Next-generation sequencing in dermatology.

Over the past decade, Next-Generation Sequencing (NGS) has advanced our understanding, diagnosis, and management of several areas within dermatology. NGS has emerged as a powerful tool for diagnosing genetic diseases of the skin, improving upon traditional PCR-based techniques limited by significant genetic heterogeneity associated with these disorders. Epidermolysis bullosa and ichthyosis are two of the most extensively studied genetic diseases of the skin, with a well-characterized spectrum of genetic changes occurring in these conditions. NGS has also played a critical role in expanding the mutational landscape of cutaneous squamous cell carcinoma, enhancing our understanding of its molecular pathogenesis. Similarly, genetic testing has greatly benefited melanoma diagnosis and treatment, primarily due to the high prevalence of BRAF hot spot mutations and other well-characterized genetic alterations. Additionally, NGS provides a valuable tool for measuring tumor mutational burden, which can aid in management of melanoma. Lastly, NGS demonstrates promise in improving the sensitivity of diagnosing cutaneous T-cell lymphoma. This article provides a comprehensive summary of NGS applications in the diagnosis and management of genodermatoses, cutaneous squamous cell carcinoma, melanoma, and cutaneous T-cell lymphoma, highlighting the impact of NGS on the field of dermatology.

Pulmonary Embolism after Liposuction Totally by Tumescent Local Anesthesia in a Patient with Large Uterine Fibroids.

A fatal pulmonary embolism occurred in a 43-year-old black woman after tumescent liposuction totally by local anesthesia. An autopsy revealed large uterine fibroids, peri-uterine vascular thrombi, and a large saddle pulmonary embolism. Large uterine fibroids are a risk factor for postsurgical venous thromboembolism. Fatal outcomes after tumescent liposuction totally by local anesthesia are exceedingly rare.

Tumescent contravenom: murine model for prehospital treatment of Naja naja neurotoxic snake envenomation.

BACKGROUND: Snake envenomation is a neglected global health problem. There is a need for a prehospital treatment of neurotoxic snakebite that prolongs survival and allows time for a victim to reach a hospital for antivenom therapy. Tumescent epinephrine consists of a large volume of dilute epinephrine (2 mg/l) injected subcutaneously. It functions as "contravenom" by causing capillary vasoconstriction and delaying venom absorption. METHODS: A murine model of neurotoxic envenomation using lidocaine as a surrogate for neurotoxic snake venom was first developed in a pilot study. A lethal dose of lidocaine was injected subcutaneously into control and treatment groups. Mice in the treatment group were then treated with a tumescent infiltration of dilute epinephrine in saline, while control mice either received no treatment or tumescent infiltration with saline alone. The experiment was repeated using lethal doses of neurotoxic Naja naja cobra venom. The main end-points were survival rate and survival time. RESULTS: None of the control mice survived a lethal (LD100 ) dosage of subcutaneous lidocaine. Mice given an LD100 of subcutaneous lidocaine and treated immediately with tumescent epinephrine had 80% survival. Following LD50 doses of Naja naja venom, 50% of control mice survived, while 94% survived when treated immediately with tumescent epinephrine (P < 0.01). All animals died following LD100 doses of Naja naja venom, but survival was significantly prolonged (P < 0.0001) by immediate tumescent epinephrine. CONCLUSIONS: Tumescent epinephrine, when given immediately after toxin injection, improves survival rates in mice following neurotoxic doses of lidocaine or Naja naja cobra venom.