Fibrous dysplasia in cardio‐facio‐cutaneous syndrome: A case report and review of literature

Cardio‐facio‐cutaneous (CFC) syndrome (OMIM #:115150, 615278, 615279, 615280) is a rare genetic condition caused by variants in the RAS/mitogen‐activated protein kinase (MAPK) signal transduction pathway. Up to 75% of cases are caused by mutations in the BRAF gene, whereas KRAS gene mutation has onl...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2022-09, Vol.188 (9), p.2732-2737
Main Authors: Dong, Xiaoao, Png, Nicholas C. Y., Fortier, Marielle V., Lim, Jiin Ying, Wong, Kenneth P. L., Choo, Jonathan T. L., Tan, Ene Choo, Jamuar, Saumya Shekhar
Format: Article
Language:English
Subjects:
Bone diseases
Bone lesions
cardio‐facio‐cutaneous syndrome
Case reports
Craniofacial syndromes
Dermoid Cyst
Ectodermal Dysplasia - complications
Ectodermal Dysplasia - diagnosis
Ectodermal Dysplasia - genetics
Facies
Failure to Thrive - genetics
Failure to Thrive - pathology
Fibrous dysplasia
Heart Defects, Congenital - complications
Heart Defects, Congenital - diagnosis
Heart Defects, Congenital - genetics
Humans
K-Ras protein
Kinases
KRAS
MAP kinase
Mutation
Patients
Point mutation
polyostotic
Protein kinase
Proto-Oncogene Proteins B-raf - genetics
Proto-Oncogene Proteins p21(ras)
RASopathy
Signal transduction
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Cardio‐facio‐cutaneous (CFC) syndrome (OMIM #:115150, 615278, 615279, 615280) is a rare genetic condition caused by variants in the RAS/mitogen‐activated protein kinase (MAPK) signal transduction pathway. Up to 75% of cases are caused by mutations in the BRAF gene, whereas KRAS gene mutation has only been reported in C; p.Leu19Phe variant. The FDs were incidentally picked up, and patient was conservatively managed and remained asymptomatic on follow‐up. The same variant was reported previously in a patient with Oculoectodermal Syndrome (OES), who developed polyostotic non‐ossifying fibroma (NOF). This case explores FD as a possible new clinical feature of CFC syndrome, and when linked to the historical case of OES, explores whether the KRAS(NM_004985.5):c.57G>C; p.Leu19Phe mutation may potentially contribute to the development of dysplastic bone lesions in patients with this particular mutation.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62879