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Desvendando a complexidade: Síndrome Cardiofaciocutânea em mosaico que se apresenta com Elefantíase Nostras Verrucosas

Year: 2025

Type: article

Abstract: Cardiofaciocutaneous syndrome (CFC) is a rare disorder of the RAS MAPK-pathway and is characterized by dysmorphic facial appearance, hair and skin abnormalities, congenital heart defects, growth retardation and global developmental delay. We report the clinical case of a 17 -year-old female with hemihypertrophy, lymphedema, dysmorphic features and intellectual disability in whom peripheral blood panel study for RASopathies confirmed the presence of KRAS pathogenic variant c.34G>A (G12D). The ectodermal phenotype, including lymphedema appeared to be restricted to the right hemihypertrophy, and its pattern is suggestive of mosaicism for the condition, which has not previously been described in CFC, to our knowledge.

Source: Scientific Repository of Open Access of Portugal (RCAAP)

Authors: Rodrigues, Ana Sofia, Nunes da Silva, Maria de Abreu, Azevedo, Aida, Dias Carvalho, Sónia Cristina, Miranda Sousa, Álvaro Rui, Fortuna, Ana

Language: English

Topic: Protein Tyrosine Phosphatases

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W7111950224

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