Syndrome PENS (papular epidermal nevus with “skyline” basal cell layer)

Pernet, C.; Muñoz, Jesús Gómez; Bessis, Didier

doi:10.1016/j.annder.2014.09.003

Cited by 6 publications

(4 citation statements)

References 8 publications

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“…Another report of a PENS syndrome, mild neurologic delay, peculiar facies, and bilateral Achilles tendon shortening further widened the phenotype of this syndrome (4). A patient with PENS and an autism spectrum disorder has also been reported (5). One of our patients is consistent with PENS syndrome because of his developmental delay, but the other manifestations (hypospadias and curved penis) have not been previously reported.…”

Section: Torrelo Et Alsupporting

confidence: 53%

“…Five of these developed lesions soon after birth, and in the three remaining cases, the exact age at appearance of the lesions was not mentioned. The number of lesions was variable (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18). Eight patients (42%) had extracutaneous findings, mainly mild developmental or psychomotor delay.…”

Section: Torrelo Et Almentioning

confidence: 99%

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Papular Epidermal Nevus with Skyline Basal Cell Layer (PENS): Three New Cases and Review of the Literature

Luna

Pannizardi

Martín

et al. 2016

Pediatric Dermatology

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Section: Torrelo Et Alsupporting

confidence: 53%

Section: Torrelo Et Almentioning

confidence: 99%

Papular Epidermal Nevus with Skyline Basal Cell Layer (PENS): Three New Cases and Review of the Literature

Luna

Pannizardi

Martín

et al. 2016

Pediatric Dermatology

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“…Untargeted (or called non-targeted) metabolomics aims to comprehensively study the metabolome at the systems level and, therefore, tries to measure all known and unknown metabolites in a given biological sample. Performing untargeted metabolomic experiments can make discoveries that bridge the gaps between gene functions, metabolic activities and biological/physiological phenotype (Fiehn 2002;Pernet et al 2015;Chen et al 2012). The major challenges of this approach rest with the Yuping Cai and Kai Weng have contributed equally.…”

Section: Introductionmentioning

confidence: 97%

An integrated targeted metabolomic platform for high-throughput metabolite profiling and automated data processing

et al. 2015

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Multiple reaction monitoring (MRM)-based targeted metabolomics can simultaneously analyze up to hundreds of metabolites with high-throughput, good reproducibility, and wide dynamic range. However, when hundreds or thousands of MRM transitions are measured with tens to hundreds of biological samples, the complexity of MRM dataset acquired is no longer amenable to manual evaluation, and presents a challenge for targeted metabolomics. Here, we developed an R package, namely MRMAnalyzer, to process large set of MRM-based targeted metabolomics data automatically without any manual intervention. To demonstrate our MRMAnalyzer program, we first developed a targeted metabolomic method that simultaneously analyzes 182 metabolites in one 15-min LC run, and demonstrated the data processing procedures using MRMAnalyzer. The data processing steps include ''pseudo'' accurate m/z transformation, peak detection and alignment, metabolite identification, quality control check and statistical analysis. Finally, a targeted metabolomic assay was designed and integrated with MRMAnalyzer to profile the metabolic changes in Escherichia coli subjected to the protein expression. The generated MRM dataset consisting of more than 8000 MRM transitions were readily processed using MRMAnalyzer within 20 min without any manual intervention. Fourty seven out of 140 detected metabolites, enriched in six metabolic pathways, were found significantly affected in E. coli metabolome. In summary, a targeted metabolomic platform is developed for high-throughput metabolite profiling and automated data processing, and the MRMAnalyzer program is a high efficient informatics tool for large scale targeted metabolomics.

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“…Papular epidermal nevus with “skyline” basal cell layer (PENS) is a recently described keratinocytic nevus . Recently, PENS has been reported in association with extracutaneous involvement, and Tadini and colleagues proposed the term PENS syndrome (PENSS) to indicate a neurocutaneous syndrome characterized by the presence of PENS and different neurologic symptoms that seem to improve during infancy and adolescence . It has been postulated that PENSS occurs more frequently in individuals with more than four PENS lesions .…”

Section: Introductionmentioning

confidence: 99%

Familial papular epidermal nevus with “skyline” basal cell layer and multiple pilomatricomas: A new association?

Rizzoli

Balestri

Rech

et al. 2018

Pediatric Dermatology

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Papular epidermal nevus with "skyline" basal cell layer is a newly described keratinocytic nevus. Recently, papular epidermal nevus with "skyline" basal cell layer has been reported in association with extracutaneous involvement, and the term papular epidermal nevus with "skyline" basal cell layer syndrome is used to indicate a neurocutaneous syndrome characterized by the presence of papular epidermal nevus with "skyline" basal cell layer and different neurologic symptoms that seem to improve during infancy and adolescence. Multiple pilomatricomas have been reported in association with various syndromes. We report herein papular epidermal nevus with "skyline" basal cell layer associated with multiple pilomatricomas in two members of a family with the aim of drawing attention to this peculiar epidermal nevus to improve our knowledge of the syndrome.

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Syndrome PENS (papular epidermal nevus with “skyline” basal cell layer)

Cited by 6 publications

References 8 publications

Papular Epidermal Nevus with Skyline Basal Cell Layer (PENS): Three New Cases and Review of the Literature

Papular Epidermal Nevus with Skyline Basal Cell Layer (PENS): Three New Cases and Review of the Literature

An integrated targeted metabolomic platform for high-throughput metabolite profiling and automated data processing

Familial papular epidermal nevus with “skyline” basal cell layer and multiple pilomatricomas: A new association?

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