Cutaneous Manifestations of Lightning Injury: A Review of the Literature.

Lightning is a rare but potentially devastating cause of injury and mortality. The cutaneous burns associated with lightning strikes demonstrate peculiar pathognomonic signs and patterns. In this review of the literature, we discuss the epidemiology and etiology of lightning injuries, lightning compared to other forms of high voltage electrical injury, the clinical features of lightning injuries, the most common cutaneous manifestations associated with lightning strikes, and the treatment and prevention of lightning injuries. Some of the cutaneous manifestations include feathering lesions, linear burns, punctate burns, and thermal injuries. While not considered true burns, Lichtenburg figures display a unique ferning pattern. Although lightning injuries are typically superficial, transient, and resolve relatively quickly compared to other electrical burns, the ability to recognize their cutaneous manifestations may improve emergent care and life-saving measures for these victims. Additionally, superficial surface burns secondary to lightning injury do not preclude systemic injury and significant pathology may be underlying.

Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida.

Anterior segment dysgenesis (ASD) comprises a wide spectrum of developmental conditions affecting the cornea, iris, and lens, which may be associated with abnormalities of other organs. To identify disease-causing variants, we performed exome sequencing in 24 South Florida families with ASD. We identified 12 likely causative variants in 10 families (42%), including single nucleotide or small insertion-deletion variants in B3GLCT, BMP4, CYP1B1, FOXC1, FOXE3, GJA1, PXDN, and TP63, and a large copy number variant involving PAX6. Four variants were novel. Each variant was detected only in one family. Likely causative variants were detected in 1 out of 7 black and 9 out of 17 white families. In conclusion, exome sequencing for ASD allows us to identify a wide spectrum of rare DNA variants in South Florida. Further studies will explore missing variants, especially in the black communities.