Malathi B G, Prabha C V, Padma S R, Muley P R, Jeyachandran Padmini
Department of Pathology, M.V.J. Medical College & R.H. Bangalore.
Indian J Pathol Microbiol. 2006 Apr;49(2):257-9.
Fibromatosis is a group of disorders characterized by infiltrating fibroblastic proliferation. Among them Juvenile hyaline fibromatosis (J.H.F) is a rare, progressive, crippling autosomal recessive disorder diagnosed based on the characteristic clinicopathological findings of generalized cutaneous nodular lesions, gingival hypertrophy, flexion contractures of large joints with osteolytic lesions, and proliferating fibroblasts set within a hyalinized stroma. This disorder commonly manifests in childhood with family history of consanguinity and in siblings. A case of seven year old boy born to consanguinous parents is reported who presented with multiple subcutaneous nodules and gingival hypertrophy. Histopathological examination revealed proliferating fibroblasts embedded in an abundant homogeneous eosinophilic hyalinized matrix. The matrix showed PAS stain positivity, supporting the pathogenesis of this disorder as an inborn error of glycosaminoglycans metabolism. The differential diagnosis is discussed and the literature reviewed.
纤维瘤病是一组以浸润性成纤维细胞增殖为特征的疾病。其中，青少年透明纤维瘤病（J.H.F）是一种罕见的、进行性的、致残性常染色体隐性疾病，其诊断基于全身性皮肤结节性病变、牙龈肥大、大关节屈曲挛缩伴溶骨性病变以及在透明化基质中增生的成纤维细胞等特征性临床病理表现。这种疾病通常在儿童期出现，有近亲结婚家族史且多见于同胞兄弟姐妹。本文报告了一例七岁男孩病例，其父母为近亲结婚，该男孩出现多个皮下结节和牙龈肥大。组织病理学检查显示增生的成纤维细胞包埋于丰富的均匀嗜酸性透明化基质中。该基质呈PAS染色阳性，支持这种疾病的发病机制是糖胺聚糖代谢的先天性缺陷。文中讨论了鉴别诊断并回顾了相关文献。
