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.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.