Eruptive xanthomas in a patient with severe hypertriglyceridemia: A case report

Abstract

BACKGROUND

Xanthomatosis, a metabolic disorder causing yellow growths (xanthomas), poses challenges in lipid metabolism. This case study introduces the first documented instance within China's Yi population, emphasizing the need to explore dietary habits and treatment strategies tailored to this specific community.

CASE SUMMARY

Xanthomatosis is a metabolic disorder where lipid metabolism goes awry, resulting in the development of yellowish growths called xanthomas. A male patient, 47 years of age, from China's Yi population, who is obese, visited our dermatology clinic complaining of widespread, non-painful rashes that have been present for two weeks. The patient works as a chef and has a diet that frequently includes oily and greasy foods. This case represents the initial documentation of xanthomatosis within the Yi population in China, offering a theoretical foundation for understanding dietary patterns and treatment options specific to the Yi community.

CONCLUSION

The first report of xanthomatosis in the Yi population in China lays a theoretical foundation for understanding Yi dietary patterns and treatment.

Key Words: Eruptive xanthomas, Hypertriglyceridemia, Yi ethnicity, Dermatology, Chef, Case report

Core Tip: Xanthomatosis, a metabolic disorder causing yellow growths (xanthomas), poses challenges in lipid metabolism. This case study introduces the first documented instance within China's Yi population, emphasizing the need to explore dietary habits and treatment strategies tailored to this specific community.

INTRODUCTION

Xanthomatosis is a metabolic disorder where lipid metabolism goes awry, resulting in the development of yellowish growths called xanthomas.

CASE PRESENTATION

Chief complaints

A 47-year-old male patient of Yi in China with obesity presented to our dermatology clinic with generalized asymptomatic rashes for 2 wk.

History of present illness

The lesions had appeared on his arms two weeks earlier and had spread to his trunk, buttocks and legs. He had not taken medications around the time of rash onset. He worked as a chef and had a diet that was often oily and greasy. There were no similar cases of illness in his family members.

History of past illness

He had not taken medications around the time of rash onset.

Personal and family history

He worked as a chef and had a diet that was often oily and greasy. There were no similar cases of illness in his family members.

Physical examination

On physical examination, crops of firm reddish-yellow papules (diameter 1-3 mm) distributed on the patient’s trunk, extensor surfaces of the extremities and buttocks, suggestive of eruptive xanthomas (Figure 1).

Figure 1 Scattered reddish-yellow papules (diameter 1–3 mm) mainly on the extensor sides) of the patient. A: On the abdomen; B: Lumbosacral region; C: Left upper limb; D: Both lower limbs.

Laboratory examinations

Laboratory examinations showed elevated levels of total cholesterol 11.58 mmol/L (reference range < 5.17 mmol/L), triglycerides 26.74 mmol/L (< 2.3 mmol/L), low-density lipoprotein cholesterol 4.61 mmol/L (< 3.36 mmol/L), alanine aminotransferase 47 U/L (5-40 U/L), gamma-glutamyl transferase 197 U/L (11-50 U/L) and glucose 12.35 mmol/L (3.89-6.1 mmol/L) (Table 1). Histopathological examination showed the epidermis appears mostly normal, while the dermis shows infiltration of foam cells and inflammatory cells that were consistent with an eruptive xanthomas (Figure 2).

Figure 2 Histopathological examination showed the epidermis appears mostly normal, while the dermis shows infiltration of foam cells and inflammatory cells. A: Scale bars:100 μm; B: Scale bars: 50 μm (H&E).

Table 1 Laboratory results and body mass index details.

Test	Result	Reference
Total cholesterol	11.58 mmol/L	< 5.17 mmol/L
Triglycerides	26.74 mmol/L	< 2.3 mmol/L
Low-density lipoprotein cholesterol	4.61 mmol/L	< 3.36 mmol/L
Alanine aminotransferase	47 U/L	5-40 U/L
Gamma-glutamyl transferase	197 U/L	11-50 U/L
Glucose	12.35 mmol/L	3.89-6.1 mmol/L
Height	165 cm
Weight	87 kg
BMI	32.0 kg/m2	18.5-24 kg/m2

BMI: Body mass index.

Imaging examinations

No special notes.

FINAL DIAGNOSIS

Eruptive xanthomas.

TREATMENT

Lifestyle modifications are advised for EX patients, including a low-sugar, low-fat diet, appropriate exercise, weight control, and medication primarily focused on managing the underlying condition to restore blood lipid and blood sugar levels to normal.

OUTCOME AND FOLLOW-UP

The lesions resolved without any recurrence at 1-month follow-up.

DISCUSSION

The Liangshan Yi Autonomous Prefecture is situated in the southern part of Sichuan, China, and it boasts the highest population of the Yi ethnic group in the nation[1]. The patient was a male of Yi ethnicity. He was advised to follow a low-fat, low-sugar diet, exercise regularly, maintain a healthy weight. Due to elevated blood sugar and lipid levels, further consultation with an endocrinologist was recommended, but the patient refused medication, the lesions resolved without any recurrence at 1-month follow-up.

The occurrence of xanthoma is often caused by elevated blood lipids, which are deposited locally in tissues and engulfed by tissue cells, resulting in yellow or orange nodules, plaques, or patches as the main clinical manifestations of this skin disease. Based on the morphology of the rash, the site of onset, and the number and size of the skin lesions, it can be classified into seven types: Xanthelasma, nodular xanthomas, tendon xanthomas, flat xanthomas, eruptive xanthomas, palmar xanthomas, and disseminated xanthoma disease. Eruptive xanthomas (EX) are characterized by the sudden appearance of multiple reddish-yellow papules with a diameter of less than 5 mm on the buttocks and extensor surfaces of the limbs. During the acute phase, the base of the skin lesions may have erythema, and a Kobner's Phenomenon may also be observed. The rash can resolve spontaneously or leave behind pigmented scars several weeks later. The occurrence of EX is usually associated with severe hypertriglyceridemia (mostly Fredrickson type I and type V hyperlipoproteinemia), latent diabetes, obesity, or excessive alcohol consumption[2]. EX can also occur secondary to renal insufficiency, hypothyroidism, pancreatitis, gammopathy, cholestatic liver disease, and as a side effect of medications such as isotretinoin, acitretin, glucocorticoids, and estrogens[3].

The patient in this case is overweight, with a diet that is typically high in oily and greasy foods. The course of the illness is short, with a rapid onset of skin rash. Blood lipid and blood sugar levels are significantly elevated. Combining the presentation of skin lesions and pathological biopsy, a diagnosis of EX can be confirmed. The patient declined medication treatment and was advised to follow a low-sugar, low-fat diet, exercise regularly, and control their weight. After approximately one month, most of the skin lesions had subsided. The diagnosis of EX is not difficult, with the key being to determine the presence of any associated underlying damage. When suspecting this condition, a detailed inquiry should be made regarding dietary preferences, smoking and alcohol habits, as well as blood lipid and biochemical tests. If necessary, a pathological biopsy should be performed to confirm the diagnosis. In clinical practice, this condition needs to be differentiated from the following diseases: (1) Nodular xanthoma, which predominantly affects the joints of the limbs in an extended position. It presents as yellowish nodules of varying sizes, with a firm texture that can merge into plaques. It may be accompanied by atherosclerosis and abnormalities in cholesterol and triglyceride levels; (2) Xanthoma disseminatum, which primarily affects infants and young children. It manifests as single or multiple yellow-brown papules or nodules, with a tendency for self-resolution and generally not affecting overall health; (3) Disseminated xanthoma, characterized by yellow or brown papules and nodules. It commonly affects the flexural areas of the body, such as the groin and elbow creases, and may involve ocular or mucosal lesions. Blood lipid levels are normal, but 40% of patients also experience diabetes insipidus; (4) Plane xanthoma, presenting as dome-shaped papules and nodules with a waxy appearance. They often have a central umbilication and can be scattered or clustered, typically without fusion. Squeezing the top may release a cheeselike substance; and (5) Generalized eruptive histiocytoma, featuring 3-10 mm reddish-brown papules that occur in batches. They are scattered in a symmetrical distribution on the trunk and proximal limbs, tend to self-resolve, but can recur intermittently, lasting from months to years.

CONCLUSION

For patients with EX, lipid profile, blood sugar, biochemical markers, immunoglobulin levels, and thyroid function tests should be conducted to rule out systemic diseases such as liver, kidney, and thyroid disorders. The progression of EX can increase the risk of metabolic disorders, cardiovascular diseases, and malignant lymphomas. Literature reports have shown a significantly increased incidence of complications such as acute pancreatitis when triglyceride levels exceed 20 mmol/L. In this case, the patient has not yet experienced abdominal pain or other discomfort, but the possibility of complications should still be considered. Lifestyle modifications are advised for EX patients, including a low-sugar, low-fat diet, appropriate exercise, weight control, and medication primarily focused on managing the underlying condition to restore blood lipid and blood sugar levels to normal.

Currently, statins are the primary treatment for hyperlipidemia. In cases of severe or complex disease, hyperlipidemia can be managed by combining statins with other lipid-regulating agents like niacin, bile acid sequestrants, fibrates, and ezetimibe[4]. In general, skin lesions will naturally fade after a few weeks, but laser treatment or surgical excision may be necessary for more stubborn lesions.