Figure 2.

Features of Individuals 3 and 4

Individual 3 (A–J) is the index patient of this family, and individual 4 (K–O) is her 8-year-old daughter. Both have the p.Tyr740Cys DDR2 variant.

(A and B) Slit-lamp microscopy images of the mother’s anterior segment. There was complete conjunctivalization of the right cornea with symblepharon formation (A) and superior vascular pannus in the left eye (B).

(C) A specular microscopy image of the cornea of individual 3 (C). The image shows disruption of the healthy hexagonal endothelial morphology.

(D) A normal image is shown for comparison.

(E and F) Extreme flexion contractures of the mother’s hands, as well as scarring and adhesions of the flexor surfaces of the digits and palm.

(G) A few of the annular plaques with features that are similar to those of keloids, though they have an atypical maroon-brown pigmentation. The more distal, lighter-pigmented lesion had been excised, after which it recurred and was treated with intralesional corticosteroids.

(H–J) Feet and radiographs featuring acro-osteolysis, lateral deviation of the digits, and extreme connective-tissue overgrowth leading to subsequent fusion of the toes.

(K–O) Images of the 8-year-old daughter show a 90-degree flexion contracture of the right fourth finger (K), scar-like lesions of the palm, mild contraction of the left fourth finger, and asubtle, scar-like lesion in the palm proximal to that digit (L). The radiograph shows an absence of major osteolysis in the feet, whichappeared largely normal aside from a deviated, deformed distal phalanx of the left fourth toe.