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JAMA Dermatology Clinicopathological Challenge
January 04, 2017

Progressive Purpura in a Long-term Care Patient

Author Affiliations
  • 1Department of Dermatology, Galway University Hospital, Galway, Ireland
JAMA Dermatol. Published online January 4, 2017. doi:10.1001/jamadermatol.2016.4987
Case

A man in his 80s presented with a 1-year history of purpura, ecchymoses, anorexia, and weight loss. His medical history included alcohol abuse and cognitive impairment. Purpura and ecchymoses, initially periorbital, progressed over the previous 12 months. Elder abuse was excluded. Examination demonstrated waxy yellow papules and plaques with purpura in the periocular, neck, axillary, trunk, and inguinal regions (Figure, A). Investigations revealed anemia, abnormal liver function test results, and renal impairment with moderate proteinuria. The patient’s serum protein electrophoresis (SPEP) and immunofixation urine protein electrophoresis test results were normal. Radiological studies were unremarkable. Subsequently, a 4-mm punch biopsy specimen was obtained (Figure, B-D).

Figure.
A, Waxy yellow discoloration of the skin with papules and purpura in the periorbital region. B, Punch biopsy specimen (hematoxylin-eosin, original magnification × 4). C, Punch biopsy specimen stained with Congo red (original magnification × 10). D, Punch biopsy specimen under polarized microscopy (original magnification × 10).

A, Waxy yellow discoloration of the skin with papules and purpura in the periorbital region. B, Punch biopsy specimen (hematoxylin-eosin, original magnification × 4). C, Punch biopsy specimen stained with Congo red (original magnification × 10). D, Punch biopsy specimen under polarized microscopy (original magnification × 10).

Box Section Ref ID

What Is Your Diagnosis?

  1. Myeloma

  2. Metastatic disease

  3. Amyloidosis

  4. Leukemia cutis

Discussion
Diagnosis

C. Amyloidosis

Microscopic Findings and Clinical Course

Hematoxylin-eosin staining showed upper dermal amorphous eosinophilic deposits (Figure, B), Congo red staining results were positive (Figure, C). Polarizing light microscopy demonstrated pale apple-green birefringence (Figure, D). The patient was diagnosed with primary systemic (AL) amyloidosis, with biopsy proven cutaneous amyloidosis and likely renal, hepatic, and cerebral involvement. The patient’s family decided against further investigation or treatment and the patient subsequently died from pneumonia.

Amyloidosis is not a single disease but a general term describing several diseases sharing the feature of abnormal extracellular tissue deposition of amyloid, a fibrillar proteinaceous material. Amyloid is classified as systemic or organ limited. Systemic amyloidosis comprises AL and secondary amyloidosis. Primary amyloidosis is associated with plasma cell dyscrasias or may be idiopathic, as in this patient. Secondary amyloidosis complicates chronic inflammatory disease.

Presentation is varied, reflecting the wide spectrum of organ involvement. Systemic symptoms, such as fatigue and weight loss, are common.1 Mucocutaneous lesions occur in 30% to 40%,2 manifesting as waxy thickening, ecchymoses, and subcutaneous nodules or plaques. Amyloid purpura, characteristically periorbital, appears in a minority.3

Diagnosis of AL amyloid requires demonstration of amyloid fibrils. On hematoxylin-eosin staining, amyloid appears as a pink, amorphous, waxy substance. Amyloid fibrils are confirmed by Congo red staining, In the evaluation for plasma cell dyscrasias, a negative SPEP result does not entirely exclude a monoclonal gammopathy and should be followed by immunofixation electrophoresis, with approximately 10-fold enhanced sensitivity when compared with SPEP.4

Differential diagnoses include other forms of amyloidosis, multiple myeloma, cutaneous metastases, and papular mucinosis. The prognosis is poor, with mean survival of 14 months from diagnosis.

Conclusions

The diagnosis of AL amyloidosis was delayed owing to nonspecific symptoms and unawareness of the significance of persistent and progressive purpura. Skin lesions may be the sole manifestation of systemic amyloidosis; therefore, prompt recognition and assessment for systemic involvement is important because prognosis is affected by early recognition of the disease.5

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Article Information

Corresponding Author: Jennifer M. E. Boggs, MB, BCh, BAO, Department of Dermatology, Galway University Hospital, Newcastle Road, Galway, Ireland (jmeboggs1@gmail.com).

Published Online: January 4, 2017. doi:10.1001/jamadermatol.2016.4987

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank the patient’s family for granting permission to publish this information.

Self-assessment Credit: This article is eligible for journal-based self-assessment (1 credit) for Maintenance of Certification (MOC) from the American Board of Dermatology (ABD). After completion of an activity, please log on to the ABD website at www.abderm.org to register your credits. This may be done after each exercise or after accumulating many credits.
References
1.
Kyle  RA, Gertz  MA.  Primary systemic amyloidosis: clinical and laboratory features in 474 cases. Semin Hematol. 1995;32(1):45-59.
PubMed
2.
Bolognia  JL, Jorizzo  JL, Schaffer  JV. Dermatology. 3rd ed. Elsevier Ltd; Amsterdam, Netherlands. 2012.
3.
Eder  L, Bitterman  H.  Image in clinical medicine: amyloid purpura. N Engl J Med. 2007;356(23):2406.
PubMedArticle
4.
Willrich  MA, Katzmann  JA.  Laboratory testing requirements for diagnosis and follow-up of multiple myeloma and related plasma cell dyscrasias. Clin Chem Lab Med. 2016;54(6):907-919.
PubMed
5.
Silverstein  SR.  Primary systemic amyloidosis and the dermatologist: where classic skin lesions may provide the clue for early diagnosis. Dermatol Online J. 2005; 11(1):5.
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