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Nevus sebaceus and nevus sebaceus syndrome

Author
Teresa S Wright, MD, FAAD, FAAP
Section Editor
Moise L Levy, MD
Deputy Editor
Rosamaria Corona, MD, DSc

INTRODUCTION

Nevus sebaceus, also called nevus sebaceus of Jadassohn or organoid nevus, is a benign hamartoma of the skin, characterized by hyperplasia of the epidermis, immature hair follicles, and sebaceous and apocrine glands. Lesions are usually present at birth and appear as waxy, yellow-orange or tan, hairless plaques (picture 2C). They have a tendency to thicken and become more verrucous over time, especially around the time of puberty [1].

Nevus sebaceus and the nevus sebaceus syndrome, also called Schimmelpenning syndrome, will be reviewed in this topic. The linear epidermal nevus and epidermal nevus syndrome are discussed separately. (See "Epidermal nevus and epidermal nevus syndrome".)

EPIDEMIOLOGY

Nevus sebaceus occurs in approximately 0.3 percent of newborns, without sex predilection. It is usually sporadic, but familial cases have been reported [2,3].

PATHOGENESIS

Nevus sebaceus and nevus sebaceus syndrome (Schimmelpenning syndrome) are thought to be caused by postzygotic mosaic mutations in the HRAS or KRAS genes [4], although isolated cases due to mosaic mutations in NRAS and FGFR2 have also been reported [5,6]. Along with phacomatosis pigmentokeratotica, cutaneous-skeletal hypophosphatemia syndrome (CSHS), keratinocytic epidermal nevi, and some melanocytic nevi, they are included in the group of the so-called mosaic RASopathies [7,8]. (See 'Phacomatosis pigmentokeratotica' below.)

RAS promotes cell growth through activation of multiple pathways, including the mitogen-activated protein kinase (MAPK) signal-transduction pathway. Activating germline mutations in this gene family are involved in the pathogenesis of several inherited malformation syndromes (eg, Costello syndrome, Noonan syndrome, neurofibromatosis 1, Legius syndrome), some of which are associated with an increased risk of cancer. (See "Causes of short stature", section on 'Noonan syndrome' and "Neurofibromatosis type 1 (NF1): Pathogenesis, clinical features, and diagnosis".)

           
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Literature review current through: Oct 2017. | This topic last updated: Nov 15, 2017.
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