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Filling in the gaps on FILS syndrome: A case report and literature review
Author(s) -
Eason Chelsea,
Aleisa Ahmad,
Jones Julie R.,
Prijoles Eloise J.,
Wine Lee Lara
Publication year - 2020
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14274
Subject(s) - medicine , facial dysmorphism , short stature , dermatology , presentation (obstetrics) , congenital disorder , poikiloderma , pediatrics , genetics , surgery , gene , phenotype , biology
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.