Abstract
Background: Epidermal nevi are hamartomatous, closely set, usually verrucous papules that may coalesce to form papillomatous plaques. A linear configuration is common. A systematized epidermal nevus has a diffuse or extensive distribution and, at times, can be associated with internal abnormalities and malignancies. Neurofibromatosis 1 (NF1) is an autosomal dominant disorder characterized by neurofibromas, café-au-lait macules, and axillary freckling. NF1 can also be associated with systemic abnormalities and neoplasms. Objective: Our aim was to determine if there is an association between epidermal nevi and NF1. Methods: A patient with both NF1 and a systematized epidermal nevus underwent physical examination, skin biopsies, ophthalmologic and neurologic examinations, laboratory analysis, chest and lumbosacral spine films, computed tomographic scan of the head, and renal sonogram. Results: Our patient fulfilled the criteria for NF1 and had epidermal nevi. This is, to our knowledge, the first report of NF1 and a systematized epidermal nevus appearing in the same patient. NF1 and epidermal nevi have been shown to have specific gene defects on different chromosomes. Conclusion: It is most probable that the simultaneous occurrence of NF1 and epidermal nevi is a sporadic event.
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