• Journal of Oral Medicine and Pain
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• 제23권3호
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• pp.257-261
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• 1998

Angiokeratoma is a cutaneous vascular disorder that occurs at any sites as trunk,extremities, fingers and toes etc. Although solitary or multiple cutaneous lesions have been reported, oral lesions have been very care. A 72-year-old man who had an exophtic, essile mass with dark red, black colored which located on buccal mucosa, was treated with excisional biopsy. He had no specific systemic history except for the medication of allopurinol, for treatment of gout since 10 years. Final diagnosis was determined as angiokeratoma by evaluation of clinical and histopathological finding, and the lesion has not been recurred for two months by decrease of allopurinol. It has been emphasized that the relationship between oral mucosal disease and the complication of allopurinol. Allopurinol is widely used for gout treatment, which we will report a case on the allopurinol-associated angiokeratoma in the oral mucosa.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제40권5호
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• pp.240-245
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• 2014

Angiokeratoma is a benign cutaneous lesion of the capillaries, presenting as dilated vessels in the upper part of the dermis. Although this disorder is classified into various types and has been occasionally reported in the skin of the scrotum or extremities, the involvement of the oral cavity mucosa has been rarely reported. The present study reports a case of angiokeratoma circumscriptum in the buccal mucosa. The expression of vascular endothelial growth factor (VEGF) and both of its receptors (VEGFR-1 and VEGFR-2) was demonstrated by immunohistochemistry in the endothelial cells lining the dilated vessels. The expression of VEGFR-2 was higher than that of VEGFR-1 in the endothelial cells in the lesion, indicating an increased rate of endothelial cell proliferation within the lesion. Interestingly, some of the endothelial cells co-expressed VEGF and its two receptors. These results suggest that endothelial cells in the pathologically dilated vessels possess VEGF autocrine growth activity involved in vasculogenesis and maintenance in angiokeratoma lesions. To our knowledge, this is the second report published on isolated oral angiokeratoma confined to the buccal mucosa and the first case report on angiokeratoma circumscriptum involving the buccal mucosa.

• 대한두경부종양학회지
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• 제32권2호
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• pp.47-50
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• 2016

Angiokeratomas represent vascular lesions and are histologically characterized by superficial dermal vascular ectasia with overlying epidermal hyperkeratosis. Angiokeratoma circumscriptum is one of five types in the group of the angiokeratomas. The lesion is present from birth but may appear in childhood or adulthood. Angiokeratoma circumscriptum is typically hyperkeratotic papules or nodules situated unilaterally on the foot or distal aspect of the leg, but can occur elsewhere on the body. Isolated tongue involvement is very rare. We report a 12-year-old boy with angiokeratoma circumscriptum of the posterior dorsal tongue with a review of the literatures.

• 대한유전성대사질환학회지
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• 제14권1호
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• pp.37-41
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• 2014

Fabry disease is an X-linked disease caused by deficiency of the lysosomal enzyme alpha-galactosidase A. Affected males present anhydrosis, acroparesthesia and angiokeratoma, and subsequently cardiac, cerebral and renal complications are followed. Females and atypical variants show heterogeneous clinical symptoms. In 2001, two recombinant enzymes were approved for Fabry disease: agalsidase alpha and agalsidase beta. Since the introduction of enzyme replacement therapy (ERT), the number of long-term follow-up studies has been reported. Long-term ERT showed effectiveness on renal function in patients with chronic kidney disease, decrease or stabilization of left ventricular mass, and improvement of pain and quality of life. However, there were limited effects on cerebrovascular events and their mortality. Current literatures on the clinical effect of ERT have reported limited datain adult patients who have already advanced disease. Therefore, further study for pre-symptomatic patients and atypical variants is needed to verify the impact of ERT. This review summarized recent progresses in ERT and limitations of long-term effect of ERT in patients with Fabry disease.

• Journal of Genetic Medicine
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• 제15권1호
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• pp.28-33
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• 2018

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of ${\alpha}$-galactosidase A. Patients with classical FD present acroparesthesia, hypohidrosis, cornea verticillata, disseminated angiokeratoma, and microalbuminuria in childhood, and develop life-threatening renal, cardiac, and cerebrovascular complications typically after the fourth decade of life. To date, more than 700 mutations responsible for FD have been identified in the human GLA gene. Herein, we report a novel GLA mutation, c.1117_1141del25 (p.Gly373Profs*10), identified in an 11-year-old Korean boy with FD presenting early cardiac and neurologic manifestation and in other affected family members. The boy had acroparesthesia, hypohidrosis, cornea verticillata, and left ventricular hypertrophy. His mother and sister also had acroparesthesia. Two males on the mother's side had similar pain and died of unknown causes. The plasma ${\alpha}$-galactosidase A activity (4.1 nmol/hr/mg protein) of the patient was markedly lower than the mean value of the controls. The plasma level of globotriaosylsphingosine was elevated in the patient and all the carriers. We concluded the novel GLA mutation c.1117_1141del25 is a pathogenic mutation for FD, probably related to the early cardiac manifestation of FD.

• Investigative Magnetic Resonance Imaging
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• 제12권1호
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• pp.1-7
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• 2008

목적: 연조직종양의 조직 성분을 자기공명영상으로 평가하는데 MEDIC과 지방억제 T2 영상을 비교하여 더 나은 검사방법을 선택하고자 하였다. 대상 및 방법: 병리조직학적으로 진단된 연조직종양 10예 (신경집종 3예, 혈관종 2예, 지방종 1예, 혈관각화종 1예, 윤활막육종 1예, 지방육종 1예 그리고 악성섬유조직구종 1예)에서 25 조직 성분 (혈관 5예, 신경 4예, 섬유성 4예, 과세포성 4예, 출혈성괴사 2예, 낭성 2예, 지방성 2예, 점액버팀질 1예, 그리고 혈전 1예)을 선택하였다. 병리조직학적 조직 성분과 일치하는 동일 단면상을 가진 MEDIC과 지방억제 T2영상에 동일한 크기의 관심영역을 그려 불균질치를 얻었다. 불균질치는 영상의 불균질성을 나타내는 표준편차 값을 관심영역에서 얻은 신호강도 평균값으로 나눈 값으로 하였다. 결과: 25 조직 성분의 불균질치는 MEDIC 보다 지방억제 T2영상에서 높게 나타났다 (p < .001). 결론: MEDIC 영상은 불균질치가 현저히 낮으므로, 자기공명영상으로 연조직종양의 조직 성분을 평가하는데 지방억제 T2영상 보다 MEDIC 영상이 더 유용할 것으로 사료된다.