Familial dysbetalipoproteinaemia presenting with cauliflower xanthoma
A 43-year-old man was presented to outpatient endocrine clinic of Tabriz University of Medical Sciences, Tabriz, Iran, by his sister for evaluation of skin lesions. He had multiple lesions on shoulders and back, lateral and medial part of dorsal surface of the foot, medial and lateral malleus of both feet, and dorsal and palmar surface of both hands. Siblings of the patient have been followed up in that clinic for clinically diagnosed type-III dysbetalipoproteinaemia. This diagnosis was based on characteristic palmar, eruptive, tuberous and trauma site xanthomas with typical high levels of both total cholesterol and triglycerides in the plasma. Both parents had normal serum lipid levels. History of coronary artery or other atherosclerotic disorders were negative in index case and siblings. There were not any other complaint, and as a greengrocer, he had an active lifestyle. He had a pathology report of skin lesion biopsy that was performed by a dermatologist few months ago, with presence of lipid laden macrophages consistent with diagnosis of xanthoma. Fasting serum lipid levels reported as: Total cholesterol = 507 mg/dl, Triglycerides = 470 mg/dl and High Density Lipoprotein (HDL) cholesterol = 41 mg/dl. He had normal fasting blood sugar, and normal thyroid, renal and liver function tests. Complete blood counts and urine analysis was also normal. Physical examinations revealed numerous xanthomas resembling cauliflower on both knees [], unusual eruptive, tuberous xanthomas same as previous lesions, on the lateral malleus of both feet [].\nThere were lots of smaller xanthomas on the right shoulder [], and cauliflower like xanthomas on the extensor side of the left upper extremity, especially on the elbow []. Based on available information, the patient diagnosed as familial dysbetalipoproteinaemia (FDL) and the unique lesions on the lower limb called “Cauliflower xanthoma”. Although siblings of this case had the same disorder, they didn’t develop such lesions.\nBy searching in the medical data bases, we cannot find a previous such a lesion. Therefore, we decided to present this case without revealing patient's name, after taking his consent.\nConsidering the fact that the treatment with high dose Statin was effective in correction of lipid abnormality and regression of skin lesions in his three siblings, we wanted to try the treatment procedure in this patient but he refused any intervention.