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Updated: Mar 8, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Familial Biphasic Cutaneous Amyloidosis
Abstract:
A Bengali family had familial biphasic cutaneous amyloidosis in 6 of the 11 members in 3 generations. The propositti developed intense itching, thickening and pigmentation of the skin associated with discrete, brownish black papules bilaterally on the legs, ankles, popliteal fossae and extensor aspects of the thighs. Face, neck, scalp and oral mucosa were spared. There was hyperkeratosis of the palms and soles. None of them had lymphadenopathy, macroglossia, hepatosplenomegaly, neuropathy or gingival hypertrophy.
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