A case of Conradi-Hünermann-Happle syndrome treated with topical simvastatin-cholesterol ointment.
作者信息
Zevallos Jean, Susano Stephanie
机构信息
Dermatology Service, Department of Medicine, Hospital Maria Auxiliadora, Lima, Peru.
出版信息
Pediatr Dermatol. 2025 Jan-Feb;42(1):208-209. doi: 10.1111/pde.15739. Epub 2024 Aug 21.
PMID:39168486
Abstract
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.
摘要
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