Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma.
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 β-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 β-carotene levels, only a mild increase in retinol and lutein concentrations was observed. Increased β-carotene values were also found in the liver and the skin. The mechanisms underlying this hyper β-carotenemia remain undetermined.
Institute of Inherited Metabolic Disorders, Charles University in Prague, First Faculty of Medicine, General University Hospital , Prague , Czech Republic .
Helena
H
Hůlková
Jan
J
Svojanovský
Kamil
K
Sevela
Darja
D
Krusová
Josef
J
Hanuš
Petr
P
Vězda
Miroslav
M
Souček
Ivana
I
Márová
Josef
J
Feit
Iva
I
Zambo
Milica
M
Kovačevicova
Hana
H
Vlášková
Veronika
V
Kostrouchová
Petr
P
Novák
Zdenek
Z
Kostrouch
Milan
M
Elleder
D000368:Aged; D000682:Amyloid / Q000378:metabolism; D000686:Amyloidosis / Q000097:blood / Q000175:diagnosis*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D017495:Hyperpigmentation / Q000097:blood / Q000175:diagnosis*; D012880:Skin Pigmentation; D019207:beta Carotene / Q000097:blood
D000682:Amyloid; C518669:amyloid L, human; D019207:beta Carotene