Glover M T, Lake B D, Atherton D J
Department of Dermatology, Hospital for Sick Children, London, UK.
Pediatr Dermatol. 1992 Sep;9(3):255-8. doi: 10.1111/j.1525-1470.1992.tb00342.x.
Two unrelated infants had stiff skin and painful joint contractures in the first few months of life. Other features included gingival hyperplasia, small papules on the face and trunk, perianal nodules, and bloody diarrhea. Hyaline material was evident in the papillary dermis and gut mucosa in both patients. Ultrastructural examination revealed a distinctive fibrillogranular appearance. These infants have the same clinical, histologic, and ultrastructural features as four infants we reported previously with infantile systemic hyalinosis. One of the patients described here demonstrated some features that overlap with those of juvenile hyaline fibromatosis.
两名无血缘关系的婴儿在出生后的头几个月出现皮肤僵硬和疼痛性关节挛缩。其他特征包括牙龈增生、面部和躯干出现小丘疹、肛周结节以及血性腹泻。两名患者的乳头真皮层和肠道黏膜均可见透明物质。超微结构检查显示出独特的纤维颗粒外观。这些婴儿具有与我们之前报道的四名患有婴儿系统性透明变性的婴儿相同的临床、组织学和超微结构特征。此处描述的一名患者表现出一些与青少年透明纤维瘤病重叠的特征。
