A skin lesion on the upper eyelid of a 46-year-old woman is biopsied. Light microscopy of the tissue specimen is shown in the image below.
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This lesion is most likely to be associated with which of the following conditions?
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Xanthelasma is a cutaneous lesion commonly found on the eyelid that contains lipid-laden macrophages (foam cells). These papules are typically yellow due to the location of the foam cells in the superficial dermis. Xanthelasma and other forms of xanthoma (tuberous, eruptive, tendinous) are classically associated with primary or secondary hyperlipidemia. Chronic cholestatic processes including obstructive biliary lesions and primary biliary cholangitis result in hypercholesterolemia due to leakage of bile back into the circulation, leading to the formation of xanthelasmas. Correction of underlying lipid defects can lead to slow resolution of these lesions.
(Choice A) Ankylosing spondylitis is an HLA-B27-associated spondyloarthropathy that affects primarily young males and causes debilitating pain and deformity of the spine and hips.
(Choice B) Hemochromatosis ("bronze diabetes") can cause generalized darkening of the skin due to hemosiderin deposition as well as cutaneous stigmata associated with chronic liver disease (eg, palmar erythema, gynecomastia, spider telangiectasias).
(Choice C) Graves' disease (the most common cause of hyperthyroidism) can present with pretibial myxedema and exophthalmos due to glycosaminoglycan accumulation. However, glycosaminoglycan accumulation occurs within the retroorbital space (not over the eyelids). In addition, hypothyroidism (not hyperthyroidism) is a common cause of hyperlipidemia.
(Choice D) Peptic ulcer disease may occur in multiple endocrine neoplasia 1.
(Choice E) Autosomal dominant polycystic kidney disease causes mild persistent proteinuria that can result in dyslipidemia. However, this is a less common cause of xanthelasma than biliary cirrhosis.
Educational objective:
A yellowish eyelid papule or plaque containing lipid-laden macrophages is most likely xanthelasma. Xanthelasma may occur in association with primary or secondary hyperlipidemia. Cholestatic conditions such as primary biliary cholangitis are a potential cause of hypercholesterolemia leading to xanthelasma.