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.

Risk, III.

Surgical correction of hypertelorbitism in patients younger than 8 years leads to a significantly higher rate of bony interorbital distance relapse compared with patients who undergo surgery at an older age. Neither the initial degree of severity nor the type of surgical technique correlates with relapse. The authors therefore recommend that in the absence of urgent factors necessitating early intervention, hypertelorbitism correction should be performed after 8 years of age.

No abstract

Therapeutic, IV.