Somatic mutations in genes of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway cause segmental overgrowth, hamartomas, and malignant tumors. Mosaicism for activating mutations in AKT1 or PIK3CA cause Proteus syndrome and PIK3CA-Related Overgrowth…
Cylindromas are cutaneous tumors first described in the medical literature over 150 years ago. They are now known to occur on an inherited basis as a result of mutations in the…
Autoinflammatory disorders are sterile inflammatory conditions characterized by episodes of early-onset fever, rash, and disease-specific patterns of organ inflammation. Gain-of-function mutations in innate danger-sensing pathways, including the inflammasomes and the…
Antimicrobial peptides are central effector molecules in skin immunology. The functions of antimicrobial peptides in skin diseases include the ability to act as cytokines or growth factors, driving disorders such…
DOCK8 deficiency is an autosomal recessive combined immunodeficiency disease associated with elevated IgE, atopy, recurrent sinopulmonary and cutaneous viral infections, and malignancy. The DOCK8 protein is critical for cytoskeletal organization,…
Commensal bacteria live intimately and in constant dialogue with skin immune cells. Regulating our immune response to these bacteria is critical for skin homeostasis. Using a new murine model to…
John J. DiGiovanna, MD, Editor Dermatologists are curious, perhaps because what we see in clinic often challenges our understanding. Several recent scientific advances have yielded breakthroughs that help explain some…
The pathogenesis of vitiligo involves interplay between intrinsic and extrinsic melanocyte defects, innate immune inflammation, and T-cell–mediated melanocyte destruction. The goal of treatment is to not only halt disease progression…
Vitiligo reflects simultaneous contributions of multiple genetic risk factors and environmental triggers. Genomewide association studies have discovered approximately 50 genetic loci contributing to vitiligo risk. At many vitiligo susceptibility loci,…
Vitiligo is an autoimmune disorder that involves the interplay between oxidative stress and the immune system. Preliminary observations suggest that the presence of gluten in the diet may play a…
