Syndromic sebaceous nevus: current findings

Ezzi, Oumama El; Roessingh, Anthony de Buys; Bigorre, M.; Captier, Guillaume

doi:10.1111/ijd.13942

Cited by 14 publications

(8 citation statements)

References 22 publications

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“…Neurological involvement in NSS is evident in 5–15% of patients [ 8 , 9 ], most frequently being different degrees of intellectual disability, epileptic seizures (especially epileptic spasms), and hemiparesis. Epilepsy occurs in anywhere from 38% to 96% of patients with NSS and neurological involvement [ 10 , 11 , 12 ]. Notably, onset of epilepsy is usually earlier than in other neurocutaneous syndromes, occurring mainly in the first month of life and not later than the first eight months of life [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature

et al. 2021

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The rare nevus sebaceous (NS) syndrome (NSS) includes cortical malformations and drug-resistant epilepsy. Somatic RAS-pathway genetic variants are pathogenetic in NS, but not yet described within the brain of patients with NSS. We report on a 5-year-old boy with mild psychomotor delay. A brown-yellow linear skin lesion suggestive of NS in the left temporo-occipital area was evident at birth. Epileptic spasms presented at aged six months. EEG showed continuous left temporo-occipital epileptiform abnormalities. Brain MRI revealed a similarly located diffuse cortical malformation with temporal pole volume reduction and a small hippocampus. We performed a left temporo-occipital resection with histopathological diagnosis of focal cortical dysplasia type Ia in the occipital region and hippocampal sclerosis type 1. Three years after surgery, he is seizure-and drug-free (Engel class Ia) and showed cognitive improvement. Genetic examination of brain and skin specimens revealed the c.35G > T (p.Gly12Val) KRAS somatic missense mutation. Literature review suggests epilepsy surgery in patients with NSS is highly efficacious, with 73% probability of seizure freedom. The few histological analyses reported evidenced disorganized cortex, occasionally with cytomegalic neurons. This is the first reported association of a KRAS genetic variant with cortical malformations associated with epilepsy, and suggests a possible genetic substrate for hippocampal sclerosis.

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Section: Introductionmentioning

confidence: 99%

The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature

et al. 2021

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“…36,[64][65][66] Major hemispheric malformations predispose patients to neonatal seizures, infantile spasms, and Lennox-Gastaut's syndrome, which, in some cases, can be preceded by Ohtahara's syndrome. 1 According to a British review, 67 more than 50% of patients with epidermal nevi of the NS and keratinocytic types present seizures; other reports of seizures in NS syndrome vary from 38 to 96%, 29,31,[68][69][70] with an earlier onset than in other neurocutaneous syndromes. 70 It has been observed a strict correlation of cognitive impairment and other neurologic features (e.g., monoparesis, hemiparesis, quadriparesis, cranial nerve palsy, deafness, cortical blindness, segmental dysesthesia, hyperactivity) with an early presentation and severity of seizures and the location and extension of brain malformations.…”

Section: Central Nervous System Anomaliesmentioning

confidence: 99%

“…13 Other reviews have reported variable proportions of cognitive delay between 64 and 90%. 29,70,72,73 Gurecki et al found some degree of global impairment in 21 of the 23 patients with sebaceous and keratinocytic nevi: 16 had moderate-to-severe neurologic involvement. However, all their patients were followed up in a neurology department due to neurologic problems than for the cutaneous disease.…”

Section: Central Nervous System Anomaliesmentioning

confidence: 99%

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Nevus Sebaceous Syndrome

et al. 2018

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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.

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“…NSS is a frequent ENS (3)(4)(5) and rated among the phacomatoses not classified elsewhere (International Classification of Diseases, Version 10 (ICD-10): Q85.8). Craniofacial findings are a characteristic of NSS (18,25). However, oral findings in NSS are rarely reported (19,26,27).…”

mentioning

confidence: 99%

Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature Survey

Friedrich

Gosau

Luebke

et al. 2021

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Background/Aim: The aim of this study was to present the long-term course of a patient with nevus sebaceous syndrome (NSS). Recent genetic studies place the syndrome in the emerging group of so-called RASopathies. The focus of the report is on surgical treatment and morphological and genetic findings of the face and oral cavity. Case Report: A female patient was treated for congenital alterations of facial skin and oral mucosa. The oral lesions were removed repeatedly. Eruption of teeth on the lesion sites was made easier by the measures taken. However, after repeated ablation of the affected gingiva, the periodontal papillomatous epithelium redifferentiated into the same reddish, conspicuous, hyperplastic epithelium. The teeth in the affected region showed noticeable changes in position, surface, and shape. A HRAS mutation was detected only in the regions of altered oral epithelia and not in adjacent soft tissues. Conclusion: Reports on NSS rarely address oral manifestations. The recorded alterations of oral soft and hard tissues in NSS indicate a topographical relationship between the development of oral mucosa and teeth as well as the long-lasting impact of a sporadic mutation on organ development at this site.Epidermal nevi (EN) are mosaic cutaneous developmental disorders (1-6). EN are differentiated according to the predominant epithelial cell types (7). The terminology of nevi refers to the histological components of the lesion (8). If extracutaneous findings are noted in addition to EN in an individual, this constellation is referred to as epidermal nevus syndrome (ENS) (1-6, 9-12). Some authors have used the term 'ENS' to describe a distinct entity, in particular (linear) nevus sebaceous syndrome (NSS) (synonymous: Schimmelpenning-Feuerstein-Mims (SFM) syndrome, Naevus sebaceous Jadassohn (syndrome), Solomon syndrome, and further terms) (1-6, 8, 10). Other authors subsumed a group of cutaneous diseases characterized by nevi and extracutaneous findings under the term 'ENS' (1, 10). Currently, the term 'ENS' is mostly used as an umbrella designation for several syndromes describing diseases with a potentially large variety of physical findings that frequently first attract attention through noticeable alterations in superficial skin layers, in particular nevi (3)(4)(5)8). With this broad sense, ENS also includes nevi that have adnexal differentiation (10). 274This article is freely accessible online.

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Syndromic sebaceous nevus: current findings

Cited by 14 publications

References 22 publications

The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature

The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature

Nevus Sebaceous Syndrome

Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature Survey

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