Nevus Sebaceous Syndrome

Flavia La Mendola; Stefano Catanzaro; Andrea D. Praticò; Agata Polizzi; Carmelo Schepis; Concetta Pirrone; Antonio Zanghì; Stefania Salafia; Martino Ruggieri; Francesco Lacarrubba; Giuseppe Micali; Anna Elisa Verzì; Jeffrey L. Sugarman

doi:10.1055/s-0038-1667170

Journal of Pediatric Neurology, Table of Contents

Journal of Pediatric Neurology 2018; 16(05): 338-346
DOI: 10.1055/s-0038-1667170

Review Article

Georg Thieme Verlag KG Stuttgart · New York

Nevus Sebaceous Syndrome

Authors

Flavia La Mendola

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy
Stefano Catanzaro

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy
Andrea D. Praticò

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy

²Maurice Woh Clinical Neuroscience Institute, King's College London, London, United Kingdom
Agata Polizzi

³Institute of Neurological Sciences, National Research Council, Catania, Italy
Carmelo Schepis

⁴Unit of Dermatology, Oasi Research Institute - IRCCS, Troina, Enna, Italy
Concetta Pirrone

⁵Section of Psychology, Department of Educational Sciences University of Catania, Catania, Italy
Antonio Zanghì

⁶Department of Medical and Surgical Sciences and Advanced Technology “G.F. Ingrassia,” University of Catania, Catania, Italy
Stefania Salafia

⁷Unit of Pediatrics, Lentini Hospital, Lentini, Italy
Martino Ruggieri

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy
Francesco Lacarrubba

⁸Dermatology Clinic, University of Catania, Catania, Italy
Giuseppe Micali

⁸Dermatology Clinic, University of Catania, Catania, Italy
Anna Elisa Verzì

⁸Dermatology Clinic, University of Catania, Catania, Italy
Jeffrey L. Sugarman

⁹Department of Dermatology, University of California San Francisco, Santa Rosa, California, United States

Abstract

Nevus sebaceous (NS) is a hamartomatous disorder of the skin and adjacent tissues characterized by epidermal, follicular, sebaceous, and apocrine gland abnormalities. It occurs in approximately 1 in 1,000 live births. A hyperactivation of Ras pathways has been recently assumed to be the cause of this phenotype. NS lesions may be isolated or coupled with extracutaneous manifestations, mostly of the central nervous, ocular, and skeletal systems, or kidneys; in this case, the term “NS syndrome” is used. Cutaneous distribution of NS usually follows the linear patterns known as “lines of Blaschko,” with lines that do not follow the segmental trajectory of the peripheral sensory nerves but instead reflect the streams or trends of growth of embryonic tissues. Histological characteristics of the lesions appear to be actually more decisive than the clinical evaluation to distinguish between the types of epidermal nevus: the typical NS has both papillated epidermal hyperplasia and a predominance of subjacent abnormal follicular–sebaceous glands.

Seizures, mental retardation, and/or cognitive developmental delay are the most common neurologic abnormalities associated with NS and usually are present within the first months of life; eye and skeletal involvement may be present as well.

The definitive treatment of NS is full-thickness excision. However, the necessity and timing of excision to prevent possible future malignancy are not clear; lasers and photodynamic therapy are alternatives currently being explored for the treatment of NS, with varying degrees of success.

Keywords

nevus sebaceous - Schimmelpenning's syndrome - hamartoma - brain malformations - epilepsy - ocular involvement

Full Text

References

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