Elastin is the extracellular matrix protein in vertebrates that provides elastic recoil to blood vessels, the lung, and skin. Because the elastin gene has undergone significant changes in the primate lineage, modeling elastin diseases in non-human animals can be problematic. To investigate the pathophysiology underlying a class of elastin gene mutations leading to autosomal dominant cutis laxa,...

Age-related macular degeneration (ARMD) is the leading cause of irreversible visual loss in the Western world, affecting approximately 25 million people worldwide. The pathogenesis is complex and missense mutations in FBLN5 have been reported in association with ARMD. We have investigated the role of fibulin 5 in ARMD by completing the first European study of the gene FBLN5 in ARMD (using 2 Eur...

Autosomal recessive cutis laxa (ARCL) type 2 constitutes a heterogeneous group of diseases mainly characterized by lax and wrinkled skin, skeletal anomalies, and a variable degree of intellectual disability. ALDH18A1-related ARCL is the most severe form within this disease spectrum. Here we report on the clinical and molecular findings of two affected individuals from two unrelated families. Th...

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Elastin is the protein responsible for the characteristic elastic properties of many tissues including the skin, lungs and large blood vessels. Loss-of-function mutations in the elastin gene are known to cause the heart defect supravalvular aortic stenosis (SVAS). We and others have identified deletions, nonsense mutations and splice site mutations in SVAS patients that abolish the function of ...

Monopolar radiofrequency (RF) devices are well established treatment modalities for tightening facial skin. A 60-year-old woman presented with a desire to tighten the lax skin and improve the appearance of both upper arms. A combination unipolar and bipolar RF device may provide volume reduction as well as skin tightening in the upper arm.

© 2017 Indian Dermatology Online Journal | Published by Wolters Kluwer Medknow A 23‐year‐old female patient presented with a 5‐year history of 1–2 mm skin‐colored to yellowish, linearly arranged non‐scaly papules and plaques over the axillae and lateral aspects of the neck [Figures 1 a‐c]. The lesions were gradually progressive and associated with increased skin laxity. Mucosae appeared normal....