A 19-month-old boy of a consanguineous marriage presented with skin lesions and joint contracture since birth. The activity of his shoulder joint was restricted at birth followed by the knees, finger joints, and spine over the next several months. Red papules were first detected on the forehead,and then appeared on his back, buttocks, and thighs. His dietary intake was limited by severe gingival hyperplasia. He had already had 4 episodes of recurrent pneumonia. He had 2 healthy sisters and 1 brother with similar manifestations, who died of recurrent pneumonia at age 31 months.
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Liu L, Tan Q, Ren F. Infantile Systemic Hyalinosis. JAMA Dermatol. Published online September 11, 2019. doi:10.1001/jamadermatol.2019.2713
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