Skip to main content
padlock icon - secure page this page is secure

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

Buy Article:

$52.00 + tax (Refund Policy)

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.
No References
No Citations
No Supplementary Data
No Article Media
No Metrics

Keywords: developmental defects; genetic diseases/mechanisms; immunodeficiency; photosensitivity

Document Type: Research Article

Publication date: September 1, 2020

  • Access Key
  • Free content
  • Partial Free content
  • New content
  • Open access content
  • Partial Open access content
  • Subscribed content
  • Partial Subscribed content
  • Free trial content
Cookie Policy
X
Cookie Policy
Ingenta Connect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more