familial juvenile systemic granulomatosis
MIM.186580
FJSG, arthrocutaneouveal granulomatosis, ACUG, JABS syndrome, Blau syndrome
Dominant disease associating
Synopsis
systemic granulomatosis
- cutaneous granulomatosis
- noncaseating granulomatous skin infiltration
- ichtyosis
- granulomatous synovitis
- cranial basis granulomatosis
- cranial neuropathies
- corticosteroid-responsive hearing loss
nongranulomatous uveitis
boutonniere deformities
flexion contractures of fingers and toes
cysts over wrist and ankle joints
intermittent generalized erythematous papular rash
Etiology
germline mutations of the CARD15 (also involved in susceptibility to Crohn disease)
See also