A case of Conradi-Hünermann-Happle syndrome treated with topical simvastatin-cholesterol ointment

Zevallos J.; Susano S. · Pediatric Dermatology (2025) · DOI: 10.1111/pde.15739

Resumen

Conradi-Hünermann-Happle syndrome is a rare genodermatosis affecting cholesterol metabolism caused by pathogenic variants in the emopamil binding protein (EBP) gene. It presents with skin, skeletal, and ophthalmological alterations. Cutaneous findings include hyperkeratotic lesions following Blaschko lines that subsequently improve leaving scarring alopecia and patches of atrophy. The purpose of this case report is to present a case of a patient treated with simvastatin-cholesterol ointment.