Hypotrichosis in a Child with Olmsted Syndrome

This case report described a 5-year-old male with Olmsted syndrome, a rare keratinizing disorder, presenting with hypotrichosis, painful keratotic plaques, and flexion contractures. The child exhibited sparse, short, and light-colored hair, reduced hair shaft diameter, and trichoschisis. Treatment with oral acitretin, emollients, and nutritional supplements led to mild improvement. The report highlighted the rarity of hair abnormalities in Olmsted syndrome and suggested a potential link to TRPV3 gene mutations, though genetic testing was not performed due to financial constraints. Further research on the clinical phenotypes and genetics of Olmsted syndrome was recommended.