Anadolu Rana Yavuzer, Oskay Tugba, Ozsoy Nesrin, Erdem Cengizhan
Department of Dermatology, Ankara University Medical School, Ankara, Turkey.
J Cutan Pathol. 2005 Mar;32(3):235-9. doi: 10.1111/j.0303-6987.2005.00275.x.
Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disease of the connective tissue. It is characterized by papulonodular skin lesions, soft tissue masses, gingival hypertrophy, osteolytic bone lesions and flexion contractures of the large joints. Here, we report a 14-year-old girl with characteristic clinical features of JHF with early fatal outcome. Dermatopathologic examination of the early lesions however constantly lacked the so-called hyalin changes in multiple skin biopsies. According to our experience; dermatopathological features of this entity is not often and always consists of classical hyalinisation. Only larger lesions with long duration should expected to be exhibiting those features. Therefore we suggest that; JHF may often present itself as Juvenile Non-Hyaline Fibromatosis: JHF without prominent hyaline changes. And thus this fact should not change the actual diagnosis and prognostic implications.
青少年透明纤维瘤病（JHF）是一种罕见的常染色体隐性结缔组织疾病。其特征为丘疹结节性皮肤病变、软组织肿块、牙龈增生、溶骨性骨病变以及大关节屈曲挛缩。在此，我们报告一名14岁女孩，具有JHF的典型临床特征，早期预后不良。然而，对早期病变的皮肤病理检查在多次皮肤活检中始终未发现所谓的透明样改变。根据我们的经验，该疾病的皮肤病理特征并不常见，且并非总是表现为典型的透明样变。只有病程较长的较大病变才可能出现这些特征。因此我们认为，JHF可能常表现为青少年非透明纤维瘤病：即无明显透明样改变的JHF。而这一事实不应改变实际的诊断及预后意义。
