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A Case of Encephalocraniocutaneous Lipomatosis (ECCL) With Atypical Clinical Presentation Diagnosed on Molecular Testing: FGFR1 ECCL Tumor Risk.

American journal of medical genetics. Part A - 1 Aug 2026

Thakral Abhinav, Santoli Carmen Maria Avram, Idowu Olajire, Dowd Christopher, Vassar Rachel Louise, Devine Walter Patrick, Van Ziffle Jessica, Frieden Ilona J, Tam Allison, Shieh Joseph T

Abstract excerpt

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous condition caused by postzygotic mosaic activating variants in genes including FGFR1, NRAS, or KRAS. It primarily affects the skin, eyes, and central nervous system. Diagnosis is typically based on characteristic clinical features and/or molecular confirmation. Here we report a unique case of ECCL in a 12-year-old female with abdominal wall lipoma,...

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Identifiers

PMID: 41856681
DOI: 10.1002/ajmg.a.70137

Genes

FGFR1
KRAS
NRAS

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A Case of Encephalocraniocutaneous Lipomatosis (ECCL) With Atypical Clinical Presentation Diagnosed on Molecular Testing: FGFR1 ECCL Tumor Risk.PMID 41856681Read ↗

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