Familial granulomatous synovitis, uveitis, and cranial neuropathies

Douglas A. Jabs, J. Lawrence Houk, Wilma B. Bias, Frank C. Arnett

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128 Scopus citations


A family is presented that had what is believed to be a previously undescribed syndrome of granulomatous synovitis, bilateral recurrent uveitis, and cranial neuropathies. Affected members included the proband, his brother, father, and probably the deceased paternal grandmother. Disease onset was in childhood. Each had symmetric, boggy polysynovitis of the hands and wrists, resulting in nearly Identical boutonniere deformities. Hand radiography in the proband and his brother revealed no erosions or joint destruction despite more than 20 years of disease. Synovectomy specimens in the proband and his brother showed granulomatous inflammation with giant cells. Recurrent, nongranulomatous, acute iridocyclitis with visual impairment afflicted the proband, brother, and father. Apparently corticosteroid-responsive bilateral neurosensory hearing loss occurred in the proband, and a transient sixth cranial nerve palsy in his brother. All members of the family were antinuclear antibody-, rheumatoid factor-, and HLA-B27-negative. Serum angiotensinconverting enzyme levels were within normal limits in all family members. The inheritance pattern of this syndrome is most consistent with an autosomal dominant mode.

Original languageEnglish (US)
Pages (from-to)801-804
Number of pages4
JournalThe American journal of medicine
Issue number5
StatePublished - May 1985

ASJC Scopus subject areas

  • General Medicine


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