Muniz Mariela Leão, Lobo Alice Zoghbi Coelho, Machado Maria Cecília da Matta Rivitti, Valente Neusa Yuriko Sakai, Kim Chong Ae, Lourenço Sílvia Vanessa, Nico Marcello Menta Simonsen
Department of Dermatology, Hospital das Clínicas, University of São Paulo School of Medicine, São Paulo, Brazil.
Pediatr Dermatol. 2006 Sep-Oct;23(5):458-64. doi: 10.1111/j.1525-1470.2006.00283.x.
Juvenile hyaline fibromatosis and infantile systemic hyalinosis are rare autosomal recessive disorders of infancy and early childhood that are histologically characterized by deposition of hyaline material. The main clinical features are papulo-nodular skin lesions, gingival hypertrophy, joint contractures, and bone abnormalities. However, infantile systemic hyalinosis has a more severe clinical presentation, including visceral involvement and premature death. Very recently, genetic studies identified mutations in the same gene in patients with both conditions, strongly suggesting that they belong to the same disease spectrum. We report two new nonrelated patients who met the criteria for the diagnosis of juvenile hyaline fibromatosis/infantile systemic hyalinosis. Clinical, histopathologic, immunohistochemical, and ultrastructural findings are presented, as well as an extensive review of the literature. Recent information regarding pathogenesis and treatment is discussed.
青少年透明纤维瘤病和婴儿系统性透明变性是罕见的常染色体隐性遗传性疾病，好发于婴儿期和儿童早期，其组织学特征为透明物质沉积。主要临床特征包括丘疹结节性皮肤病变、牙龈增生、关节挛缩和骨骼异常。然而，婴儿系统性透明变性临床表现更为严重，包括内脏受累和过早死亡。最近，基因研究发现这两种疾病患者的同一基因发生了突变，强烈提示它们属于同一疾病谱。我们报告了两名新的非相关患者，他们符合青少年透明纤维瘤病/婴儿系统性透明变性的诊断标准。本文展示了临床、组织病理学、免疫组织化学和超微结构检查结果，并对相关文献进行了广泛回顾。同时讨论了有关发病机制和治疗的最新信息。
