Successful topical sirolimus treatment of epidermal nevus in a patient with phacomatosis spilosebacea
Keywords: 
Materias Investigacion::Ciencias de la Salud::Dermatología
Phacomatosis spilosebacea
Sirolimus treatment
Epidermal nevus
Issue Date: 
2023
Publisher: 
Wiley
Citation: 
Antoñanzas, J. (Javier); Estenaga, Á. (Ángela); Pretel, M. (Maider); et al. "Successful topical sirolimus treatment of epidermal nevus in a patient with phacomatosis spilosebacea". Journal of the European Academy of Dermatology and Venereology. 00, 2023, 1 - 2
Abstract
Epidermal nevi (EN) are hamartomas of keratinocytic or epidermal appendages which are most frequently seen as isolated birthmarks. EN syndromes (ENS) are a heteroge- neous group of disorders caused by somatic mosaicism and characterized by the presence of an EN with associated in- volvement of other organ systems.1 Phacomatosis spilose- bacea (PSS) is a rare ENS defined by the co-occurrence of papular speckled lentiginous nevus (or nevus spilus) and nevus sebaceus (NS), a common type of EN.2 Postzygotic- activating HRAS mutation in a multipotent progenitor cell has been described as the underlying pathogenetic mecha- nism of both types of nevi in PSS.2,3 Treatment of EN can be challenging. Although full-thickness excision is curative, these lesions may occur in locations where the surgery would result in disfigurement. Other treatments like topical corti- costeroids, retinoic acid and 5-fluorouracil or ablative laser have been used with different and limited results.1,4

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