Rahvar Maral, Teng Joyce, Kim Jinah
*Department of Pathology, Loma Linda University, Loma Linda, CA; and Departments of †Dermatology, and ‡Pathology, Stanford University, Stanford, CA.
Am J Dermatopathol. 2016 May;38(5):e60-3. doi: 10.1097/DAD.0000000000000467.
Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disorder characterized by hyalinizing fibrosis of the skin and internal organs. Clinical features include multiple papular skin lesions, gingival hyperplasia, joint contractures, and osteolytic bone lesions. The systemic variant of JHF, known as infantile systemic hyalinosis (ISH), has an early onset and poor prognosis. Histological examination of cutaneous lesions shows bland-appearing fibroblasts within amorphous eosinophilic hyaline depositions. JHF and infantile systemic hyalinosis form a clinical spectrum with higher mortality that is typically observed in systemic cases. Here, the authors present a case of systemic hyalinosis with a heterozygous mutation in CMG2 that resulted in improved survival.
青少年透明纤维瘤病（JHF）是一种罕见的常染色体隐性疾病，其特征为皮肤和内脏器官的透明样纤维化。临床特征包括多发性丘疹性皮肤病变、牙龈增生、关节挛缩和溶骨性骨病变。JHF的全身型，即婴儿全身性透明变性（ISH），起病早且预后差。皮肤病变的组织学检查显示，在无定形嗜酸性透明样沉积物中有外观平淡的成纤维细胞。JHF和婴儿全身性透明变性构成了一个临床谱系，全身型病例通常具有更高的死亡率。在此，作者报告了一例全身性透明变性病例，该病例中CMG2存在杂合突变，从而使生存期延长。
