Oral lesions in fucosidosis.
Oral lesions in fucosidosis.
复制标题
岩藻糖苷沉积症的口腔病变。
DOI：
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发表时间：
1976
期刊：
影响因子：
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通讯作者：
D. Stern
中科院分区：
文献类型：
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作者：
D. E. Prindiville;D. Stern
在两个以前报告的岩藻糖苷沉积症的情况下，口腔病变进行了讨论。患者面容粗糙，智力严重低下，脊椎骨骺发育不良，α-L-岩藻糖苷酶缺乏，皮肤和口腔粘膜红色点状病变。牙龈活检标本显示，这些病变是相同的，在法布里病的身体弥漫性血管角化瘤报告，但有不同的位置。由于缓慢进展的精神发育迟滞和反复的上呼吸道感染，这种疾病的患者预后很差。治疗的目的似乎是通过腹膜穿刺术进行早期诊断。
The oral lesions in two previously reported cases of fucosidosis are discussed. The patients have coarse facies, severe mental retardation, spondyloepiphyseal dysplasia, deficiency of a-L-fucosidase, and red punctate lesions of the skin and oral mucosa. Gingival biopsy specimens showed that these lesions were identical to the angiokeratoma corporis diffusum reported in Fabry's disease, but had different locations. Because of the slowly progressing psychomotor retardation and recurrent upper respiratory tract infections that the prognosis for patients with this disease is poor. Treatment appears to be aimed at early diagnosis through amniocentesis.