Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth
with fragile blisters and erosions that evolve into hyperkeratotic lesions associated
or not with erythroderma. When the disease is associated with a mutation in
cytokeratin 1, it may be related to hyperkeratosis of palms and soles, but this is
not usually found when cytokeratin 10 is mutated. The disease can present in a mosaic
form, due to post zygotic mutation of the gene involved, constituting an individual
formed by two populations of genetically distinct cells - one carrier of the mutation
and the other without it. We report a case of mosaic epidermolytic ichthyosis
diagnosed in a female patient.
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