eMedicine Specialties > Dermatology > Metabolic Diseases

Amyloidosis, Nodular Localized Cutaneous

Author: Marion C Miethke, MD, Clinical Assistant Professor, Department of Internal Medicine, Section of Dermatology, University of Washington
Coauthor(s): Gregory J Raugi, MD, PhD, Professor, Department of Internal Medicine, Division of Dermatology, University of Washington at Seattle; Chief, Dermatology Section, Primary and Specialty Care Service, Veterans Administration Medical Center of Seattle
Contributor Information and Disclosures

Updated: Jan 23, 2007

Introduction

Background

Localized cutaneous amyloidosis (LCA) refers to a condition characterized by the deposition of amyloid or amyloidlike proteins in the dermis. LCA encompasses several conditions characterized by amyloid deposition, including macular amyloidosis and lichen amyloidosis (see Amyloidosis, Macular and Amyloidosis, Lichen). Nodular localized cutaneous amyloidosis (NLCA) is the rarest type of LCA and is distinct from the other two.

Gottron first reported NLCA in 1950. Since then, approximately 50 patients have been reported in the North American, European, and Asian literature. This entity also is termed amyloidosis cutis nodularis atrophicans. By definition, NLCA describes a primary disease of the skin, although lesions occasionally appear similar to the skin manifestations of systemic amyloidosis.

Pathophysiology

As a term, "amyloid" was used historically to define proteins that shared similar microscopic characteristics and affinity for certain stains. Research has revealed that "amyloid" proteins are heterogeneous. The various diseases characterized by deposition of "amyloid" proteins are similarly heterogeneous but have in common the deposits of fibrillar proteins characterized as "amyloid" in the dermis. In NLCA, the amyloid is believed to derive from local plasma cells, in contrast to lichenoid or macular amyloidosis, which have keratinocyte-derived amyloid.

In NLCA, plasma cells produce immunoglobulin light chains that are precursors to the amyloid fibril protein(s) termed amyloid L. Reports differ regarding the clonality of this population of plasma cells. In some instances, plasma cells have been monoclonal, suggesting that NLCA is a neoplastic disorder; however, in another instance, plasma cells demonstrated polyclonality, which usually is a feature of a more reactive process.

Frequency

United States

Incidence and prevalence of LCA in the United States are not known; however, the scarcity of reported patients with LCA indicates that the condition may be rare.

International

Despite a paucity of reported patients, LCA, although rare, is represented in the American, Asian, and European literature.

Mortality/Morbidity

NLCA typically is benign and limited to the skin. Reported rates of progression to systemic disease are derived from case series with small numbers of patients; these rates vary from 7% to nearly 50%. Several occurrences have been associated with Sjögren syndrome.

Race

Epidemiologic data can be difficult to establish when so few patients are reported. No specific racial, ethnic, or geographic group appears more prone than another to developing NLCA.

Sex

Of the first 13 patients described in the Japanese literature, 12 were women; however, this disproportionate ratio has not been seen consistently. In a subsequent series of 12 patients, the male-to-female ratio was equal.

Age

Patients reportedly range in age from 33-86 years. Although numbers are small, reports indicate that NLCA is likely to occur during adulthood.

Clinical

History

  • NLCA lesions usually are asymptomatic.
  • Patients can present with single or multiple lesions.
  • In some reports, lesions were present for several years before patients sought medical attention.
  • Troublesome aspects of NLCA primarily result from patient concerns about appearance, although plaques eventually fissured in one patient in whom the plantar aspects of the feet were affected.
  • Several cases of this rare disease have been reported in patients with Sjögren syndrome.

Physical

  • Firm nodules can present anywhere on the skin, including the face, scalp, extremities, trunk, and genitalia.
  • Nodules vary from a few millimeters to a few centimeters.
  • Nodules appear pink to brown or red.
  • Overlying epidermal atrophy has been described.
  • Other terms that describe the various lesions of NLCA include waxy, purpuric, yellowish, or bullous.
  • Lesions tend not to ulcerate.
  • NLCA lacks extracutaneous findings by definition; however, one patient reported to have NLCA had amyloid deposits in the rectum.
  • Macroglossia, a typical feature of systemic amyloidosis, is not seen in NLCA.

Causes

The cause of NLCA is not known, although amyloid is derived from a localized infiltrate of plasma cells.

More on Amyloidosis, Nodular Localized Cutaneous

Overview: Amyloidosis, Nodular Localized Cutaneous
Differential Diagnoses & Workup: Amyloidosis, Nodular Localized Cutaneous
Treatment & Medication: Amyloidosis, Nodular Localized Cutaneous
Follow-up: Amyloidosis, Nodular Localized Cutaneous
Multimedia: Amyloidosis, Nodular Localized Cutaneous
References
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References

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Further Reading

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Keywords

amyloidosis cutis nodularis atrophicans, nodular localized cutaneous amyloidosis

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Contributor Information and Disclosures

Author

Marion C Miethke, MD, Clinical Assistant Professor, Department of Internal Medicine, Section of Dermatology, University of Washington
Marion C Miethke, MD is a member of the following medical societies: Phi Beta Kappa
Disclosure: Nothing to disclose.

Coauthor(s)

Gregory J Raugi, MD, PhD, Professor, Department of Internal Medicine, Division of Dermatology, University of Washington at Seattle; Chief, Dermatology Section, Primary and Specialty Care Service, Veterans Administration Medical Center of Seattle
Gregory J Raugi, MD, PhD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Medical Editor

C Lisa Kauffman, MD, FACP, Professor, Chief, Division of Dermatology, Departments of Medicine and Pathology, Georgetown University Medical Center
C Lisa Kauffman, MD, FACP is a member of the following medical societies: American Academy of Dermatology, American Medical Association, Royal Society of Medicine, Society for Investigative Dermatology, and Women's Dermatologic Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Richard P Vinson, MD, Assistant Clinical Professor, Department of Dermatology, Texas Tech University School of Medicine; Consulting Staff, Mountain View Dermatology, PA
Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Warren R Heymann, MD, Head, Division of Dermatology, Professor, Department of Internal Medicine, University of Medicine and Dentistry of New Jersey
Warren R Heymann, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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