• Journal of Oral Medicine and Pain
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• v.23 no.3
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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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• v.40 no.5
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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.

• Korean Journal of Head & Neck Oncology
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• v.32 no.2
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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.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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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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• v.15 no.1
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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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• v.12 no.1
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• pp.1-7
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• 2008

Purpose : To compare Multi Echo Data Image Combination (MEDIC) and fast SE T2-weighted images with fat saturation (T2FS) to suggest more accurate evaluation of the histologic components of soft-tissue tumors. Materials and Methods : The experimental group included 25 histologic tissues (5 vascular, 4 neural, 4 fibrous, 4 hypercellular, 2 hemorrhagic necroses, 2 cystic, 2 lipoid, 1 myxoid stroma, and 1 thrombus) in 10 patients who had pathologically confirmed schwannoma (n = 3), hemangioma (n = 2), lipoma (n = 1), angiokeratoma (n = 1), synovial sarcoma (n = 1), liposarcoma (n = 1), and malignant fibrous histiocytoma (n = 1). The inhomogeneity values were measured using the standard deviation value (SD) divided by the mean value as SD presents an error amount similar to that of imaging heterogeneity. Results : The inhomogeneity values of 25 histologic components were lower on MEDIC than those on T2FS (p < .001). Conclusion : We conclude that MEDIC is more accurate than T2FS for evaluating the tissue components of soft-tissue tumors using digitalized data because MEDIC images have far lower inhomogeneity.