In the last few years, de novo mutations in the GNB1 gene have been found to cause a neurodevelopmental disorder typically characterized by global developmental delay and hypotonia. Only 4 cases of maculopapular cutaneous mastocytosis in children with GNB1 mutations have been reported to date. Here, we describe another case of the condition with concomitant cutaneous mastocytosis.

Atopic dermatitis (AD) is a common and chronic inflammatory skin disease that can adversely affect quality of life and carry significant burdens on physical, emotional, and social health. Recent evidence suggests that AD may also impair cognition, including attention and memory. In a pilot study of six children with AD, we administered a comprehensive battery of assessments to evaluate cognition and behavior and found that this approach was feasible and practical, which will enable the conduct of future larger-scale studies to characterize the impact of AD on cognitive function.atopic dermatitis, quality of life | INTRODUCTIONAtopic dermatitis (AD) affects 20% of children and is associated with impairments in sleep and mood. [1][2][3] Recent studies have reported worse patient-perceived cognition among adults with severe AD and higher rates of parent-reported memory impairment and inattention among children with AD. 4 However, more comprehensive investigations of cognition using validated clinical instruments that span multiple domains are lacking. Here we present a feasibility study of children with AD whose cognitive function was assessed using both objective and patientreported measures of general cognition, executive function and behavior.

No abstract