Amyloidosis cutis dyschromica

Orphanet J Rare Dis. 2012 Dec 12:7:95. doi: 10.1186/1750-1172-7-95.

Abstract

Background: Amyloidosis cutis dyschromica is a rarely documented variant of cutaneous amyloidosis. To date, only 26 cases have been reported.

Objective: The purpose of this study was to improve the clinical and histopathological data for this variant of amyloidosis and to highlight the immunohistochemical features of the disease. The published cases were also reviewed.

Methods: We performed a retrospective review of patients with amyloidosis cutis dyschromica in a single centre. The clinical, histopathological and immunohistochemical features were documented and analysed.

Observations: We described 10 cases of amyloidosis cutis dyschromica. Six of them were female. Five patients were from the same family, and the other 5 were sporadic. The distinguishing features of the clinical presentation included generalised mottled hyper- and hypopigmented macules, which were asymptomatic or mild pruritic. The typical onset of the lesions occurred in childhood (n = 7) and occasionally after puberty (n = 3). No evidence of systemic amyloidosis deposition was observed in these cases of amyloidosis cutis dyschromica. Amyloid deposits were observed in the papillary dermis and were positive for the Congo red stain. An immunohistochemical study showed that the amyloid expresses cytokeratins CK34βE12 and CK5/6.

Conclusions: We described the largest series of amyloidosis cutis dyschromica to date and reviewed the published patients. This rare disease is featured by generalised mottled hyper- and hypopigmented lesions, and it is a rare variant of primary cutaneous amyloidosis without evidence of systemic amyloid deposition. Positive staining for the cytokeratins CK34βE12 and CK5/6 in amyloidosis cutis dyschromica suggests that the amyloid is derived from keratinocytes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Amyloidosis / diagnosis*
  • Amyloidosis / metabolism
  • Congo Red
  • Female
  • Humans
  • Immunoglobulin Light-chain Amyloidosis
  • Keratinocytes / metabolism
  • Keratinocytes / pathology
  • Keratins / metabolism
  • Male
  • Middle Aged
  • Pigmentation Disorders / diagnosis*
  • Pigmentation Disorders / metabolism
  • Retrospective Studies
  • Skin Diseases / diagnosis*
  • Skin Diseases / metabolism
  • Young Adult

Substances

  • Congo Red
  • Keratins