Affiliation:
1. Department of Dermatology Northwestern University Feinberg School of Medicine Chicago Illinois USA
2. Department of Dermatology Stanford University Palo Alto California USA
3. Department of Dermatology Medical College of Wisconsin Milwaukee Wisconsin USA
Abstract
AbstractOlmsted syndrome (OS) is a rare genetic disorder, characterized by painful palmoplantar keratoderma (PPK), periorificial and intertriginous hyperkeratoses, and alopecia. Fewer than 75 cases have been described. Variants in TRPV3 result in constitutive activation of transient receptor potential vanilloid 3, leading to increased epidermal growth factor receptor (EGFR) signaling, palmoplantar epidermal hyperproliferation, and exquisite lesional pain. We describe pre‐school aged twins with OS with partial improvement from oral erlotinib, an EGFR inhibitor, but dramatic reduction of their persistent palmoplantar thickening and pain from adding acitretin.
Subject
Dermatology,Pediatrics, Perinatology and Child Health