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Updated: Jun 21, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

Primary systemic amyloidosis: three different presentations.

Vikrant Saoji¹, Sanjiv Chaudhari, Dilip Gohokar

¹Department of Dermatology, Jawaharlal Nehru Medical College, Sawangi, Meghe, Wardha, India. vikrantsaoji@hotmail.com

Indian Journal of Dermatology, Venereology and Leprology

|July 9, 2009

Summary

This summary is machine-generated.

Primary systemic amyloidosis, a rare condition, can manifest with varied symptoms. This report details three cases, highlighting diagnostic clues like purpuric lesions, waxy facial lesions, and macroglossia.

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Rapid Generation of Amyloid from Native Proteins In vitro

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Published on: December 5, 2013

Area of Science:

Dermatology
Hematology
Pathology

Background:

Primary systemic amyloidosis (PSA) is a rare plasma cell dyscrasia.
It is characterized by extracellular deposition of misfolded immunoglobulin light chains.
PSA can present with diverse clinical manifestations, often mimicking other conditions.

Observation:

Three cases of PSA are presented: one associated with multiple myeloma and two without hematological abnormalities.
The patient with multiple myeloma presented solely with purpuric lesions.
Two patients without hematological abnormalities showed typical waxy facial lesions, cutis verticis gyrata, and carpal tunnel syndrome.

Findings:

Macroglossia was a consistent finding across all three cases.
Diagnosis was confirmed via biopsy using hematoxylin and eosin and Congo red staining.
Standard hematological investigations were normal in two of the three patients.

Implications:

This case series underscores the varied dermatological presentations of primary systemic amyloidosis.
Early recognition of subtle skin findings and associated symptoms is crucial for timely diagnosis.
Further research into diagnostic modalities, including polarized microscopy, is warranted.