Abstract: A 38-year-old female patient presented with generalized cutaneous xerosis and hyperkeratosis since birth. Histopathological examination of the lesional skin revealed epidermolytic hyperkeratosis. Peripheral blood samples were collected from the patient and her parents for genetic testing, which identified a pathogenic mutation in the KRT1 gene in the patient, while no abnormalities were detected in either parent. Based on the clinical manifestations, histopathological findings, and genetic testing results, the patient was diagnosed with epidermolytic ichthyosis. Treatment was initiated with oral isotretinoin capsules, topical urea cream for skin moisturization, and potassium permanganate solution wet compresses for eroded or broken skin lesions. The patient reported significant improvement of generalized rashes after 1 month of medication and discontinued treatment voluntarily. She is currently under regular follow-up.

Key words: epidermolytic ichthyosis, KRT1 mutation