Virchows Archiv A

, Volume 417, Issue 4, pp 325–331 | Cite as

Skin deposits in hereditary cystatin C amyloidosis

  • Eiríkur Benedikz
  • Hannes Blöndal
  • Gunnar Gudmundsson


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.

Key words

Hereditary disease Amyloidosis Skin Cysteine proteinase inhibitor Immunohistochemistry 


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Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • Eiríkur Benedikz
    • 1
  • Hannes Blöndal
    • 1
  • Gunnar Gudmundsson
    • 2
  1. 1.Departments of Anatomy and PathologyUniversity of Iceland Medical SchoolReykjavíkIceland
  2. 2.Department of NeurologyUniversity HospitalReykjavíkIceland

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