Systemic AL amyloidosis with unusual cutaneous presentation
unmasked by carotenoderma

J 2014

Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma

HŮLKOVÁ, Helena; Jan SVOJANOVSKÝ; Kamil ŠEVELA; Darja KRUSOVÁ; Josef HANUŠ et. al.

Základní údaje

Originální název

Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma

Autoři

HŮLKOVÁ, Helena (203 Česká republika); Jan SVOJANOVSKÝ (203 Česká republika, garant, domácí); Kamil ŠEVELA (203 Česká republika, domácí); Darja KRUSOVÁ (203 Česká republika, domácí); Josef HANUŠ (203 Česká republika); Petr VĚZDA (203 Česká republika); Miroslav SOUČEK (203 Česká republika, domácí); Ivana MÁROVÁ (203 Česká republika); Josef FEIT (203 Česká republika); Iva ZAMBO (203 Česká republika, domácí); Milica KOVAČEVICOVA (203 Česká republika); Hana VLÁŠKOVÁ (203 Česká republika); Veronika KOSTROUCHOVÁ (203 Česká republika); Petr NOVÁK (203 Česká republika); Zdenek KOSTROUCH (203 Česká republika) a Milan ELLEDER (203 Česká republika)

Vydání

Amyloid, London, Informa Healthcare, 2014, 1350-6129

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

Genetika a molekulární biologie

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 2.010

Kód RIV

RIV/00216224:14110/14:00074885

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.3109/13506129.2013.851076

UT WoS

000335764200009

EID Scopus

2-s2.0-84896697821

Klíčová slova anglicky

Diffuse cutaneous involvement; hypercarotenemia; immunoglobulin lightchain amyloid lambda type

Štítky

EL OK

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 3. 11. 2014 12:59, Ing. Mgr. Věra Pospíšilíková

Anotace

V originále

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.

Návaznosti

MUNI/A/1012/2009, interní kód MU

Název: Optimalizace diagnostiky a terapie maligních chorob a komplikací, které tyto maligní nemoci provázejí, s využitím nových molekulárně biologických metod.

Investor: Masarykova univerzita, Optimalizace diagnostiky a terapie maligních chorob a komplikací, které tyto maligní nemoci provázejí, s využitím nových molekulárně biologických metod., DO R. 2020_Kategorie A - Specifický výzkum - Studentské výzkumné projekty

Citovat

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.

@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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