Bilateral periocular xanthomatous plaques and spontaneous purpura as a sign of amyloidosis
Author: Maria Mas Castells
Base Hospital / Institution: Sahlgrenska Universitetssjukhus
ePoster presentation
Abstract ID: 25-245
Purpose
1. To present a case of a classical yet easily overlooked presentation of amyloidosis with periocular xanthomatous plaques and spontaneous purpura. 2. To highligt the role of the ophthalmologist in the diagnosis of amiloydosis as cutaneous / eyelid manifestations might the the early presentation of the disease. 3. To stress the importance of a prompt referral to the hematologist to rule out organ involvement and multiple myeloma.
Methods
A 54-year-old otherwise healthy woman presented with a 5 year history of bilateral upper and lower eyelid yellow papules, previously diagnosed as xanthelasma and treated with blepharoplasty elsewhere. The patient was referred to the university eye clinic due to the progression of the yellow plaques and the development of recurrent eyelid bruising. No history of trauma, blood dyscrasias or antiplatelet/anticoagulant medication was documented. Ophthalmic examination revealed extensive non-tender bilateral upper and lower eyelid xanthomatous plaques with petechia and purpura. The rest of the eye and orbital exam was normal, including visual function. No similar lesions were found on the rest of the body skin and no macroglossia was noted. The patient was assymptomatic.
Results
The high suspicion of amyloidosis promted an eyelid biopsy. Red Congo and immunohistochemical staining of the gelatinous yellow tissue confirmed the diagnosis. The patient was referred to the hematologist for further investigation which found evidence of systemic disease (further information on eposter).
Conclusion
Dermatological manifestations such as bilateral periocular yellow eyelid plaques and spontaeous purpura, are common in patients with systemic amyloidosis and can be the first and only evidence of the disease. These manifestations reflect the deposit of the misfolded amyloid protein on the skin and on the superficial vasculature, causing vessel fragility and spontaneous purpura. High index of suspicion when encountering with these eyelid lesions is of paramount importance to allow for early diagnosis and potentially prevent or limit end organ damage, as well as to rule out multiple myeloma.
Additional Authors
| First name | Last name | Base Hospital / Institution |
|---|---|---|
| Åse | Silverdal | Salhgrenska Universitetssjukhus |
