Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSPDENADAI, RafaelRAPOSO-AMARAL, Cassio E.BERTOLA, DeboraKIM, ChongALONSO, NivaldoHART, ThomasHAN, SangwooSTELINI, Rafael F.BUZZO, Celso L.RAPOSO-AMARAL, Cesar A.HART, P. Suzanne2013-07-302013-07-302012AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.158A, n.4, p.732-742, 20121552-4825https://observatorio.fm.usp.br/handle/OPI/340Juvenile 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. (C) 2012 Wiley Periodicals, Inc.engrestrictedAccessanthrax toxin receptor 2 proteinhyaline fibromatosis syndromeinfantile systemic hyalinosisjuvenile hyaline fibromatosisof-the-literaturecapillary morphogenesis protein-2follow-upjuvenilegeneinfantarticleCopyright WILEY-BLACKWELL10.1002/ajmg.a.35228Genetics & Heredity