Ronconi G, Visonà A, Ronconi M, Montaguti A, Meli S
Pediatr Med Chir. 1986 Sep-Oct;8(5):727-33.
The authors report a typical case of JHF. The complete review of the literature shows that no more than 20 cases have been so far described. The clinical, pathological and electron microscopic features are stressed and the main clinical and pathological differential diagnoses are considered. The disease, formerly thought to be due to an abnormal composition of collagen fibers, seems to be nowadays, thanks to Japanese authors, related to an error in glycosaminoglycans metabolism.
作者报告了一例典型的青少年透明纤维瘤病（JHF）病例。对文献的全面回顾显示，迄今为止描述的病例不超过20例。文中强调了其临床、病理和电子显微镜特征，并考虑了主要的临床和病理鉴别诊断。该疾病以前被认为是由于胶原纤维组成异常所致，如今，多亏了日本学者的研究，似乎与糖胺聚糖代谢错误有关。
