Hemimegalencephalic variant of epidermal nevus syndrome: Case report and literature review

Pavlidis, Elena; Cantalupo, Gaetano; Boria, Sonia; Cossu, Giuseppe; Pisani, Francesco

doi:10.1016/j.ejpn.2011.12.004

Cited by 14 publications

(11 citation statements)

References 55 publications

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“…Contrarily, intellectual disability, a finding in up to 70% of SFMS cases (Warrenburg et al, ), was absent in our two SFMS probands. Eye abnormalities can be recognized in ~60% of patients with SMFS and both of our SFMS patients exhibited eye choristoma, which is the most commonly identified ocular anomaly; optic nerve coloboma, a defect observed only in 7% of patients with this syndrome (Arevalo, Lasave, Arevalo, & Shields, ; Paulidis, Cantalupo, Boria, Cossu, & Pisani, ; Shields, Shields, Eagle, Arevalo, & DePotter, ), was also observed in our patients. Bilateral hearing loss, identified in SFMS patient #4, has been previously described unilaterally in a single subject (Gowdar, Nyamagoudar, & Chezhian, ).…”

Section: Discussionsupporting

confidence: 72%

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

Chacón‐Camacho

López-Moreno

Morales‐Sanchez³

et al. 2019

Molec Gen & Gen Med

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Background Postzygotic KRAS , HRAS , NRAS , and FGFR1 mutations result in a group of mosaic RASopathies characterized by related developmental anomalies in eye, skin, heart, and brain. These oculocutaneous disorders include oculoectodermal syndrome (OES) encephalo‐cranio‐cutaneous lipomatosis (ECCL), and Schimmelpenning‐Feuerstein‐Mims syndrome (SFMS). Here, we report the results of the clinical and molecular characterization of a novel cohort of patients with oculocutaneous mosaic RASopathies. Methods Two OES, two ECCL, and two SFMS patients were ascertained in the study. In addition, two subjects with unilateral isolated epibulbar dermoids were also enrolled. Molecular analysis included PCR amplification and Sanger sequencing of KRAS , HRAS , NRAS , and FGFR1 genes in DNA obtained from biopsies (skin/epibulbar dermoids), buccal mucosa, and blood leukocytes. Massive parallel sequencing was employed in two cases with low‐level mosaicism. Results In DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects, FGFR1 p.Asn546Lys and KRAS p.Ala146Val in ECCL patients, and KRAS p.Gly12Asp in both SFMS patients, was demonstrated. No mutations were shown in DNA from conjunctival lesions in two subjects with isolated epibubar dermoids. Conclusion Our study allowed the expansion of the clinical spectrum of mosaic RASopathies and supports that mosaicism for recurrent mutations in KRAS and FGFR1 is a commonly involved mechanism in these rare oculocutaneous anomalies.

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Section: Discussionsupporting

confidence: 72%

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

Chacón‐Camacho

López-Moreno

Morales‐Sanchez³

et al. 2019

Molec Gen & Gen Med

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“…HME is a severe brain malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and a dilated and dysmorphic lateral ventricle. It is often an isolated congenital abnormality, but there are sporadic associations with neurocutaneous and overgrowth syndromes in the literature including with Proteus syndrome, Klippel–Trenaunay syndrome, linear nevus sebaceous (LNS) syndrome, TSC, neurofibromatosis type 1, and hypomelanosis of Ito [Cristaldi et al, ; Sharma et al, ; Pavlidis et al, ]. HME constitutes the most severe brain overgrowth phenotype not only morphologically but also because most children with HME experience early onset intractable epilepsy, typically within the first few months of life.…”

Section: Pi3k‐akt Releated Meg and Hme: The Clinical And Neuroimagingmentioning

confidence: 99%

Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology

Mirzaa¹,

Poduri²

2014

American J of Med Genetics Pt C

107

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Megalencephaly (MEG) is a developmental disorder characterized by brain overgrowth that occurs due to either increased number or size of neurons and glial cells. The former may be due to either increased neuronal proliferation or decreased apoptosis. The degree of brain overgrowth may be extensive, ranging from generalized MEG affecting the entire cortex-as with mutations in PTEN (phosphatase and tensin homolog on chromosome ten)-to unilateral hemispheric malformations-as in classic hemimegalencephaly (HME). On the other hand, some lesions are more focal or segmental. These developmental brain abnormalities may occur in isolation in some individuals, whereas others occur in the context of a syndrome involving dysmorphic features, skin findings, or other organ system involvement. Brain overgrowth disorders are often associated with malformations of cortical development, resulting in increased risk of epilepsy, intellectual disability, and autistic features, and some are associated with hydrocephalus. The past few years have witnessed a dramatic leap in our understanding of the molecular basis of brain overgrowth, particularly the identification of mosaic (or post-zygotic) mutations in core components of key cellular pathways such as the phosphatidylinositol 3-kinase (PI3K)-vakt murine thymoma viral oncogene homolog (AKT)-mTOR pathway. These molecular insights have broadened our view of brain overgrowth disorders that now appear to span a wide spectrum of overlapping phenotypic, neuroimaging, and neuropathologic features and molecular pathogenesis. These molecular advances also bring to light the possibility of pathway-based therapies for these often medically devastating developmental disorders.

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“…[ 5 ] Hemimegalencephaly is the most commonly encountered brain anomaly with higher frequency of epilepsy (94%) and intellectual impairment (73%). [ 6 ] To the best of our knowledge, posterior quadrantic hemimegalencephaly has not been described with SPFMS. We did not find any ocular abnormalities though colobomata, corneal vascularization, cataract, ipsilateral hypoplasia of optic radiation, and epibulbar choristoma are well-described associations.…”

Section: Discussionmentioning

confidence: 99%

Unusual cause of west syndrome

et al. 2017

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Schimmelpenning-Feuerstein-Mims syndrome is a congenital neurocutaneous disorder, comprising of organoid epidermal nevus with a broad spectrum of multiorgan dysfunction (neurologic, skeletal, cardiovascular, ophthalmic, and urologic) secondary to postzygotic mutation in the early embryonic period. Predominant neurological manifestations include epilepsy, intellectual impairment, and focal deficits. Here, we report a 3-year-old girl who presented with epileptic spasms and had a characteristic linear sebaceous nevus. This report not only highlights the importance of early diagnosis of this condition but also emphasizes the need for multiorgan screening in children with seizures and nevi.

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Hemimegalencephalic variant of epidermal nevus syndrome: Case report and literature review

Cited by 14 publications

References 55 publications

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology

Unusual cause of west syndrome

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