP) is a rare hereditary amyloidosis that is characterized by slowly progressive peripheral polyneuropathy with other systemic involvement. More than 100 amyloidogenic transthyretin gene mutations have been...
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A Case of Familial Cardiac Amyloidosis

Kim YJ, Choi SO, Kim MK, Lim CH, Kim JS, Chung WB, Shin JW, Park CS, Oh YS, Youn HJ, Kim SJ, Chung WS, Hong SJ

Amyloidosis is defined by the extracellular deposition of fibrillar proteinacious material that binds Congo red dye. Amyloid fibrils can be deposited locally, but can involve virtually every organ system of...
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The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene

Park KJ, Park JH, Park JH, Cho EB, Kim BJ, Kim JW

Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant hereditary disease characterized by corneal lattice dystrophy, peripheral neuropathy, and cutis laxa. So far, no Korean patients with HGA have been reported....
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