| HŮLKOVÁ, Helena, Jan SVOJANOVSKÝ, Kamil ŠEVELA, Darja KRUSOVÁ, Josef HANUŠ, Petr VĚZDA, Miroslav SOUČEK, Ivana MÁROVÁ, Josef FEIT, Iva ZAMBO, Milica KOVAČEVICOVA, Hana VLÁŠKOVÁ, Veronika KOSTROUCHOVÁ, Petr NOVÁK, Zdenek KOSTROUCH a Milan ELLEDER. Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma. Amyloid. London: Informa Healthcare, 2014, roč. 21, č. 1, s. 57-61. ISSN 1350-6129. Dostupné z: https://dx.doi.org/10.3109/13506129.2013.851076. |
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@article{1139252,
author = {Hůlková, Helena and Svojanovský, Jan and Ševela, Kamil and Krusová, Darja and Hanuš, Josef and Vězda, Petr and Souček, Miroslav and Márová, Ivana and Feit, Josef and Zambo, Iva and Kovačevicova, Milica and Vlášková, Hana and Kostrouchová, Veronika and Novák, Petr and Kostrouch, Zdenek and Elleder, Milan},
article_location = {London},
article_number = {1},
doi = {http://dx.doi.org/10.3109/13506129.2013.851076},
keywords = {Diffuse cutaneous involvement; hypercarotenemia; immunoglobulin lightchain amyloid lambda type},
language = {eng},
issn = {1350-6129},
journal = {Amyloid},
title = {Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma},
volume = {21},
year = {2014}
}
TY - JOUR
ID - 1139252
AU - Hůlková, Helena - Svojanovský, Jan - Ševela, Kamil - Krusová, Darja - Hanuš, Josef - Vězda, Petr - Souček, Miroslav - Márová, Ivana - Feit, Josef - Zambo, Iva - Kovačevicova, Milica - Vlášková, Hana - Kostrouchová, Veronika - Novák, Petr - Kostrouch, Zdenek - Elleder, Milan
PY - 2014
TI - Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma
JF - Amyloid
VL - 21
IS - 1
SP - 57-61
EP - 57-61
PB - Informa Healthcare
SN - 13506129
KW - Diffuse cutaneous involvement
KW - hypercarotenemia
KW - immunoglobulin lightchain amyloid lambda type
N2 - 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-type apoA-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 apolipoprotein A-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 deposits were positive for lambda light chain proteins, the immunodetection of apoA-I and transthyretin varied significantly among the visceral amyloid deposits. Although the patient exhibited a 1000-fold increase in serum b-carotene levels, only a mild increase in retinol and lutein concentrations was observed. Increased b-carotene values were also found in the liver and the skin. The mechanisms underlying this hyper beta-carotenemia remain undetermined.
ER -
HŮLKOVÁ, Helena, Jan SVOJANOVSKÝ, Kamil ŠEVELA, Darja KRUSOVÁ, Josef HANUŠ, Petr VĚZDA, Miroslav SOUČEK, Ivana MÁROVÁ, Josef FEIT, Iva ZAMBO, Milica KOVAČEVICOVA, Hana VLÁŠKOVÁ, Veronika KOSTROUCHOVÁ, Petr NOVÁK, Zdenek KOSTROUCH a Milan ELLEDER. Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma. \textit{Amyloid}. London: Informa Healthcare, 2014, roč.~21, č.~1, s.~57-61. ISSN~1350-6129. Dostupné z: https://dx.doi.org/10.3109/13506129.2013.851076.
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