Cutaneous mastocytosis in a child with a de novo GNB1 mutation. Issue 2 (4th February 2022)

• Record Type: Journal Article
• Authors: Lattanzio, Katherine; Larijani, Mary; Treat, James R.
• Is Part Of: Pediatric dermatology. Volume 39:Issue 2(2022)
• Page Start: 328
• Page End: 329
• Publication Date: 2022-02-04
• Subjects: genetic diseases/mechanisms -- mastocytosis; Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.14913
• Languages: English
• ISSNs: 0736-8046

Abstract

Abstract: 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.