Neuroimaging manifestations of epidermal nevus syndrome

Vito, Andrea De; Taranath, Ajay; Dahmoush, Hisham; Ganapathy, Shankar Srinivar; Sudhakar, Sniya; Mankad, Kshitij

doi:10.21037/qims-20-634

Cited by 5 publications

(10 citation statements)

References 27 publications

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“…In terms of the genetic basis of ENS, the published evidence suggests that genomic mosaicism is a basic feature of ENS [ 12 ], The genes involved in the pathway include KRAS , HRAS , NRAS , and FGFR1 . FGFR2 and FGFR3 mutations have previously been reported to be involved in some cases [ 6 , 13 ]. In a previous report, the sebaceous nevus was associated with deletions of the PTCH gene [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

“…We further reviewed the current published case report of ESN and discussed the molecular mechanisms. Recent reports of somatic mosaicism in the pathogenesis of epidermal nevus syndrome have been reported, along with the identification of KRAS and HRAS mutations [ 5 , 6 ]. So far, only one study has described the deletion of the PTCH gene in association with sebaceous nevus [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

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Epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction: a case report and review of the literature

Deng

Liu

et al. 2022

J Med Case Reports

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Background Epidermal nevus syndrome is a group of congenital neuroectodermal and/or mesodermal disorders characterized by the epidermal nevi in common association with cerebral, eye, skeletal, cardiovascular, and renal abnormalities. Epidermal nevus syndrome is a rare syndrome, and epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction is even rarer and has not been reported to the best of our knowledge. Case presentation We report the case of a 10-month-old Chinese female patient who presented to our pediatric neurologic department, University of Wenzhou medical teaching Hospital, Hangzhou. She has mobility disorders on the right limbs and recurrent seizures. She had congenital disorder accompanied by brownish-black and verrucose plaques on the right side of the face as well as extensive brownish-black plaques and brown nevi on the right side of the trunk and the right arm. Epidermal nevus syndrome was diagnosed on the basis of her symptoms. Somatic sebaceous nevi and hypoplastic defects of skin, cerebra, eyes, skeleton, and cardiovascular and renal system were observed. However, in addition to the typical clinical characteristics, the patient also has a mutation (c.109G > T) in PTCH1 gene and cerebral infarction. We present a novel case report and literature review. Conclusion To our knowledge, epidermal nevus syndrome with a mutation of PTCH1 gene and cerebral infarction has not been reported previously. This case report may contribute to characterizing the phenotype of epidermal nevus syndrome, help clinicians be aware of the association of this condition with PTCH1 gene and cerebral infarction, raise clinical suspicion, and improve early therapy.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction: a case report and review of the literature

Deng

Liu

et al. 2022

J Med Case Reports

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“…Although the yield may be low, brain imaging should be considered in children with epidermal nevi of the head and neck. 9 Genetic testing may be helpful in identifying the underlying cause.…”

Section: Discussionmentioning

confidence: 99%

“…Close follow‐up for all children with nevus sebaceus is recommended to monitor for changes indicative of malignancy. Seizures may be of variable type and are often difficult to control with conventional antiepileptic medications and surgical interventions might be required to relieve seizures burden and improve functional outcomes 9 …”

Section: Discussionmentioning

confidence: 99%

“…Clinicians should undertake a thorough physical examination focused on assessing for neurologic, ophthalmologic, and skeletal abnormalities, which may warrant further laboratory monitoring and imaging evaluation. Although the yield may be low, brain imaging should be considered in children with epidermal nevi of the head and neck 9 . Genetic testing may be helpful in identifying the underlying cause.…”

Section: Discussionmentioning

confidence: 99%

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Congenital verrucous plaques

Leszczynska

Schiele

Cervantes

et al. 2021

Pediatric Dermatology

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Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations

Chen

Sun

Gao

et al. 2023

Orphanet J Rare Dis

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Background Facial infiltrating lipomatosis (FIL) is a rare congenital disorder characterized by unilateral facial swelling, for which surgery is the prevailing therapeutic option. Several studies have shown that the development of FIL is closely associated with PIK3CA mutations. This study aimed to further identify rare clinical features and underlying molecular variants in patients with FIL. Results Eighteen patients were included in this study, and all patients presented with infiltrating adipose tissues confirmed by magnetic resonance imaging. Macrodactyly, polydactyly, hemimegalencephaly and hemihyperplasia were also observed in patients with FIL. In total, eight different PIK3CA mutations were detected in tissues obtained from sixteen patients, including the missense mutations p.His1047Arg (n = 4), p.Cys420Arg (n = 2), p.Glu453Lys (n = 2), p.Glu542Lys (n = 2), p.Glu418Lys (n = 1), p.Glu545Lys (n = 1), and p.His1047Tyr (n = 1) and the deletion mutation p.Glu110del (n = 3). Furthermore, the GNAQ mutation p.Arg183Gln was detected in the epidermal nevus tissue of one patient. Imaging revealed that several patients carrying hotspot mutations had more severe adipose infiltration and skeletal deformities. Conclusions The abundant clinical presentations and genetic profiles of FIL make it difficult to treat. PIK3CA mutations drive the pathogenesis of FIL, and PIK3CA hotspot mutations may lead to more extensive infiltration of lipomatosis. Understanding the molecular variant profile of FIL will facilitate the application of novel PI3K-targeted inhibitors.

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Neuroimaging manifestations of epidermal nevus syndrome

Cited by 5 publications

References 27 publications

Epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction: a case report and review of the literature

Epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction: a case report and review of the literature

Congenital verrucous plaques

Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations

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