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CASE REPORT A 13-year-old student presented with symptoms since the age of 2 when peanut-sized erythema and mild desquamation developed on the posterior neck. Keratinization on the extensor surfaces of the limbs and peanut-sized erythema on the flexor surfaces began appearing at the age of 6. By the age of 9, the erythema and desquamation on the posterior neck had spread to the entire neck. The symptoms worsened in winter and lightened in summer. The patient’s mother had a history of dry skin. On examination, the skin of the torso and limbs was dry with few scales. Round brown dyspigmentation was observed on the skin overlying the knees. Reticular erythema and telangiectasia were seen on the neck. Symmetrical and clear atrophic erythema and telangiectasia were on both axillae. Rough and light red erythema with scales and slight rhagades were on both elbows, palm metatarsals, fingers, dorsal hands, and popliteal fossae, and diamond and polygonal scales appeared on both calves. Wax drop phenomenon, film phenomenon, and Auspitz sign were negative (Fig 1). The rub test and the Nikolsky sign were negative. A skin biopsy was taken from the right axillae, with hematoxylin-eosin and elastic fiber staining. (Fig 2). Through gene high-throughput sequencing and Sanger verification, we found that the FLG gene had

Unique variants in the FLG gene and FERMT1 gene in a Chinese patient with ichthyosis and Kindler syndrome