Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10284281" target="_blank" >RIV/00216208:11110/14:10284281 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/61388971:_____/14:00440682 RIV/00216224:14110/14:00074885 RIV/00216305:26310/14:PU107282 RIV/00064165:_____/14:10284281

Výsledek na webu

<a href="http://dx.doi.org/10.3109/13506129.2013.851076" target="_blank" >http://dx.doi.org/10.3109/13506129.2013.851076</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3109/13506129.2013.851076" target="_blank" >10.3109/13506129.2013.851076</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma

Popis výsledku v původním jazyce

We present a case study of an elderly woman with systemic lambda-type AL amyloidosis that featured unusually extensive cutaneous involvement. The case initially presented with a sudden hyper beta-carotenemia with carotenoderma that instigated the clinical examination including skin biopsy. A diagnosis of systemic amyloidosis was made. Immunohistochemistry and Western-blot analysis indicated the presence of lambda light chain proteins in skin amyloid deposits. However, notable co-deposition of wild-typeapoA-I and transthyretin was observed which caused initial diagnostic confusion. Proteomic analysis of microdissected skin amyloid deposits by mass spectrometry confirmed lambda light chain proteins in amyloid deposits and co-deposition of apolipoproteinA-IV and serum amyloid P-component. The patient died from renal failure caused by amyloid nephropathy combined with analgesic nephropathy. The autopsy disclosed vascular, cardiac, renal and pulmonary amyloid deposition. While all amyloid

Název v anglickém jazyce

Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma

Popis výsledku anglicky

We present a case study of an elderly woman with systemic lambda-type AL amyloidosis that featured unusually extensive cutaneous involvement. The case initially presented with a sudden hyper beta-carotenemia with carotenoderma that instigated the clinical examination including skin biopsy. A diagnosis of systemic amyloidosis was made. Immunohistochemistry and Western-blot analysis indicated the presence of lambda light chain proteins in skin amyloid deposits. However, notable co-deposition of wild-typeapoA-I and transthyretin was observed which caused initial diagnostic confusion. Proteomic analysis of microdissected skin amyloid deposits by mass spectrometry confirmed lambda light chain proteins in amyloid deposits and co-deposition of apolipoproteinA-IV and serum amyloid P-component. The patient died from renal failure caused by amyloid nephropathy combined with analgesic nephropathy. The autopsy disclosed vascular, cardiac, renal and pulmonary amyloid deposition. While all amyloid

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

ISSN

1350-6129

e-ISSN

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Svazek periodika

21

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

5

Strana od-do

57-61

Kód UT WoS článku

000335764200009

EID výsledku v databázi Scopus

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