Approach Considerations
The diagnosis of blepharochalasis syndrome is made through clinical history and physical examination. [6]
Laboratory Studies
Laboratory studies do not currently play a role in the diagnosis of blepharochalasis syndrome. [6]
Imaging Studies
Ultrasonography, CT scanning, or MRI may be performed to exclude differential diagnoses including dysthyroid orbitopathy, idiopathic orbital inflammation, or other processes that could result in eyelid edema. Imaging may be especially warranted in individuals with atypical clinical presentations. [2]
Histologic Findings
Eyelid biopsy of a patient with blepharochalasis may reveal perivascular inflammatory cells, including lymphocytes, plasma cells, mast cells, histiocytes, and eosinophils in the dermis (that stain positive for matrix metalloproteinases 3 and 9), and are associated with a marked decrease in elastic fibers. [6] In contrast, eyelid biopsy of affected skin may reveal immunoglobulin A (IgA) deposits in the dermoepidermal junction with loss of collagen elastic fibers in the dermis. [6] (Please see the Pathophysiology sub-section in the Overview section for additional information).
Staging
1) Earlier active phase: non-pitting edema of the eyelid is most prominent
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Hypertrophic variant: fuller appearance of the orbit secondary to orbital fat prolapse as a result of orbital septum weakness
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Atrophic variant: hollow appearing globes secondary to fat atrophy
2) Late phase: eyelids are characterized by increased laxity and thinning
3) Quiescent disease: no acute flare-ups for 2 or more years [21]
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Bilateral lacrimal gland prolapse in the quiescent stage of blepharochalasis syndrome. Courtesy of Kathleen Duerksen, MD.
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Upper and lower eyelid edema in blepharochalasis syndrome. Notice the left pseudoepicanthal fold. Courtesy of Kathleen Duerksen, MD.
