Nikki Elmi

By Nikki Elmi By Nikki Elmi Ehlers-Danlos Syndrome (EDS) is a group of rare inherited connective tissue disorders that affect the body’s ability to produce or process collagen, an essential protein that provides strength and elasticity to skin, ligaments, blood vessels, and organs. First described by dermatologists Edvard Ehlers and Henri-Alexandre Danlos in the early 1900s, EDS has since been classified into 13 distinct subtypes based on genetic, biochemical, and clinical features. Common...

By Nikki Elmi Macrodystrophia Lipomatosa (MDL) is a rare congenital overgrowth disorder characterized by an excessive and disproportionate growth of one or more digits (fingers or toes), and sometimes an entire limb. The overgrowth involves not just adipose (fat) tissue but also other mesenchymal components; bone, nerves, connective tissue, possibly muscles and periosteum. Typically present from birth or early childhood, the disorder often becomes more prominent as the child grows. The...

By Nikki Elmi Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) and Pediatric Autoimmune Neuropsychiatric Disorders Associated with...