Antaya Richard J, Cajaiba Mariana M, Madri Joseph, Lopez Maria A, Ramirez Maria Celeste M, Martignetti John A, Reyes-Múgica Miguel
Department of Dermatology, Yale University, New Haven, CT 06520-8023, USA.
Am J Dermatopathol. 2007 Feb;29(1):99-103. doi: 10.1097/01.dad.0000245636.39098.e5.
Juvenile hyaline fibromatosis (JHF) is a rare condition of childhood characterized by deposition of an amorphous substance of unclear nature in the dermis and subcutaneous tissues. The clinical picture includes painful skin lesions, leading to impairment of movements and severe disabilities. The allelic disease, infantile systemic hyalinosis (ISH), clinically overlaps with JHF but shows a worse picture with visceral involvement. Recently, germline mutations in the capillary morphogenesis gene-2 (CMG2) were found to be responsible for both diseases. Here, we present a case with classical clinicopathologic findings of JHF and features of ISH, and we describe a novel mutation in CMG2.
青少年透明纤维瘤病（JHF）是一种罕见的儿童疾病，其特征是在真皮和皮下组织中沉积一种性质不明的无定形物质。临床表现包括疼痛性皮肤病变，导致运动障碍和严重残疾。等位基因疾病，婴儿全身性透明变性（ISH），在临床上与JHF重叠，但在内脏受累时表现出更严重的症状。最近，发现毛细血管形态发生基因2（CMG2）中的种系突变是这两种疾病的病因。在此，我们报告一例具有JHF典型临床病理表现和ISH特征的病例，并描述了CMG2中的一种新突变。
