case_images: PMC9360485_01
case_images: (A) Perianal hyperkeratosis. (B) Diffuse palmar keratoderma and limited trunk keratoderma. (C) Limited cheek keratoderma.
case_images: fped-10-940618-g0001.jpg
case_images: PMC9360485_01_fped-10-940618-g0001.jpg
case_images: F1
case_images: He presented to our hospital at the age of 2 years, and perianal hyperkeratosis was observed on examination (Figure 1A). At the age of 2 years and 6 months, there were cracks in his hands and trunk and the appearance of hyperkeratosis (Figure 1B). At the age of 3 years, his cheek had new lesions (Figure 1C).
case_images: (A) The result of Sanger sequencing analysis. (B) Pedigree and variants identified in KDSR.
case_images: fped-10-940618-g0002.jpg
case_images: PMC9360485_01_fped-10-940618-g0002.jpg
case_images: F2
case_images: WES results were confirmed by Sanger Sequencing analysis (Figure 2).
case_images: The patient suffered from ptosis of right eye, and his father suffered from ptosis of leftt eye (his father had upper lid blepharoppasty).
case_images: fped-10-940618-g0003.jpg
case_images: PMC9360485_01_fped-10-940618-g0003.jpg
case_images: F3
case_images: In addition, the patient suffered from ptosis of the right eye at birth, and his father and grandfather also presented with ptosis of the left eye (Figure 3).
case_images: Case progress timeline.
case_images: fped-10-940618-g0004.jpg
case_images: PMC9360485_01_fped-10-940618-g0004.jpg
case_images: F4