Familial Biphasic Cutaneous Amyloidosis

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.

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.