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...
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Published in | American journal of medical genetics. Part A Vol. 188; no. 9; pp. 2732 - 2737 |
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Main Authors | , , , , , , , |
Format | Journal Article |
Language | English |
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Hoboken, USA
John Wiley & Sons, Inc
01.09.2022
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Abstract | 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 <2% of cases. CFC syndrome is characterized by cardiac abnormalities, distinctive craniofacial dysmorphism, and various cutaneous abnormalities. Musculoskeletal and orthopedic manifestations are also prevalent in patients with CFC syndrome, among which the most common are skeletal deformities and joint laxities. Dysplastic bone disorders, on the other hand, have not been reported in CFC syndrome before. We report on a case of symmetrical polyostotic fibrous dysplasia (FD) in a patient with CFC syndrome with the KRAS(NM_004985.5):c.57G>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. |
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AbstractList | Abstract
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 <2% of cases. CFC syndrome is characterized by cardiac abnormalities, distinctive craniofacial dysmorphism, and various cutaneous abnormalities. Musculoskeletal and orthopedic manifestations are also prevalent in patients with CFC syndrome, among which the most common are skeletal deformities and joint laxities. Dysplastic bone disorders, on the other hand, have not been reported in CFC syndrome before. We report on a case of symmetrical polyostotic fibrous dysplasia (FD) in a patient with CFC syndrome with the
KRAS
(NM_004985.5):c.57G>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. 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 <2% of cases. CFC syndrome is characterized by cardiac abnormalities, distinctive craniofacial dysmorphism, and various cutaneous abnormalities. Musculoskeletal and orthopedic manifestations are also prevalent in patients with CFC syndrome, among which the most common are skeletal deformities and joint laxities. Dysplastic bone disorders, on the other hand, have not been reported in CFC syndrome before. We report on a case of symmetrical polyostotic fibrous dysplasia (FD) in a patient with CFC syndrome with the KRAS(NM_004985.5):c.57G>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. |
Author | Tan, Ene Choo Jamuar, Saumya Shekhar Wong, Kenneth P. L. Fortier, Marielle V. Lim, Jiin Ying Choo, Jonathan T. L. Dong, Xiaoao Png, Nicholas C. Y. |
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Snippet | Cardio‐facio‐cutaneous (CFC) syndrome (OMIM #:115150, 615278, 615279, 615280) is a rare genetic condition caused by variants in the RAS/mitogen‐activated... Cardio-facio-cutaneous (CFC) syndrome (OMIM #:115150, 615278, 615279, 615280) is a rare genetic condition caused by variants in the RAS/mitogen-activated... Abstract Cardio‐facio‐cutaneous (CFC) syndrome (OMIM #:115150, 615278, 615279, 615280) is a rare genetic condition caused by variants in the... |
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SubjectTerms | 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 |
Title | Fibrous dysplasia in cardio‐facio‐cutaneous syndrome: A case report and review of literature |
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