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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Bilateral Limbal Keratin-Associated Amyloidosis
Norman C Charles1,2, Irina Belinsky1, Habeeb Ahmad1
1Department of Ophthalmology.
Abstract:
Conjunctival amyloid is usually of the immunoglobulin light chain (AL) variety. The authors report an exceptional case of bilateral limbal amyloid deposits that were identified by mass spectrometry as keratin-related specifically regarding to basal keratinocyte keratins 5 and 14. Cytokeratin-related amyloid has been described by immunohistochemical analysis of formalin-fixed cutaneous and mucous membrane lesions but not ocular tissues. The conjunctival lesion in the right eye contained intraepithelial dyskeratotic cells that extended to the surface, causing a lacy leukoplakia on clinical examination. The authors excluded the diagnosis of hereditary benign intraepithelial dyskeratosis in this patient. Collection of patient data and all protected patient health information was compliant with the Health Insurance Portability and Accountability Act.

