Ultrastructural Skin Changes in Egyptian Mandibuloacral Dysplasia Patients with p.Arg527Leu LMNA Mutation and in Their Asymptomatic Heterozygotic Mothers

The study investigated ultrastructural skin changes in Egyptian patients with mandibuloacral dysplasia (MAD) carrying the p.Arg527Leu mutation in the LMNA gene and their asymptomatic heterozygotic mothers. The LMNA gene, crucial for nuclear envelope stability, is linked to various diseases, including Hutchinson–Gilford progeria syndrome (HGPS), characterized by symptoms like alopecia and skin abnormalities. The research highlighted the role of LMNA mutations in skin pathology, noting similarities with HGPS, such as atrophic epidermis and dermal fibrosis. The findings suggested that even asymptomatic carriers might exhibit subtle skin changes, emphasizing the mutation's impact on skin structure and function.