NLRP1-associated autoinflammatory disease with epithelial dyskeratosis.

Several gain-of-function variants in NLRP1 cause a distinctive autoinflammatory disease reported under different names featuring mainly skin and mucosal involvement and variable systemic signs. Here, we report a new case of NLRP1-associated autoinflammatory disease in a 6-year-old Peruvian girl, who presented with confluent hyperkeratotic plaques that drained purulent material with subsequent scarring. A c.

Dermatologic Review in Pediatric Vascular Lesions.

Vascular anomalies (VAs) can be present in any organ; however, the skin being the largest one, it is there where many of them are evident; some are visible at birth, others develop throughout life. Pediatric dermatologists are specially trained to distinguish VAs from their mimickers, which require different treatments and may harbor distinct prognoses. We resume the diagnostic and therapeutic tasks of pediatric dermatologist at our vascular anomaly clinics, as well as the differential diagnoses of mimickers of VAs.