Keser G, Karabulut B, Oksel F, Calli C, Ustün E E, Akalin T, Koçanaoğullari H, Gümüdiş G, Doğanavşargil E
Department of Rheumatology, Ege University, Izmir, Turkey.
Clin Rheumatol. 1999;18(3):248-52. doi: 10.1007/s100670050094.
In this paper, we describe two siblings with Juvenile Hyaline Fibromatosis (JHF) who were diagnosed at the age of 34 and 29 years respectively. JHF is a very congenital disease, mainly diagnosed in the first few years of life, with less than 40 published cases in literature. All the main clinical features of this syndrome, which may be summarised as multiple subcutaneous tumours, marked gingival hypertrophy, flexion contractures and osteolytic lesions were present in both of these cases. Clinical, radiological and histological differential diagnosis of JHF were made. Recent information about histopathology, treatment and prognosis of JHF was also reviewed.
在本文中，我们描述了两名患有青少年透明纤维瘤病（JHF）的兄弟姐妹，他们分别在34岁和29岁时被诊断出患病。JHF是一种非常罕见的先天性疾病，主要在生命的最初几年被诊断出来，文献中报道的病例不到40例。这两名患者均出现了该综合征的所有主要临床特征，可概括为多发性皮下肿瘤、明显的牙龈肥大、屈曲挛缩和溶骨性病变。我们对JHF进行了临床、放射学和组织学鉴别诊断。我们还回顾了关于JHF组织病理学、治疗和预后的最新信息。
