PMC9360485_01
(A) Perianal hyperkeratosis. (B) Diffuse palmar keratoderma and limited trunk keratoderma. (C) Limited cheek keratoderma.
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F1
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).
(A) The result of Sanger sequencing analysis. (B) Pedigree and variants identified in KDSR.
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F2
WES results were confirmed by Sanger Sequencing analysis (Figure 2).
The patient suffered from ptosis of right eye, and his father suffered from ptosis of leftt eye (his father had upper lid blepharoppasty).
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F3
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 progress timeline.
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F4