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Filling in the gaps on FILS syndrome: A case report and literature review

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FILS syndrome (facial dysmorphism, immunodeficiency, livedo, and short stature) is a rare autosomal recessive disorder caused by pathogenic alterations in the POLE gene leading to multisystemic manifestations, including poorly characterized skin findings. We report a child with a homozygous variant, c.100C > T (p.Arg34Cys), in POLE and features consistent with poikiloderma, expanding the dermatologic signs associated with this rare disorder. Additionally, we review reported cases of FILS syndrome, discuss possible pathomechanisms for our patient's presentation, and consider implications for management.
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Keywords: developmental defects; genetic diseases/mechanisms; immunodeficiency; photosensitivity

Document Type: Research Article

Publication date: September 1, 2020

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