Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome

Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Miriam Massese, Valentina Giorgio, Fabio Corbo, Marta Tedesco, Anna Acampora, Clelia Cipolla, Donato Rigante, Giuseppe Zampino

Risultato della ricerca: Contributo in rivistaArticolo in rivista


Cardio-facio-cutaneous syndrome (CFCS) is a rare disorder characterized by distinctive craniofacial appearance, cardiac, neurologic, cutaneous, and musculoskeletal abnormalities. It is due to heterozygous mutations in BRAF, MAP2K1, MAP2K2, and KRAS genes, belonging to the RAS/MAPK pathway. The role of RAS signaling in bone homeostasis is highly recognized, but data on bone mineral density (BMD) in CFCS are lacking. In the present study we evaluated bone parameters, serum and urinary bone metabolites in 14 individuals with a molecularly confirmed diagnosis of CFCS. Bone assessment was performed through dual X-ray absorptiometry (DXA); height adjusted results were compared to age- and sex-matched controls. Blood and urinary bone metabolites were also analyzed and compared to the reference range. Despite vitamin D supplementation and almost normal bone metabolism biomarkers, CFCS patients showed significantly decreased absolute values of DXA-assessed subtotal and lumbar BMD (p ≤ 0.05), compared to controls. BMD z-scores and t-scores (respectively collected for children and adults) were below the reference range in CFCS, while normal in healthy controls. These findings confirmed a reduction in BMD in CFCS and highlighted the importance of monitoring bone health in these affected individuals.
Lingua originaleEnglish
pagine (da-a)414-421
Numero di pagine8
Stato di pubblicazionePubblicato - 2022


  • CFC syndrome


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