Adamicová K, Fetisovová Z, Mellová Y, Statelová D, Hutka Z
Ustav patologickej anatómie JLF UK a MFN, Martin.
Cesk Patol. 1998 Jul;34(3):99-104.
Juvenile hyaline fibromatosis is a rare autosomal recessive interstitial disease characterized by nodes and tumours of skin and soft tissues as well as by gingival hyperplasia. The authors described a case of 28-year-old male based on histopathological diagnosis. The patient was admitted to the hospital thrice in his life with the diagnosis of arthrogryphosis. Last time he presented with extensive secondary impetigo in extremities and pachydermia, polymalformation syndrome, multiple subcutaneous tumours, gingival hypertrophy, contractures, osteolytic lesions and positive family history. In histology, tumoriform lesions showed a structureless hyaline matrix often with chondroosseous metaplasia and calcium salts. More or less numerous cells in the matrix had a fibroblastoid appearance with eosinophilic cytoplasm, oval nuclei and frequently pericytoplasmic halo. Electron microscopy revealed dilated cisterns of rough endoplasmic reticulum and a hypertrophied Golgi apparatus. Particles representing calcium salts according to their density were rare. Immunohistochemistry of tumour cells showed vimentin, alpha-1-antichymotrypsin and alpha-1-antitrypsin. The findings concurred with the literature in which, nevertheless, the immunohistochemical picture were not mentioned.
青少年透明纤维瘤病是一种罕见的常染色体隐性间质疾病，其特征为皮肤和软组织出现结节及肿瘤，以及牙龈增生。作者基于组织病理学诊断描述了一例28岁男性病例。该患者一生中曾三次入院，诊断为关节挛缩症。上次就诊时，他出现了四肢广泛的继发性脓疱病和厚皮症、多畸形综合征、多发性皮下肿瘤、牙龈肥大、挛缩、溶骨性病变以及家族史阳性。组织学检查显示，肿瘤样病变呈现无结构的透明基质，常伴有软骨骨化生和钙盐沉积。基质中或多或少有许多细胞呈成纤维细胞样外观，胞质嗜酸性，核椭圆形，常有胞质周晕。电子显微镜显示粗面内质网池扩张和高尔基体肥大。根据密度代表钙盐的颗粒很少见。肿瘤细胞的免疫组织化学显示波形蛋白、α-1抗糜蛋白酶和α-1抗胰蛋白酶阳性。这些发现与文献报道一致，不过文献中未提及免疫组织化学表现。
