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

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.

Moderate-to-severe atopic dermatitis patients show increases in serum C-reactive protein levels, correlating with skin disease activity.

Background: Atopic dermatitis (AD), the most common chronic inflammatory skin disease, is evolving as a systemic disease, and associated systemic inflammation is possibly linked to increases in cardiovascular disease. Methods: We assessed levels of the inflammatory marker CRP in 59 patients with moderate-to-severe AD compared to matched healthy controls, and to determine correlation with skin disease severity. Clinical severity was measured using SCORing of Atopic Dermatitis (SCORAD) and body surface area (BSA). Control subjects (n=118), matched by age, gender, smoking status and ethnicity, were obtained from the National Health and Nutrition Survey (NHANES). Results: AD patients had significantly increased serum CRP levels compared to controls (0.7±1.0 vs. 0.4±0.7mg/dl; p=0.001). CRP levels were significantly correlated with both SCORAD (r=0.427, p=0.0008) and BSA (r=0.407, p=0.0015).  IgE levels in AD were highly elevated (median 2903U/ml, IQR [234,10655]), but only weakly correlated with SCORAD (r=0.282, p=0.0427) and BSA (r=0.382, p=0.0052), but not with CRP levels. AD patients also showed increased LDH levels, but without significant correlations with disease severity (SCORAD, BSA) or CRP. Conclusions: Our study strongly supports CRP as a marker for disease severity in moderate-to-severe AD patients, further demonstrating its chronic systemic nature.