Uveitis and white dot syndromes

Blau syndrome

2:228 visual cues3 clinical photosFree lesson

In this image

Each number marks an object in the image and the finding it stands for.

ChildBlau syndrome · Early childhood onset0:00
RashGranulomatous dermatitis0:06
JointsBoggy, symmetric polyarthritis / synovitis0:23
FingersCamptodactyly / PIP flexion contractures0:31
PanPanuveitis0:45
DominoAutosomal dominant · NOD2 gain-of-function1:06
FountainNOD2-driven innate immune activation1:22
Soil ballsNoncaseating granulomas1:33
ReviewEvery marker, in order1:41

Transcript

The narration, grouped by cue. Select a sentence to play from there.

Child0:00
The bowing young child is how we'll remember Blau syndrome, which begins in early childhood.
Rash0:06
Notice the red-brown papules on his skin. In Blau, granulomatous dermatitis is often the earliest manifestation. This photograph, from a case series of patients with Blau syndrome, shows a fine, micropapular rash on the trunk. Compare it with the papules drawn on his arms.
Joints0:23
His wrists and ankles are swollen on both sides, showing the boggy, symmetric polyarthritis, or synovitis.
Fingers0:31
Even his fingers stay bent. That's camptodactyly, or PIP flexion contractures. Another photograph from that series shows both findings together, with boggy swelling around the wrists and fingers held bent from camptodactyly.
Pan0:45
He's holding a pan, and his eyes are red and inflamed. Put the pan together with the inflamed eye, and you get panuveitis, which is typically bilateral and granulomatous. This photograph shows the front of the eye in a person with Blau syndrome, with signs of chronic inflammation. Compare it with the child's red, inflamed eyes in the drawing.
Domino1:06
A parent passes down a domino, just as Blau follows an autosomal dominant inheritance pattern. The number two on the domino is made of rope, tied in a knot. Knot two sounds like NOD2, for the NOD2 gain-of-function mutation.
Fountain1:22
That NOD2 connection continues in the overflowing fountain. Think of NOD2 driving innate immune activation, with systemic autoinflammation spilling over like the fountain.
Soil balls1:33
Beside it, the soil balls are solid throughout, without a cheesy center. Keep that image for noncaseating granulomas.
Review1:41
Now let's review what we've learned. Blau begins in early childhood. Its rash is granulomatous dermatitis, often the earliest manifestation, with boggy, symmetric polyarthritis or synovitis in the swollen joints. Bent fingers add camptodactyly, or PIP flexion contractures, and the pan adds typically bilateral, granulomatous panuveitis. Inheritance is autosomal dominant, with a NOD2 gain-of-function mutation. The fountain connects NOD2-driven innate immune activation with systemic autoinflammation, and the solid soil balls remind us of noncaseating granulomas.

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Clinical image credits

Openly licensed photographs used in this lesson, with what was changed.

Figure 1F, Kumrah R et al. (2022), “Blau syndrome: Lessons learned in a tertiary care centre at Chandigarh, North India,” Frontiers in Immunology 13:932919. © 2022 the authors.
CC BY 4.0 Article DOI
Cropped within panel F to the papular rash above the umbilicus; no other visual changes.
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Rectangular crop inside panel F (original pixels 1020,1720 to 1550,2066) showing the papular rash above the umbilicus; the panel letter is outside the crop. Decoded to PNG. No retouching, recoloring, enhancement, added arrows or upscaling.
Figure 1A, Kumrah R et al. (2022), “Blau syndrome: Lessons learned in a tertiary care centre at Chandigarh, North India,” Frontiers in Immunology 13:932919. © 2022 the authors.
CC BY 4.0 Article DOI
Cropped within panel A to both hands and wrists; no other visual changes.
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Rectangular crop inside panel A (original pixels 60,170 to 960,720) showing both hands and wrists; the panel letter is outside the crop. Decoded to PNG. No retouching, recoloring, enhancement, added arrows or upscaling.
Figure 1G, Kumrah R et al. (2022), “Blau syndrome: Lessons learned in a tertiary care centre at Chandigarh, North India,” Frontiers in Immunology 13:932919. © 2022 the authors.
CC BY 4.0 Article DOI
Cropped to panel G; no other visual changes.
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Rectangular crop to the complete lower-right panel G, retaining white border and embedded G label; decoded to PNG. No retouching, recoloring, enhancement, added arrows, or upscaling.