Epidermolytic ichthyosis (EI, OMIM 113800) is a rareautosomal dominant keratinization disorder that iscaused by keratin 1 or keratin 10 gene mutation. It canbe classified clinically based on the presence ofpalmoplantar hyperkeratosis involvement andextent of skin involvement. The diagnosis is made byclinical and histopathological examinations that canbe confirmed by genetic testing. We present a 2-yearold girl who presented with erythematous and thickscaling skin. Her condition began at birth as multipleflaccid blisters that would easily break into erosions.There was no history of similar condition norconsanguinity within her family. Skin examinationrevealed diffuse erythematous skin covered withthick scales and erosion, predominantly on her face,extremities, palms, and soles. The skinhistopathology examination showed diffuseparakeratosis with vacuolar and granulardegeneration within granular and spinous layersalong the epidermis. She was diagnosed withgeneralized EI with palmoplantar hyperkeratosisbased on the clinical and histopathologicalexaminations. Clinical improvement was observedafter a one-month treatment with mupirocin cream,sodium bicarbonate bath, and moisturizer afterbathing.
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