Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene.

doi:10.1136/jmg-2023-109785

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Article

Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene.

Journal of medical genetics - 29 Aug 2024

Smeijers Steven, Brems Hilde, Verhaeghe Alexander, van Paesschen Wim, van Loon Johannes, Van der Auweraer Seppe, Sciot Raf, Thal Dietmar Rudolf, Lagae Lieven, Legius Eric, Theys Tom

Abstract excerpt

Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic congenital condition characterised by ocular, cutaneous and central nervous system involvement. Mosaic activating variants in FGFR1 and KRAS have been reported in several individuals with this syndrome. We report on a patient with neurofibromatosis type 1 (NF1) with a germline pathogenic variant in the NF1 gene and an ECCL phenotype, suggesting ECCL to be...

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