Xanthomas – Localized Cholesterol and Fat Accumulations

Xanthomas, also known as xanthomas, are localized fat deposits that appear in various parts of the body, most commonly on the skin. These lesions typically present as red, yellow, or yellow-brown papules, plaques, or nodules. There are several clinical forms of xanthomas, such as eruptive, tuberous, tendinous, planar, and verruciform xanthomas.

The appearance of skin symptoms usually begins in adulthood, but certain inherited lipid metabolism disorders can be detected in childhood. The formation of xanthomas is due to the body’s inflammatory response, which occurs as a reaction to deposited fats. The changes observed on the skin can not only cause aesthetic problems but may also indicate underlying health issues, making proper diagnosis and treatment important.

The aim of this article is to provide a detailed overview of the types of xanthomas, their symptoms, the diagnostic process, and possible treatment options. Understanding xanthomas not only helps in maintaining skin health but also plays a crucial role in recognizing lipid metabolism disorders.

Types of Xanthomas and Their Characteristics

Xanthomas can appear in various forms, each with its own specific characteristics. For instance, eruptive xanthomas are bright-colored papules measuring 1-5 mm that suddenly appear on the extensor surfaces of the limbs and buttocks. These skin lesions are often associated with skin injuries, where new lesions may develop. Eruptive xanthomas are generally associated with elevated triglyceride levels.

Tuberous xanthomas are orange or red nodules that appear around the joints, most commonly above the elbows and knees. These skin lesions can occur individually or in groups and can reach sizes of up to 3 cm. This type of xanthoma is usually associated with conditions that have elevated cholesterol levels.

Tendinous xanthomas typically present as firm, skin-colored nodules located above the Achilles tendon. These nodules are attached to the tendons and move during motion, making diagnosis challenging. This type of xanthoma is often related to hereditary conditions, such as cerebrotendinous xanthomatosis or sitosterolemia.

Planar xanthomas are soft, yellow plaques that most commonly develop on the eyelids, neck, and trunk. Lesions that occur on the eyelids are called xanthelasmas, which can occur with both elevated and normal blood lipid levels. Finally, verruciform xanthomas are red, flat, or wart-like lesions that most frequently occur in the oral cavity or around the genital area and are often associated with chronic inflammatory skin diseases.

The Diagnosis and Examination Process

Establishing a diagnosis of xanthomas is a complex process that involves a thorough review of the medical history, physical examination, and laboratory tests if necessary. A skin biopsy can also help confirm the clinical suspicion. Determining the type and cause of xanthomas requires consideration of the patient’s family history, as inherited lipid metabolism disorders are often involved.

Measuring blood lipid levels is essential during diagnosis, particularly for all xanthoma patients except those with the verruciform form. If the results indicate elevated blood lipid levels, it is important to investigate the underlying causes. Certain medications, such as estrogens, prednisone, or oral retinoids, can contribute to increased blood lipid levels, so these must also be considered during diagnosis.

Furthermore, for patients with planar xanthomas, it is particularly important to rule out hematological diseases, as these skin symptoms may predict the development of blood-forming organ problems. Therefore, skin lesions are not only important from an aesthetic perspective but can also serve as an early warning sign for underlying diseases.

Challenges of Differential Diagnosis

The difficulty in diagnosing xanthomas lies in the fact that they often resemble other skin diseases. For example, xanthelasma, the most common type of xanthoma, must be distinguished from other skin lesions occurring in the eye area, such as sebaceous hyperplasia, xanthogranuloma, syringoma, or nodular basal cell carcinoma.

In the case of eruptive xanthomas, the possibility of generalized granuloma annulare and disseminated xanthoma must also be considered, as these can also present with similar lesions. The differentiation between tendinous and tuberous xanthomas is complicated by their resemblance to other nodules appearing around joints or tendons.

Verruciform xanthomas found in the oral cavity and genital mucosa can also be easily confused with other lesions, such as oral papilloma or verrucous carcinoma. A thorough understanding of the underlying diseases is crucial to facilitate differential diagnosis.

Treatment Options

The treatment of xanthomas is generally not mandatory, and in many cases, patients do not experience any symptoms. However, for aesthetic reasons, many seek treatment. The primary step is to normalize blood lipid levels, which often leads to improvement in skin symptoms.

If xanthomas do not present with laboratory abnormalities, they are traditionally treated with surgical excision, which can yield good cosmetic results. Additionally, other effective treatment options exist, such as cryotherapy, trichloroacetic acid chemical peels, and laser treatment, which can also help alleviate symptoms and remove skin lesions.

Choosing the appropriate treatment method is always individual and depends on the patient’s condition and the type of xanthoma. Consulting with a specialist helps determine the most suitable solution, taking into account the patient’s needs and skin health.