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Updated: Jun 24, 2026
06:33
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
[Hereditary and non-hereditary cutaneous amyloidoses]
S Schreml1, J Schroeder, F Eder
1Klinik und Poliklinik für Dermatologie, Klinikum der Universität Regensburg, Franz-Josef-Strauss-Allee 11, 93042, Regensburg, Deutschland.
Der Pathologe
|March 26, 2009
Summary
Amyloidosis involves abnormal protein buildup. This article reviews cutaneous amyloidoses, focusing on types and diagnostic methods for skin amyloid deposition.
Area of Science:
- Pathology
- Biochemistry
Context:
- Amyloidosis is a diverse disease group characterized by pathological extracellular deposition of autologous proteins.
- Amyloidosis can be systemic or organ-limited, such as cutaneous forms, and can be acquired or hereditary.
- Subclassification includes primary (idiopathic) and secondary (disease-related) amyloidosis, based on the main protein constituent.
Purpose:
- To provide an up-to-date overview of different types of cutaneous amyloidoses.
- To discuss the diagnostic approaches for cutaneous amyloidosis, including histology and biochemical methods.
Summary:
- Cutaneous amyloidosis involves amyloid deposition along reticulin fibers (perireticulary) or collagen fibers (pericollagenous).
- Accurate diagnosis relies on clinical presentation, histology, electron microscopy, and biochemical-immunological differentiation.
- The precise etiopathogenesis of amyloid formation remains incompletely understood.
Impact:
- Enhances understanding of heterogeneous amyloidosis diseases.
- Aids in differentiating and diagnosing various forms of cutaneous amyloidosis.
- Highlights the need for further research into amyloid formation mechanisms.
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