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Updated: Feb 12, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

Atrophic nodular cutaneous amyloidosis.

Yuan Jiang^1,2, Qingtao Kong², Yun Hui²

¹Department of Dermatology, NanJing First Hospital, NanJing Medical University - Nanjing, China.

Anais Brasileiros De Dermatologia

|April 12, 2018

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This report details a rare case of atrophic nodular cutaneous amyloidosis, a skin-limited condition. Early diagnosis and monitoring are crucial for managing this rare form of amyloidosis.

Area of Science:

Dermatology
Pathology

Background:

Primary cutaneous amyloidosis is a skin-exclusive condition.
Nodular and atrophic nodular cutaneous amyloidosis are rare subtypes.

Observation:

A 52-year-old female presented with a two-year history of asymptomatic orange papules and nodules on her right abdomen.
Review of systems was negative for systemic involvement.

Findings:

The patient was diagnosed with atrophic nodular cutaneous amyloidosis based on clinical presentation and histopathology.
This represents the fourth reported case in medical literature.

Implications:

Atrophic nodular cutaneous amyloidosis has a potential (7%) to progress to systemic disease.
Routine follow-up is essential for early detection of potential progression.

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