Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome is a rare sporadic RASopathy with unilateral cutaneous lesions and eye and brain malformations resulting from specific sporadic mosaic activating mutations in the gene coding for fibroblast growth factor receptor 1 (FGFR1, p.N546K or p.K656E) or mosaic KRAS mutations in codon 146. Both sexes are affected and not more than 54 cases have been reported since 1970. The clinical findings range from severe forms with fatal outcomes to milder forms with minor neurologic and ocular manifestations. The timing of this mesenchymal disease affecting mostly neural crest derivatives is probably restricted to the first trimester of gestation, when the neural tube develops from the ectodermal layer and the cells of mesoderm migrate. The clinical symptoms, diagnosis, and management options are reviewed in this chapter.
Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome is a rare sporadic RASopathy with unilateral cutaneous lesions and eye and brain malformations resulting from specific sporadic mosaic activating mutations in the gene coding for fibroblast growth factor receptor 1 (FGFR1, p.N546K or p.K656E) or mosaic KRAS mutations in codon 146. Both sexes are affected and not more than 54 cases have been reported since 1970. The clinical findings range from severe forms with fatal outcomes to milder forms with minor neurologic and ocular manifestations. The timing of this mesenchymal disease affecting mostly neural crest derivatives is probably restricted to the first trimester of gestation, when the neural tube develops from the ectodermal layer and the cells of mesoderm migrate. The clinical symptoms, diagnosis, and management options are reviewed in this chapter.