• Journal of Genetic Medicine
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• v.19 no.1
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• pp.22-26
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• 2022

Cerebrotendinous xanthomatosis (CTX) is a rare genetic disease caused by a deficiency of enzymes for the synthesis of bile acid, resulting in the accumulation of cholestanol with reduced chenodeoxycholic acid (CDCA) production and causing various symptoms such as chronic diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas in adolescence and young adulthood, and progressive neurologic dysfunction in adulthood. Because oral CDCA replacement therapy can effectively prevent disease progression, early diagnosis and treatment are critical in CTX. This study reports the case of CTX in a 10-year-old male who presented with Achilles tendon xanthoma and mild intellectual disability. Biochemical testing showed normal cholesterol and sitosterol levels but elevated cholestanol levels. Genetic testing showed compound heterozygous variants of CYP27A1, c.379C>T (p.Arg127Trp), and c.1214G>A (p.Arg405Gln), which confirmed the diagnosis of CTX. The patient had neither cataracts nor other focal neurologic deficits and showed no abnormalities on brain imaging. The patient received oral CDCA replacement therapy without any adverse effects; thereafter, the cholestanol level decreased and no disease progression was noted. The diagnostic possibility of CTX should be considered in patients with tendon xanthoma and normolipidemic conditions to prevent neurological deterioration.

• Journal of the Korean Orthopaedic Association
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• v.56 no.2
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• pp.157-163
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• 2021

Purpose: Xanthomatosis of the Achilles tendons is rare. In some patients, however, the lesions in the Achilles tendon need to be removed, which may be painful and disfiguring. While studies of successful surgical outcomes for the total resection and reconstruction of the Achilles tendon have been reported, reconstruction surgery has a technical challenge, and extended surgical exposures are required. This study analyzed five cases of bilateral xanthoma of the Achilles tendon, which was treated surgically using a wedge-shaped tendon-sparing approach to eliminate the need for tendon reconstruction. Materials and Methods: From July 2010 to May 2018, five patients with xanthomatosis in both Achilles tendons underwent wedge-shaped tendon preserving surgery. The average age was 49 years (range, 40-55 years), and the follow-up period was 21.4 months (range, 12-31 months). The patients consisted of three males and two females. Complications related to surgery were recorded. The outcome measures included the range of motion of the ankle joint, American Orthopaedic Foot and ankle Society (AOFAS) ankle/hindfoot score, and visual analogue scale (VAS) for overall satisfaction at the last follow-up. The availability of a single-limb heel raise and returning time to work were also measured. Results: Wound dehiscence that did not require secondary surgery was noted in one patient. At the last follow-up, the range of motion of the ankle joint was normal in all patients. The mean AOFAS ankle/hindfoot score was 91 (range, 85-96) and the VAS for the overall satisfaction ranged from 8 to 10. The average time between surgery and return to work was 27.6 days (range, 17-58 days) and all patients could perform a single-limb heel raise test. Conclusion: The tendon-sparing technique, which can preserve the anatomical functioning of the Achilles tendon, could be an excellent surgical approach because it has very promising functional and cosmetic surgical outcomes in patients with Achilles tendon xanthomatosis.

• The Journal of the Korean bone and joint tumor society
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• v.6 no.1
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• pp.41-46
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• 2000

We experienced the case of familiar hypercholesterolemia with multiple xanthomas which was treated by combined surgical and medical therapy. He was 26-year-old male patient of familiar hypercholesterolemia with multiple xanthomas in 22 sites on whole body, and was treated by 17 surgical excisions of the xanthomas and by medical therapy of the hypercholesterolemia. There was a normal healing process of the surgical wounds. Continual postoperative medical therapy of the hypercholesterolemia was done. There was no recurrence of the symptoms during more than 13 months of follow-up. But the serum level of the cholesterol was not lowered significantly, so we are treating him with drug therapy. Familial hypercholesterolemia is caused by a specific disorder of lipid metabolism, and is characterized by increased LDL cholesterol, tendon xanthomas, coronary disease associated with autosomal dominant transmission. Xanthomas usually appear in the second decade of life with familiar hypercholesterolemia which may have high risk for premature coronary atherosclerosis, which might be prevented with early diagnosis and medical treatment. So, orthopedic surgeons do not only excise the xanthomatosis surgically but also can diagnose the underlying hypercholesterolemia.

• Archives of Craniofacial Surgery
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• v.19 no.4
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• pp.296-299
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• 2018

Xanthelasma palpebrarum is the most common cutaneous xanthoma found on the medial side of the eyelid. The typical lesion is usually a flat and yellowish plaque on the skin. However, we report on a unique case of intramuscular xanthoma found during blepharoplasty for the correction of ptosis. A 53-year-old male patient visited our department with a complaint of a ptotic eyelid. He was concerned about the cosmetic appearance and the uncomfortable feeling while opening his eyes, and wanted these problems to be solved. A yellowish plaque of about $0.3{\times}0.3cm$ in size was found in the orbicularis oculi muscle during the surgery. The lesion was excised and xanthelasma was confirmed with biopsy. We have found this specific case of xanthelasma palpebrarum in the only muscle. Therefore, a careful approach to clinical and histologic examination and imaging is required for patients with these lesions.

• Archives of Plastic Surgery
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• v.40 no.4
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• pp.380-386
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• 2013

Background Xanthelasma palpebrarum (XP) is a benign disorder manifesting as yellowish cholesterol-laden plaques on the eyelids. This paper presents the outcomes in patients with XP who have undergone surgical excision as the main modality of treatment. Methods A retrospective review of patients who received surgery for xanthelasma palpebrarum from March 2007 to March 2011 was conducted. Patients were classified into four grades according to the location and extent of the lesion, with grade I being the mildest and grade IV being the most diffuse. Simple excision was performed in grade I and II lesions, while local flaps and skin grafts were performed in the more advanced grades. Results Ninety-five cases from March 2007 to March 2011 were included in this study. 66 cases (70%), were treated by simple excision. Twenty-four cases (25%) and 5 cases (5%) were treated by simple excision in combination with or without local flaps and skin grafts. In approximately 1/4 of the patients, orbicularis oris muscle involvement was observed. 4 patients (4.2%) developed scar contracture postoperatively, which required a secondary procedure. Recurrence was reported in 3 patients (3.1%). Otherwise. There were no other reports of major complications or disfigurement. Conclusions We found that for lesions involving the deep dermis and/or muscle, surgical excision was the most appropriate therapeutic option.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.42 no.6
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• pp.383-387
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• 2016

Oral verruciform xanthoma (OVX) is an uncommon lesion that appears on the oral mucosa. The aim of this paper was to discuss the probable etiopathogenesis of OVX in the hard palate, reinforcing the importance of including this lesion in the differential diagnosis of verrucous lesions. A 43-year-old male smoker presented with a painless lesion with a verrucous surface and erythematous spots on the hard palate. Excisional biopsy revealed oral mucosa consisting of hyperkeratosis, acanthosis, and elongated rete pegs. Subjacent connective tissue showed numerous foam cells with clear cytoplasm and pyknotic nucleus, negative on periodic acid-Schiff staining. Immunohistochemical analysis revealed foam cells positive for anti-CD68 antibody, while anti-KI-67 antibody was restricted to the basal layer of the oral epithelium. A final diagnosis of OVX was established. The patient showed no signs of recurrence after seven months of follow-up. Physical trauma and smoking habits can be directly related to the etiology of verruciform xanthoma because the lesion is chronic and inflammatory with slow growth, and sites if high trauma are more often affected by such a lesion. The hard palate is the second most commonly affected site, and local trauma caused by smoking can be a cause of this type of lesion.