Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach.

Autoinflammatory diseases are conditions in which pathogenic inflammation arises primarily through antigen-independent hyperactivation of immune pathways. First recognized just over 2 decades ago, the autoinflammatory disease spectrum has expanded rapidly to include more than 40 distinct monogenic conditions. Related mechanisms contribute to common conditions such as gout and cardiovascular disease.

Clinical and Molecular Phenotypes of Low-Penetrance Variants of NLRP3: Diagnostic and Therapeutic Challenges.

Objective: Cryopyrin-associated periodic syndromes (CAPS) result from gain-of-function mutations in the NLRP3 gene, which causes excessive release of interleukin-1β (IL-1β) and systemic inflammation. While pathogenetic NLRP3 variant phenotypes are well-characterized, low-penetrance NLRP3 variants represent a significant clinical challenge. The aims of this study were to determine the clinical phenotype, the in vitro biologic phenotype, and the effect of anti-IL-1 treatment in patients with low-penetrance NLRP3 variants.

Successful treatment of pearly penile papules with carbon dioxide laser resurfacing after local anesthesia in an adolescent patient.

Pearly penile papules (PPP) can cause significant psychological morbidity. Herein we report the successful use of a macrofractionated carbon dioxide laser at full-field ablative density settings for the treatment of PPP in a 17-year-old boy using local anesthetic alone. Our experience leads us to believe that PPP can be successfully treated in the pediatric and adolescent populations using this novel and relatively noninvasive technique.