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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

Flavia La Mendola
1   Unit 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
1   Unit 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
1   Unit 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
2   Maurice Woh Clinical Neuroscience Institute, King's College London, London, United Kingdom
,
Agata Polizzi
3   Institute of Neurological Sciences, National Research Council, Catania, Italy
,
Carmelo Schepis
4   Unit of Dermatology, Oasi Research Institute - IRCCS, Troina, Enna, Italy
,
Concetta Pirrone
5   Section of Psychology, Department of Educational Sciences University of Catania, Catania, Italy
,
Antonio Zanghì
6   Department of Medical and Surgical Sciences and Advanced Technology “G.F. Ingrassia,” University of Catania, Catania, Italy
,
Stefania Salafia
7   Unit of Pediatrics, Lentini Hospital, Lentini, Italy
,
Martino Ruggieri
1   Unit 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
8   Dermatology Clinic, University of Catania, Catania, Italy
,
Giuseppe Micali
8   Dermatology Clinic, University of Catania, Catania, Italy
,
Anna Elisa Verzì
8   Dermatology Clinic, University of Catania, Catania, Italy
,
Jeffrey L. Sugarman
9   Department of Dermatology, University of California San Francisco, Santa Rosa, California, United States
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Publikationsverlauf

19. Januar 2018

21. Mai 2018

Publikationsdatum:
20. August 2018 (online)

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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