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Updated: Feb 14, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
An unusual presentation of primary cutaneous amyloidosis
Taru Garg, Anita Marak1, Riaz Ahmed
1Department of Dermatology and STD, Lady Hardinge Medical College. New Delhi, India. anita.marak@gmail.com.
Abstract:
Primary localized cutaneous amyloidosis refers to a group of disorders characterized by deposition of amyloid in the dermis without any systemic involvement. It comprises the following clinical types: macular, lichenoid, nodular, and biphasic. There are also rare variants such as amyloidosis cutis dyscromica and poikiloderma-like cutaneous amyloidosis. We report a case of primary cutaneous amyloidosis in a 17-year-old boy with unusual pigmentation of various patterns (reticulate and diffuse pigmentation with mottling and rippling at places) and hypopigmented atrophic macules. Our patient also had nail, oral, and mucosal pigmentation that have not been described. Amyloid deposits were shown histopathologically in both hyperpigmented and hypopigmented macules.
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