Arfgeng heilablæðing II : útfellingar sýstatín-C mýlildisefnis í húð

Abstract

Clinically normal skin from 14 individuals with the diagnosis of Hereditary Cystatin C Amyloidosis (HCCA) was investigated. Their age ranged from 14-53 years and three of them had no clinical history or signs of the disease. In seven cases the diagnosis was verified post mortem. Cystatin C amyloid deposits were found in all 14 cases. Skin from 11 unaffected relatives and 10 unrelated individuals, who served as controls, was negative for amyloid in all cases. Punch biopsy of the skin is a simple procedure and appears to be a valid method for diagnosis of HCCA, even before the appearance of clinical symptoms.

Í þessari grein verður lýst greiningu mýlildisútfellinga í húð 14 einstaklinga með arfgengan heilablæðingarsjúkdóm. Notagildi húðsýna til greiningar sjúkdómsins snemma í sjúkdómnum verður rætt.