“Patient with Co-occurring Characteristics of Multiple Self-Healing Squamous Epithelioma and Loeys-Dietz Syndrome Caused by TGFBR1 Gene Variant”

https://pubmed.ncbi.nlm.nih.gov/38112607

This study reports a patient with both Multiple Self-Healing Squamous Epithelioma (MSSE) and Loeys-Dietz syndrome (LDS) characteristics, caused by a pathogenic missense variant in the kinase domain of the TGFBR1 gene, which has been previously associated with LDS but not MSSE.