School of Medical Sciences, Marília University, Marília, SP, Brazil.
Am J Med Genet A. 2012 Apr;158A(4):732-42. doi: 10.1002/ajmg.a.35228. Epub 2012 Mar 1.
Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2) located on chromosome 4q21. Characteristically, these conditions present with overlapping clinical features, such as nodules and/or pearly papules, gingival hyperplasia, flexion contractures of the joints, and osteolytic bone defects. The present report describes a pair of sibs and three other JHF/ISH patients whose diagnoses were based on typical clinical manifestations and confirmed by histopathologic analyses and/or molecular analysis. A comparison of ISH and JHF, additional thoughts about new terminology (hyaline fibromatosis syndrome) and a modified grading system are also included.
幼年性透明纤维瘤病（JHF）和婴儿系统性透明变性病（ISH）是罕见的、常染色体隐性结缔组织疾病，由位于 4q21 染色体上编码炭疽毒素受体 2 蛋白（ANTXR2）的基因突变引起。这些疾病的特征性表现为重叠的临床特征，如结节和/或珍珠样丘疹、牙龈增生、关节弯曲挛缩和溶骨性骨缺损。本报告描述了一对同胞和另外 3 例 JHF/ISH 患者，其诊断基于典型的临床表现，并通过组织病理学分析和/或分子分析得到证实。本文还比较了 ISH 和 JHF，对新术语（透明纤维瘤病综合征）的额外思考以及改良的分级系统也进行了讨论。
