Overview.
Disseminated xanthoma with urolithiasis is a combination of disseminated xanthoma of the skin and mucous membranes accompanied by urolithiasis, a specific combination of the two. It is rare and occurs mainly in young children and adolescents. The male to female ratio is 2:1 and the mode of inheritance is unknown.
Etiology
The disease is a normolipidemic xanthomatosis with occasional secondary hyperlipidemia (elevated cholesterol levels). Uremia occurs in about 50% of cases.
Symptoms
1. Disseminated cutaneous papular xanthoma
The skin lesions are hemispherical papules and nodules, dark yellow or brownish-yellow, mainly distributed symmetrically on both eyelids, both sides of the neck and flexor side of the joints, and the skin lesions may be fused into warts and become red or brown.
2. Mucosal xanthoma
The lesions are frequent, almost every case can occur, mainly in the oral cavity, the posterior wall of the pharynx, nasopharynx and larynx, also can be seen in the bronchus or even fine bronchial tubes, xanthomas can even occur in the conjunctiva and tonsils. There are also cerebral xanthomas.
3. Uremia
Uremia is present in about 50% of patients, partly due to the response to antidiuretic hormone. Urine specific gravity is sometimes relatively high, which is uncommon.
Lipoprotein metabolism is normal, and triglyceride and cholesterol levels tend to normalize but may be more often elevated during the course of the disease. Bone marrow, brain, respiratory tract, heart, kidneys, liver, pancreas, lymph nodes, uterus, and muscles may be involved.
Examination
Histopathologically, the lesions are initially characterized by a single form of histiocytosis, which then progresses to inflammatory granulomas with a large infiltrate of leukocytes, eosinophils, lymphocytes, and macrophages, and finally to the formation of large and small xanthomatous cells, Touton-type giant cells, which are rich in lipids and lipoproteins.
Diagnosis
Diagnosis is made on the basis of clinical manifestations, lesion characteristics, and histopathologic features.
Treatment
Depending on the symptoms, cutaneous mucosal nodules can be removed by surgical excision, electrosurgery or liquid nitrogen, and systemic treatment with glucocorticoids can be applied. Uremia should be treated with concomitant antidiuretic hormone or antimycotic therapy to stimulate antidiuretic hormone (ADH) secretion.