Coexistence of multiple self-healing squamous epithelioma and features of Loeys-Dietz syndrome caused by a pathogenic missense variant in the kinase domain of TGFBR1

Multiple self-healing squamous epithelioma (MSSE) is characterized by development of multiple self-healing skin tumours that may affect any part of the body. Spontaneous resolution may take several months leaving pitted scars. Most pathogenic variants in patients with MSSE are truncating variants distributed throughout the gene or missense variants in the receptor domain of TGFBR1. Missense variants in the kinase domain of TGFBR1 cause Loeys-Dietz syndrome (LDS), which is a connective tissue disorder associated with increased risk of aortic and arterial aneurysms and dissection. We report the coexistence of MSSE and features of LDS caused by a pathogenic missense variant in the kinase domain of TGFBR1.