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Amyloidosis, Nodular Localized Cutaneous
Updated: Jan 5, 2010
Introduction
Background
Localized cutaneous amyloidosis (LCA) refers to a condition characterized by the deposition of amyloid or amyloid-like proteins in the dermis. Localized cutaneous amyloidosis encompasses several conditions characterized by amyloid deposition, including macular amyloidosis and lichen amyloidosis. Nodular localized cutaneous amyloidosis (NLCA) is the rarest type of localized cutaneous amyloidosis and is distinct from the other two.
Gottron first reported nodular localized cutaneous amyloidosis in 1950. Since then, approximately 60 patients have been reported in the North American, European, and Asian literature. This entity also is termed amyloidosis cutis nodularis atrophicans or tumefactive amyloid. By definition, nodular localized cutaneous amyloidosis 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 nodular localized cutaneous amyloidosis, the amyloid is believed to derive from local plasma cells, in contrast to lichenoid or macular amyloidosis, which have keratinocyte-derived amyloid.
In nodular localized cutaneous amyloidosis, 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 nodular localized cutaneous amyloidosis is a neoplastic disorder1 ; 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 localized cutaneous amyloidosis in the United States are not known; however, the scarcity of reported patients with localized cutaneous amyloidosis indicates that the condition may be rare.
International
Despite a paucity of reported patients, localized cutaneous amyloidosis, although rare, is represented in the American, Asian, and European literature.
Mortality/Morbidity
Nodular localized cutaneous amyloidosis typically is benign and limited to the skin. However, lesions are more often persistent. 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%.2,3 As many as 25% of reported cases have been associated with Sjögren syndrome. Some speculate that these 2 disorders have may have a shared pathogenesis.4,5,6,7,8
Case reports have also correlated nodular localized cutaneous amyloidosis with other autoimmune disorders such as CREST syndrome (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia syndrome), primary biliary cirrhosis, rheumatoid arthritis, and systemic lupus erythematosus.9
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 nodular localized cutaneous amyloidosis.
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. Other series have reported equal or nearly equal male-to-female ratios.
Age
Patients reportedly range in age from 33-86 years. The mean age of onset has been reported to be 55 years. Although numbers are small, reports indicate that nodular localized cutaneous amyloidosis is likely to occur during adulthood.
Clinical
History
- Nodular localized cutaneous amyloidosis 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 nodular localized cutaneous amyloidosis primarily result from patient concerns about appearance, although plaques eventually fissured in one patient in whom the plantar aspects of the feet were affected.
- Up to 25% of reported cases of NLCA have been in patients with Sjögren syndrome.
Physical
- Firm nodules can present anywhere on the skin, including the face, scalp, extremities, trunk, and genitalia.10,11,12
- 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 nodular localized cutaneous amyloidosis include waxy, purpuric, yellowish, or bullous.
- Lesions tend not to ulcerate.
- Nodular localized cutaneous amyloidosis lacks extracutaneous findings by definition; however, one patient reported to have nodular localized cutaneous amyloidosis had amyloid deposits in the rectum.
- Macroglossia, a typical feature of systemic amyloidosis, is not seen in nodular localized cutaneous amyloidosis.
Causes
The cause of nodular localized cutaneous amyloidosis is not known, although the amyloid protein is derived from a localized infiltrate of plasma cells.
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References
Hagari Y, Mihara M, Hagari S. Nodular localized cutaneous amyloidosis: detection of monoclonality of infiltrating plasma cells by polymerase chain reaction. Br J Dermatol. Oct 1996;135(4):630-3. [Medline].
Kalajian AH, Waldman M, Knable AL. Nodular primary localized cutaneous amyloidosis after trauma: a case report and discussion of the rate of progression to systemic amyloidosis. J Am Acad Dermatol. Aug 2007;57(2 Suppl):S26-9. [Medline].
Woollons A, Black MM. Nodular localized primary cutaneous amyloidosis: a long-term follow-up study. Br J Dermatol. Jul 2001;145(1):105-9. [Medline].
Inazumi T, Hakuno M, Yamada H, et al. Characterization of the amyloid fibril from primary localized cutaneous nodular amyloidosis associated with Sjögren's syndrome. Dermatology. 1994;189(2):125-8. [Medline].
Srivastava M. Primary cutaneous nodular amyloidosis in a patient with Sjögren's syndrome. J Drugs Dermatol. Mar 2006;5(3):279-80. [Medline].
Yoneyama K, Tochigi N, Oikawa A, Shinkai H, Utani A. Primary localized cutaneous nodular amyloidosis in a patient with Sjögren's syndrome: a review of the literature. J Dermatol. Feb 2005;32(2):120-3. [Medline].
Konishi A, Fukuoka M, Nishimura Y. Primary localized cutaneous amyloidosis with unusual clinical features in a patient with Sjögren's syndrome. J Dermatol. Jun 2007;34(6):394-6. [Medline].
Meijer JM, Schonland SO, Palladini G, et al. Sjögren's syndrome and localized nodular cutaneous amyloidosis: coincidence or a distinct clinical entity?. Arthritis Rheum. Jul 2008;58(7):1992-9. [Medline].
Summers EM, Kendrick CG. Primary localized cutaneous nodular amyloidosis and CREST syndrome: a case report and review of the literature. Cutis. Jul 2008;82(1):55-9. [Medline].
Hicks BC, Weber PJ, Hashimoto K, Ito K, Koreman DM. Primary cutaneous amyloidosis of the auricular concha. J Am Acad Dermatol. Jan 1988;18(1 Pt 1):19-25. [Medline].
Mun KS, Pailoor J, Reddy SC. Primary localised deep cutaneous amyloidosis of the eyelid. Malays J Pathol. Dec 2005;27(2):113-5. [Medline].
Northcutt AD, Vanover MJ. Nodular cutaneous amyloidosis involving the vulva. Case report and literature review. Arch Dermatol. Apr 1985;121(4):518-21. [Medline].
Moon AO, Calamia KT, Walsh JS. Nodular amyloidosis: review and long-term follow-up of 16 cases. Arch Dermatol. Sep 2003;139(9):1157-9. [Medline].
Lien MH, Railan D, Nelson BR. The efficacy of dermabrasion in the treatment of nodular amyloidosis. J Am Acad Dermatol. Feb 1997;36(2 Pt 2):315-6. [Medline].
Hamzavi I, Lui H. Excess tissue friability during CO2 laser vaporization of nodular amyloidosis. Dermatol Surg. Sep 1999;25(9):726-8. [Medline].
Truhan AP, Garden JM, Roenigk HH Jr. Nodular primary localized cutaneous amyloidosis: immunohistochemical evaluation and treatment with the carbon dioxide laser. J Am Acad Dermatol. Jun 1986;14(6):1058-62. [Medline].
Alster TS, Manaloto RM. Nodular amyloidosis treated with a pulsed dye laser. Dermatol Surg. Feb 1999;25(2):133-5. [Medline].
Bozikov K, Janezic T. Excision and split thickness skin grafting in the treatment of nodular primary localized cutaneous amyloidosis. Eur J Dermatol. May-Jun 2006;16(3):315-6. [Medline].
Breathnach SM. Amyloid and amyloidosis. J Am Acad Dermatol. Jan 1988;18(1 Pt 1):1-16. [Medline].
Carroll CB, Collison DW, Rodman OG Jr. Atrophic outpouchings of abdominal skin. Nodular cutaneous amyloidosis. Arch Dermatol. Feb 1996;132(2):223-4, 226-7. [Medline].
Grunewald K, Sepp N, Weyrer K, et al. Gene rearrangement studies in the diagnosis of primary systemic and nodular primary localized cutaneous amyloidosis. J Invest Dermatol. Oct 1991;97(4):693-6. [Medline].
Helm TN, Danziger J, Helm KF. Bilateral plantar amyloidosis: a unique presentation of localized cutaneous amyloidosis. Cutis. Mar 1997;59(3):142-4. [Medline].
Horiguchi Y, Takahashi C, Imamura S. A case of nodular cutaneous amyloidosis. Amyloid production by infiltrating plasma cells. Am J Dermatopathol. Feb 1993;15(1):59-63. [Medline].
Huilgol SC, Ramnarain N, Carrington P, Leigh IM, Black MM. Cytokeratins in primary cutaneous amyloidosis. Australas J Dermatol. May 1998;39(2):81-5. [Medline].
Kakani RS, Goldstein AE, Meisher I, Hoffman C. Nodular amyloidosis: case report and literature review. J Cutan Med Surg. Mar-Apr 2001;5(2):101-4. [Medline].
Masuda C, Hayashi M, Kameda Y, Mohri S, Nakajima H, Nagai R. Protein AL origin in amyloidosis cutis nodularis atrophicans. J Dermatol. Aug 1986;13(4):280-4. [Medline].
Masuda C, Mohri S, Nakajima H. Histopathological and immunohistochemical study of amyloidosis cutis nodularis atrophicans--comparison with systemic amyloidosis. Br J Dermatol. Jul 1988;119(1):33-43. [Medline].
Touart DM, Sau P. Cutaneous deposition diseases. Part I. J Am Acad Dermatol. Aug 1998;39(2 Pt 1):149-71; quiz 172-4. [Medline].
Trau H, Shpiro D, Schewach-Millet M, Pras M, Prelli F, Frangione B. Nodular cutaneous amyloidosis. Am J Dermatopathol. Aug 1991;13(4):414-7. [Medline].
Vestey JP, Tidman MJ, Mclaren KM. Primary nodular cutaneous amyloidosis--long-term follow-up and treatment. Clin Exp Dermatol. Mar 1994;19(2):159-62. [Medline].
Further Reading
Keywords
nodular localized cutaneous amyloidosis, localized cutaneous amyloidosis, NLCA, LCA, amyloidosis cutis nodularis atrophicans, tumefactive amyloid, systemic amyloidosis, Sjogren syndrome, Sjögren syndrome
Overview: Amyloidosis, Nodular Localized Cutaneous