Multiple rhabdomyomatous mesenchymal hamartomas in a patient with mosaic Barber–Say syndrome
Aniza Giacaman,
Oriol Corral‐Magaña,
Carlos Saus Sarrias
et al.
Abstract:Barber–Say syndrome (BSS) is a rare congenital ectodermal dysplasia with few cases reported in the literature. We describe a 9‐year‐old boy with congenital generalized hypertrichosis and multiple rhabdomyomatous mesenchymal hamartomas (RMHs) on his nose and periocular region. Next‐generation sequencing, performed in DNA from a blood sample, and RMH tissue, revealed a pathogenic variant in the TWIST2 gene, which was not detected in a salivary sample of the patient, nor in his parents. Therefore, we consider thi… Show more
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