Squamous cell carcinoma and MYH9-associated elastin aggregation (MALTA) syndrome

Abstract

MYH9-associated elastin aggregation (MALTA) syndrome is a rare inherited syndrome of irregular elastin aggregation and sweat duct proliferation associated with pathogenic variants in MYH9. MALTA syndrome was first proposed in 2019, unifying Nicolau–Balus and Rombo syndromes as phenotypes arising from pathogenic variants in the same gene; however, it has not been associated with cutaneous squamous cell carcinoma (cSCC). Here, we report the clinical features of a family with a novel MYH9 c.1952A>C p.(Lys651Thr) pathogenic variant, providing evidence that cSCC development may be an associated feature of MALTA syndrome.