Phacomatosis Pigmentokeratotica: A Case Report

Aline Guimarães Grana, Caroline Chirano, Louise Makarem Oliveira, Júlia Fernandes, Luciana Santos

Abstract


Phacomatosis pigmentokeratotica is a rare variant of the epidermal nevus syndrome, characterized by the association of a nevus sebaceous with nevus spilus and extracutaneous manifestations, which often involve the central nervous system, the skeleton or the kidneys. We report a patient who presented a congenital extensive nevus sebaceous in the head following the Blaschko lines, multiple speckled lentiginous nevus in the right hemibody, and skeleton abnormalities due to hypophosphatemic rickets. We emphasize the importance of understanding the epidermal nevus syndrome and its different clinical presentations, namely its extracutaneous manifestations, and we call the attention to cutaneous signs related to osteometabolic disorders.


Keywords


Mutation; Nevus, Pigmented; Skin Neoplasms/genetics

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References


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DOI: http://dx.doi.org/10.29021/spdv.77.1.1005

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