Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome.
CFC syndrome is a genetically heterogenous condition. Missense mutations have been identified in BRAF, KRAS, MEK1 and MEK2. We have reported here a KRAS mutation in a baby girl with an early clinical diagnosis of CFC syndrome associated with a large ulcerating hemangioma. Although ectodermal abnormalities have been described in all individuals with this condition, features such as ichthyosis and hemangioma have been previously found only in those patients carrying a mutation in BRAF, and not in KRAS. The findings we have described contrast with these observations. The relatively high frequency of hemangiomas in CFC syndrome suggests that defects in the expression of the MAPK pathway may alter endothelial cell proliferation. Increased understanding of how the molecular pathways with which defects in CFC syndrome predispose affected individuals to hemangiomas might offer insights into the pathogenesis of this common childhood tumour in the general population.
Tang
Ben
B
Academic Unit of Medical Genetics and Regional Genetic Service, Central Manchester and Manchester University Hospital NHS Trust, Manchester, UK National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Dublin, Republic of Ireland.
Reardon
Willie
W
Black
Graeme C
GC
Kerr
Bronwyn A
BA
D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006391:Hemangioma / Q000150:complications* / Q000151:congenital*; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D016283:Proto-Oncogene Proteins p21(ras); D013577:Syndrome; D018631:ras Proteins / Q000235:genetics*
C117307:KRAS protein, human; D011518:Proto-Oncogene Proteins; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins