Filling in the gaps on FILS syndrome: A case report and literature review. Issue 5 (23rd July 2020)

• Record Type: Journal Article
• Authors: Eason, Chelsea; Aleisa, Ahmad; Jones, Julie R.; Prijoles, Eloise J.; Wine Lee, Lara
• Is Part Of: Pediatric dermatology. Volume 37:Issue 5(2020)
• Page Start: 915
• Page End: 917
• Publication Date: 2020-07-23
• Subjects: developmental defects -- genetic diseases/mechanisms -- immunodeficiency -- photosensitivity; Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.14274
• Languages: English
• ISSNs: 0736-8046

Abstract

Abstract: 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.