title: Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.
abstract: 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.
authors.affiliation: School of Medical Sciences, Marília University, Marília, SP, Brazil.
authors.forename: Rafael
authors.initials: R
authors.lastname: Denadai
authors.forename: Cassio E
authors.initials: CE
authors.lastname: Raposo-Amaral
authors.forename: Débora
authors.initials: D
authors.lastname: Bertola
authors.forename: Chong
authors.initials: C
authors.lastname: Kim
authors.forename: Nivaldo
authors.initials: N
authors.lastname: Alonso
authors.forename: Thomas
authors.initials: T
authors.lastname: Hart
authors.forename: Sangwoo
authors.initials: S
authors.lastname: Han
authors.forename: Rafael F
authors.initials: RF
authors.lastname: Stelini
authors.forename: Celso L
authors.initials: CL
authors.lastname: Buzzo
authors.forename: Cesar A
authors.initials: CA
authors.lastname: Raposo-Amaral
authors.forename: P Suzanne
authors.initials: PS
authors.lastname: Hart
mesh_terms: D002648:Child; D002675:Child, Preschool; D003240:Connective Tissue Diseases / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D005260:Female; D005351:Fibromatosis, Gingival / Q000235:genetics / Q000473:pathology; D005885:Gingival Hyperplasia / Q000235:genetics / Q000473:pathology; D006801:Humans; D057770:Hyaline Fibromatosis Syndrome / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D018000:Receptors, Peptide; D055815:Young Adult
chemical_list: C447150:ANTXR2 protein, human; D008565:Membrane Proteins; D018000:Receptors, Peptide