• Journal of Genetic Medicine
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• 제19권1호
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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.

• 대한정형외과학회지
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• 제56권2호
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• pp.157-163
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• 2021

목적: 아킬레스건의 황색종은 드물게 발생하며 증상이 심할 경우 수술적 치료가 필요한 경우가 있다. 전 절제술 후 재건술은 높은 수술의 숙련도를 요하며 다양한 합병증에 대한 우려가 있다. 본 연구에서는 양측 아킬레스건에 발생한 거대 황색종에 대해 자가 아킬레스건을 보존하는 쐐기형 절제술 후 추시 결과를 분석하고자 하였다. 대상 및 방법: 2010년 7월부터 2018년 5월까지 양측 아킬레스건에 발생한 황색종 환자 5명에 대해 자가 아킬레스건을 보존하는 쐐기형 절제술을 시행하였다. 평균 나이는 49세(범위, 40-55세)였고 추시 기간은 평균 21.4개월(범위, 12-31개월), 남자는 3명, 여자는 2명이었다. 수술 후 발생한 합병증을 기록하였으며 족관절 운동 범위, American Orthopaedic Foot & Ankle Society(AOFAS) ankle/hindfoot score, 치료 만족도 시각적 척도(visual analogue scale for overall satisfaction), single-limb heel raise 가능 여부, 그리고 직장으로의 복귀 시간을 측정하여 수술 후 임상적인 평가를 시행하였다. 결과: 1명에서 열개창(wound dehiscence)이 발생하였으며 추가적인 수술적 치료 없이 호전되었다. 마지막 추시에서 모든 환자들의 족관절의 운동 범위는 정상이었으며 AOFAS ankle/hindfoot score는 평균 91점(범위, 85-96점)이었고 치료 만족도 시각적 척도는 8-10점의 분포를 보였다. 직장으로의 복귀는 평균 27.6일(범위, 17-58일)이었으며 모든 환자는 single-limb heel raise가 가능하였다. 결론: 아킬레스건에 황색종이 발생하였을 경우 자가 아킬레스건을 보존하며 시행하는 쐐기형 절제술은 좋은 수술적 치료가 될 수 있을 것으로 판단된다.

• 대한골관절종양학회지
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• 제6권1호
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• pp.41-46
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• 2000

다발성 황색종을 보이는 가족성 고콜레스테롤혈증 환자 1례를 경험하고 수술 및 내과적 치료를 병행하였으며, 계속 추적관찰 중이기에 문헌고찰과 함께 이에 보고하고자 한다. 전신 22 곳에 다발성 황색종을 보이는 26세 남자의 가족성 고콜레스테롤혈증 환자에서 17군데의 황색종을 수술적으로 절제하고, 고콜레스테롤혈증에 대하여는 내과적 약물치료를 병행하였으며, 술 후 13개월 이상 추적 관찰하였다. 환자는 정상적인 수술창의 치유과정을 보였고, 술 후 Simvastatin 약물치료를 병행하고 있으며, 1년 후 최종추시시 종괴의 재발은 없었으나 고콜레스테롤혈증의 치료는 미세한 변화만을 보여 계속 내과적 추적관찰 중이다. 가족성 고콜레스테롤혈증은 저밀도지단백 콜레스테롤의 증가, 건 황색종 및 관상동맥 질환을 특징으로 하며, 상염색체 우성으로 유전되는 지질대사의 장애를 보이는 질환이다. 황색종은 보통 10대에 처음 발견되고 조기 진단에 중요한 단서가 될 수 있으며, 특히 종골건 황색종은 가족성 고콜레스테롤혈증의 첫 번째 임상징후로 나타날 수 있다. 고콜레스테롤혈증은 관상동맥경화증의 위험이 높아 조기 진단과 치료가 중요하며, 이에 정형외과 의사도 황색종의 수술적 제거외에 이러한 숨어 있는 질환을 진단할 수 있어야 하겠다.

• 대한두개안면성형외과학회지
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• 제19권4호
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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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• 제40권4호
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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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• 제42권6호
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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.