Biomechanical properties of the skin in arterial tortuosity syndrome

[摘要] Arterial tortuosity syndrome (ATS) is a rare, autosomal recessively inherited connective tissue disorder caused by biallelic loss of function mutations in SLC2A10. While SLC2A10 and its product, a class III facilitative glucose transporter (GLUT10), have been implicated in ATS, the exact disease mechanism has not been fully elucidated. ATS is characterized by systemic medium and large artery lengthening and subsequent tortuosity, which significantly increases affected individual’s risk of ischemic and hemorrhagic events as well as aortic dilation and dissection. Histologically, fibroblasts and vascular tissue of affected individuals have demonstrated a dysregulation of the extracellular matrix proteins, particularly reduced and fragmented elastin fibers. While most individuals with ATS possess cutaneous findings characteristic of connective tissue disorders, ranging from soft, hyperextensible skin to visibly lax skin in redundant folds, no study has quantified differences in the biomechanical properties of the skin between individuals with ATS and healthy individuals. In this study, rapid, non-invasive, in vivo cutaneous measurements were executed using the DermaLab® Combo SkinLab to determine the functional consequences on the skin of systemic ATS in a cohort of 8 individuals, compared to 28 of their unaffected relatives. Our affected population demonstrated significantly reduced elastic modulus (E) and viscoelastic modulus (VE) when compared to unaffected individuals. Affected individuals also exhibited increased skin retraction time. This research significantly impacts public health by contributing to rare disease research, specifically by further characterizing the natural history of ATS and aiding in diagnosing the condition in the general population.

[发布机构] the University of Pittsburgh