Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma

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Publikace nespadá pod Ústav výpočetní techniky, ale pod Lékařskou fakultu. Oficiální stránka publikace je na webu muni.cz.
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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

Rok publikování 2014
Druh Článek v odborném periodiku
Časopis / Zdroj Amyloid
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
Doi http://dx.doi.org/10.3109/13506129.2013.851076
Obor Genetika a molekulární biologie
Klíčová slova Diffuse cutaneous involvement; hypercarotenemia; immunoglobulin lightchain amyloid lambda type
Popis 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.
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