Abstract
IMPORTANCE Primary systemic (amyloid light-chain [AL]) amyloidosis has a variety of cutaneous manifestations. In this case, we present a novel clinicopathological pattern of AL amyloidosis.
OBSERVATIONS A woman in her 50s with a history of AL amyloidosis manifesting as macroglossia and bilateral carpal tunnel syndrome presented with skin-colored to yellow cobblestoned plaques to the neck and bilateral antecubital fossa. Although clinical similar to pseudoxanthoma elasticum (PXE), the skin changes were found to be due to amyloid deposition primarily around the pilosebaceous unit but also within the papillary and reticular dermis. Previous reports of PXE-like plaques in AL amyloidosis have been reported as part of a very rare entity termed amyloid elastosis. However, our case demonstrates several important clinical and pathological differences from this entity. Most notably, there was no dermal elastic fiber involvement, limited cutaneous and systemic involvement, and a fairly indolent course with better response to treatment.
CONCLUSIONS AND RELEVANCE Identification of this atypical presentation of AL amyloidosis has important implications for early detection and rapid treatment. The lack of elastic fiber involvement establishes the uniqueness of this case, and further study may be required to determine if this histological finding has prognostic significance.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1091-1094 |
| Number of pages | 4 |
| Journal | JAMA Dermatology |
| Volume | 150 |
| Issue number | 10 |
| DOIs | |
| State | Published - Jan 1 2014 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Dermatology
Cite this
Primary systemic (amyloid light-chain) amyloidosis masquerading as pseudoxanthoma elasticum : Recognizing a novel clinicopathological pattern. / Wat, Heidi; Wu, Douglas C.; Mahmood, Muhammad N.; Brassard, Alain.
In: JAMA Dermatology, Vol. 150, No. 10, 01.01.2014, p. 1091-1094.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Primary systemic (amyloid light-chain) amyloidosis masquerading as pseudoxanthoma elasticum
T2 - Recognizing a novel clinicopathological pattern
AU - Wat, Heidi
AU - Wu, Douglas C.
AU - Mahmood, Muhammad N.
AU - Brassard, Alain
PY - 2014/1/1
Y1 - 2014/1/1
N2 - IMPORTANCE Primary systemic (amyloid light-chain [AL]) amyloidosis has a variety of cutaneous manifestations. In this case, we present a novel clinicopathological pattern of AL amyloidosis.OBSERVATIONS A woman in her 50s with a history of AL amyloidosis manifesting as macroglossia and bilateral carpal tunnel syndrome presented with skin-colored to yellow cobblestoned plaques to the neck and bilateral antecubital fossa. Although clinical similar to pseudoxanthoma elasticum (PXE), the skin changes were found to be due to amyloid deposition primarily around the pilosebaceous unit but also within the papillary and reticular dermis. Previous reports of PXE-like plaques in AL amyloidosis have been reported as part of a very rare entity termed amyloid elastosis. However, our case demonstrates several important clinical and pathological differences from this entity. Most notably, there was no dermal elastic fiber involvement, limited cutaneous and systemic involvement, and a fairly indolent course with better response to treatment.CONCLUSIONS AND RELEVANCE Identification of this atypical presentation of AL amyloidosis has important implications for early detection and rapid treatment. The lack of elastic fiber involvement establishes the uniqueness of this case, and further study may be required to determine if this histological finding has prognostic significance.
AB - IMPORTANCE Primary systemic (amyloid light-chain [AL]) amyloidosis has a variety of cutaneous manifestations. In this case, we present a novel clinicopathological pattern of AL amyloidosis.OBSERVATIONS A woman in her 50s with a history of AL amyloidosis manifesting as macroglossia and bilateral carpal tunnel syndrome presented with skin-colored to yellow cobblestoned plaques to the neck and bilateral antecubital fossa. Although clinical similar to pseudoxanthoma elasticum (PXE), the skin changes were found to be due to amyloid deposition primarily around the pilosebaceous unit but also within the papillary and reticular dermis. Previous reports of PXE-like plaques in AL amyloidosis have been reported as part of a very rare entity termed amyloid elastosis. However, our case demonstrates several important clinical and pathological differences from this entity. Most notably, there was no dermal elastic fiber involvement, limited cutaneous and systemic involvement, and a fairly indolent course with better response to treatment.CONCLUSIONS AND RELEVANCE Identification of this atypical presentation of AL amyloidosis has important implications for early detection and rapid treatment. The lack of elastic fiber involvement establishes the uniqueness of this case, and further study may be required to determine if this histological finding has prognostic significance.
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UR - http://www.scopus.com/inward/citedby.url?scp=84908053057&partnerID=8YFLogxK
U2 - 10.1001/jamadermatol.2014.61
DO - 10.1001/jamadermatol.2014.61
M3 - Article
C2 - 24898161
AN - SCOPUS:84908053057
VL - 150
SP - 1091
EP - 1094
JO - JAMA Dermatology
JF - JAMA Dermatology
SN - 2168-6068
IS - 10
ER -