Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis Overlap Associated With a Novel Mutation in Capillary Morphogenesis Protein-2 Gene
Antaya RJ, Cajaiba MM, Madri J, Lopez MA, Ramirez MC, Martignetti JA, Reyes-Múgica M. Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis Overlap Associated With a Novel Mutation in Capillary Morphogenesis Protein-2 Gene. American Journal Of Dermatopathology 2007, 29: 99-103. PMID: 17284973, DOI: 10.1097/01.dad.0000245636.39098.e5.Peer-Reviewed Original ResearchMeSH KeywordsAllelesConnective Tissue DiseasesDNAFemaleFibromaGerm-Line MutationHumansHyalinInfantMembrane ProteinsReceptors, PeptideSkinSkin DiseasesConceptsJuvenile hyaline fibromatosisInfantile systemic hyalinosisHyaline fibromatosisCapillary morphogenesis gene 2Painful skin lesionsImpairment of movementNovel mutationsVisceral involvementClinical pictureClinicopathologic findingsRare conditionSkin lesionsSystemic hyalinosisSubcutaneous tissueProtein 2 geneSevere disabilityGermline mutationsFibromatosisDiseaseAllelic diseasesGene 2Unclear natureMutationsHyalinosisLesions