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Blau-Jabs Syndrome (Granulomatous Arthritis, Dermatitis and Uveitis)


History of Present Illness

A 7-year-old Caucasian boy complains of blurred visual acuity (VA), photophobia, and intermittent pain in both eyes (OU) over the past 12 months. Since age 3 he has had exacerbations of a papulonodular, tender, reddish-brown rash on his face ( Fig. 12.1 ) and trunk ( Fig. 12.2 ), as well as multiple firm subcutaneous nodules. The skin manifestations usually resolve with systemic corticosteroids.

Exam
OD OS
Visual acuity 20/80 20/40
IOP (mm Hg) 22 21
Sclera/conjunctiva Clear. No injection. Clear. No injection.
Cornea Band keratopathy (BK) with subepithelial corneal opacities inferiorly No BK but subepithelial corneal opacities (see Fig. 12.2A )
AC 2+ flare and 2+ cells 2+ flare and 2+ cells
Iris Pinpoint pupil with intermittent posterior synechiae for 360 degrees Intermittent posterior synechiae for 360 degrees
Lens 3+ Posterior subcapsular cataract (PSC) 1+ PSC
Vitreous cavity 2+ vitreous cells 2+ vitreous cells
Retina/optic nerve Fundus view blocked by pinpoint pupil and PSC Disseminated chorioretinal lesions obscured by PSC and vitritis (see Fig. 12.2B )

Fig. 12.1, Butterfly-shaped skin rash on the cheeks.

Fig. 12.2, (A) Subepithelial corneal deposits ( arrows ), posterior synechiae, left eye (OS). (B) Disseminated chorioretinal lesions ( arrows ) obscured by PSC and vitritis, OS.

Questions to Ask

  • Have you had a biopsy of your skin lesions, and what did it show?

  • Do you have any joint symptoms?

  • Are you having shortness of breath, and have you had a recent chest x-ray?

  • Have you had genetic testing to rule out sarcoidosis?

His skin biopsy revealed a granulomatous dermatitis with noncaseating granulomas. His joints swell symmetrically with moderate redness, warmth, and tenderness involving the interphalangeal joints of the hands and feet ( Fig. 12.3 ). He has no shortness of breath, and a recent chest x-ray was normal. Genetic testing revealed a CARD15/NOD2 mutation that excludes early-onset sarcoidosis as the cause of symptoms.

Fig. 12.3, Deformed hands secondary to chronic interphalangeal joint inflammation.

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