SKINIPEDIA - Skin Diseases & Conditions: Xanthelasma

Skin Diseases and Conditions: Normolipemic Papular Xanthoma paper by Atul Singla, MD

ABSTRACT

Xanthomas are a common presentation of disorders of lipid metabolism, usually associated with abnormalities of cholesterol metabolism. A 35-year-old woman presented to us with the lesions of xanthelasma on the upper eyelids and papular xanthomas on the rest of the body. Routine investigations and systemic examination were normal. The lipid profile was within normal range and serum protein electrophoresis showed normal pattern. Histopathology from a papular lesion showed foamy histiocytes with Touton giant cells. We present a case of normolipemic papular xanthoma with xanthelasma, a very rare occurrence.

Xanthomatosis is a widespread disorder in which localized infiltrates of the lipid-containing cells appear in the skin and visceral organs. They may or may not be associated with abnormal lipid metabolism [1]. Xanthelasma palpebrum is the most common cutaneous xanthoma. It occurs as bilaterally symmetrical yellow plaque most commonly on the upper eyelid near the inner canthus. This lesion may represent a localized cutaneous phenomenon or signify a systemic hyperlipidemia and be associated with elevation of low density lipoprotein (LDL) as in pure hypercholesterolemia (such as familial hypercholesterolemia, FH) or type-III hyperlipoproteinemia [2]. Papular xanthoma is a rare normolipemic non-Langerhans-cell histiocytosis affecting both children and adults. Clinically, it is represented by monomorphic papular eruption seen in the 13 to 57-year age group and has a biphasic occurrence in the young adolescence and in middle age. It is predominately located on the trunk, extremities, and rarely on the head. Histologically, it is characterized by a regular epidermis and a dense distribution of the xanthomitized macrophages interspersed by numerous Touton giant cells [3]. Papular xanthoma may be associated with a systemic disorder or may be a cutaneous manifestation of an underlying malignancy. We describe a female patient with xanthelasma and normolipemic papular xanthoma unassociated with systemic disease.

DISCUSSION

We present a rare case of normolipemic papular xanthoma with xanthelasma in a young female. Xanthomas are lesions characterized by accumulation of lipid-laden macrophages. They can be a reflection of altered lipid metabolism or a result of local cell dysfunction. Xanthelasma palpebrum is the most common of the xanthomas and presents as asymptomatic, usually bilaterally symmetric soft, velvety, yellow, flat, polygonal papules around the eyelids. Xanthelasmas are most common in the upper eyelid near the inner canthus.

Usually, the lesions evolve for several months and enlarge slowly from small papules. Xanthelasma may be associated with hyperlipidemia in which any type of primary hyperlipoproteinemia can be present. Some secondary hyperlipoproteinemias, such as cholestasis, may also be associated with xanthelasma [4]. Papular xanthomas are normolipemic, nonconfluent, eruptive xanthomas located on the face, trunk, and mucous membranes with no internal involvement. Histologically, they are characterized by foamy cells and Touton giant cells. Electron microscopy shows macrophages packed with free lipid vacuoles and lacking specific markers [5]. Papular xanthoma has been reported to be associated with systemic disorders and may be a cutaneous sign of internal malignancy. Diffuse normolipemic xanthomatosis have normal lipid levels but are often associated with serious hepatic disease or hematological dyscrasia, especially multiple myeloma [6]. Hu et al. reported two cases of unusual normolipemic cutaneous xanthomatosis [7].

One patient presented with widespread normolipemic papular xanthomas in which histiocytes containing Langerhans granules were found. Vail et al. reported a case of chronic myelomonocytic leukemia with cutaneous xanthomas [8]. Darwin et al. reported a case of generalized papular xanthoma in a patient with Sezary syndrome [9]. The xanthomas were composed of foamy histiocytes that were shown by immunoperoxidase staining to be of the monocyte/macrophage lineage. Goerdt et al. described a case of normolipemic papular xanthomatosis in a patient with long-standing erythrodermic atopic dermatitis [10].

Papular xanthoma has also been reported to be associated with angiokeratoma of Fordyce [11]. Some normolipemic xanthomatosis are found to be associated with either a systemic disease or malignancy. Our case showed xanthelasma with papular xanthomatosis but without any lipid disorder,associated systemic disease, or malignancy. Normolipemic eruptive cutaneous xanthomatosis has been reported previously also but its occurrence is very rare [1, 6]. In our case two types of xanthomas were seen in the same patient. Although papular xanthomas have been reported to involute spontaneously [1], in our case they were persistent for 6 years at the time when the patient first presented to us. This case is being reported because of its rare occurrence.

References

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