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Updated: Mar 8, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Familial Biphasic Cutaneous Amyloidosis.

K G Singh, Anoop K Tripathi, S C Gupta

    Indian Journal of Dermatology, Venereology and Leprology
    |February 2, 2017
    PubMed
    Summary

    Familial biphasic cutaneous amyloidosis presents as an inherited skin condition causing itching and skin changes. This study documents its occurrence in a multi-generational Bengali family.

    Area of Science:

    • Dermatology
    • Genetics
    • Internal Medicine

    Background:

    • Familial biphasic cutaneous amyloidosis (FBCA) is a rare inherited skin disorder.
    • It is characterized by amyloid deposition in the skin, leading to specific clinical manifestations.

    Observation:

    • A Bengali family exhibited familial biphasic cutaneous amyloidosis in 6 of 11 members over 3 generations.
    • The propositus presented with pruritus, skin thickening, and hyperpigmentation, notably on the legs and thighs.
    • Affected individuals showed hyperkeratosis of palms and soles, with sparing of the face, neck, scalp, and oral mucosa.

    Findings:

    • The study identified a familial pattern of inheritance for biphasic cutaneous amyloidosis.
    • Clinical presentation included characteristic skin lesions and hyperkeratosis, without systemic involvement like lymphadenopathy or neuropathy.

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    Implications:

    • This case report expands the understanding of familial biphasic cutaneous amyloidosis in diverse populations.
    • Highlights the importance of genetic counseling and early diagnosis in affected families.
    • Contributes to the literature on inherited dermatoses and their clinical spectrum.