A case of Olmsted syndrome with dramatic response to erlotinib.

Oldham, Jaimie; O'Toole, Edel

A 63-year-old man with Olmsted syndrome, a rare genetic condition, experienced intense pain and severe impact on his quality of life. Genetic testing confirmed a TRPV3 mutation, and treatment with erlotinib led to a dramatic improvement in pain within 24 hours. The patient's condition significantly improved over three months with erlotinib, highlighting its effectiveness in treating Olmsted syndrome. This case adds to the evidence supporting erlotinib as a potential treatment option for this condition.

TRP channels; EPIDERMAL growth factor receptors; DRUG efficacy; GAIN-of-function mutations; PROTEIN-tyrosine kinase inhibitors

Clinical & Experimental Dermatology, 2024, Vol 49, Issue 12, p1755

0307-6938

Academic Journal

10.1093/ced/llae193