caa a22 4500 465753914 CHVBK 20180323111841.0 cr unu---uuuuu 170327e19900701xx s 000 0 eng 10.1007/BF01605784 doi (NATIONALLICENCE)springer-10.1007/BF01605784 Skin deposits in hereditary cystatin C amyloidosis [Elektronische Daten] [Eiríkur Benedikz, Hannes Blöndal, Gunnar Gudmundsson] Summary: 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. Springer-Verlag, 1990 Hereditary disease nationallicence Amyloidosis nationallicence Skin nationallicence Cysteine proteinase inhibitor nationallicence Immunohistochemistry nationallicence Benedikz Eiríkur Departments of Anatomy and Pathology, University of Iceland Medical School, Reykjavík, Iceland aut Blöndal Hannes Departments of Anatomy and Pathology, University of Iceland Medical School, Reykjavík, Iceland aut Gudmundsson Gunnar Department of Neurology, University Hospital, Reykjavík, Iceland aut Virchows Archiv A Springer-Verlag 417/4(1990-07-01), 325-331 0174-7398 417:4<325 1990 417 428 https://doi.org/10.1007/BF01605784 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01605784 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Benedikz Eiríkur Departments of Anatomy and Pathology, University of Iceland Medical School, Reykjavík, Iceland aut NATIONALLICENCE 700 1- Blöndal Hannes Departments of Anatomy and Pathology, University of Iceland Medical School, Reykjavík, Iceland aut NATIONALLICENCE 700 1- Gudmundsson Gunnar Department of Neurology, University Hospital, Reykjavík, Iceland aut NATIONALLICENCE 773 0- Virchows Archiv A Springer-Verlag 417/4(1990-07-01), 325-331 0174-7398 417:4<325 1990 417 428 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer