Skin deposits in hereditary cystatin C amyloidosis

Virchows Archiv. A, Pathological Anatomy and Histopathology
E BenedikzG Gudmundsson

Abstract

Clinically normal skin from 47 individuals aged 9-70 years was investigated. Cystatin C amyloid deposits were found in various locations of the skin by light and/or electron microscopy, in all 12 patients with a clinical history of hereditary cystatin C amyloidosis (HCCA). Six asymptomatic individuals, who had the Alu 1 restriction fragment length polymorphism (RFLP) marker reported to cosegregate with the disease, also had cystatin C amyloid deposits in the skin. Three asymptomatic individuals (age 17-46) belonging to the HCCA families were without amyloid in the skin but had Alu 1 RFLP marker. Skin from 12 individuals who served as controls and skin from 14 close relatives of the patients was negative for amyloid. Punch biopsy of the skin is a simple procedure which is of value for the diagnosis of HCCA, even before the appearance of clinical symptoms. This method might also be of use in following progression of the disease.

References

Nov 1, 1979·Scandinavian Journal of Clinical and Laboratory Investigation·H Löfberg, A O Grubb
Sep 10, 1988·Lancet·A PalsdottirO Jensson
Jun 1, 1987·International Journal of Dermatology·C K Wong
Apr 1, 1985·Archives of Dermatology·S M Breathnach
Jan 1, 1972·Brain : a Journal of Neurology·G GudmundssonO Bjarnason
Jul 1, 1970·Archives of Dermatology·M H Brownstein, E B Helwig
Jun 5, 1980·The New England Journal of Medicine·G G Glenner
Apr 1, 1981·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·S M HsuH Fanger
Oct 1, 1981·Neurology·A Rubinow, A S Cohen
Jul 1, 1984·The Journal of Pathology·A M Khan, F Walker

❮ Previous
Next ❯

Citations

Feb 1, 1994·Molecular Neurobiology·J GhisoB Frangione
Jan 1, 1992·Molecular Neurobiology·T Wisniewski, B Frangione
Nov 28, 2002·Advanced Drug Delivery Reviews·Jorge Ghiso, Blas Frangione
Feb 15, 1994·Proceedings of the National Academy of Sciences of the United States of America·M Abrahamson, A Grubb
Jun 13, 2000·Alzheimer Disease and Associated Disorders·B FrangioneJ Ghiso
Dec 1, 1994·Histopathology·E Benedikz
Jan 1, 1992·Clinical Neurology and Neurosurgery·J Haan, R A Roos
Dec 18, 2004·Critical Reviews in Clinical Laboratory Sciences·Michele Mussap, Mario Plebani
Jun 8, 2000·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·I Olafsson, A Grubb
Feb 25, 2005·The British Journal of Dermatology·S Kiuru-EnariM Haltia
Apr 15, 2006·Brain Pathology·A PalsdottirL Thorsteinsson
Jan 23, 1999·The American Journal of Pathology·L Hamidi AslM D Benson
Apr 23, 2002·The British Journal of Dermatology·Tibor HarkanyS Virágh
Jan 10, 2017·Laboratory Investigation; a Journal of Technical Methods and Pathology·Asbjorg Osk SnorradottirBirkir Thor Bragason
Jan 20, 2012·The American Journal of Dermatopathology·Angel Fernandez-Flores
Sep 15, 2001·The Journal of Biological Chemistry·J A GhisoB Frangione
Jul 31, 2002·Brain Pathology·Tamas ReveszBlas Frangione
Jun 20, 2002·Journal of Neuropathology and Experimental Neurology·Sari Kiuru-EnariMatti Haltia
Mar 25, 2021·Nature Communications·Michael E MarchHakon Hakonarson

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.