The Experts below are selected from a list of 270 Experts worldwide ranked by ideXlab platform
Daniel J Michael - One of the best experts on this subject based on the ideXlab platform.
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Sebaceous lesions and their associated syndromes: part II.
Journal of the American Academy of Dermatology, 2009Co-Authors: Daniel B Eisen, Daniel J MichaelAbstract:Sebaceous lesions are associated with two syndromes with widespread multisystem disorders and tumors. Linear Sebaceous Nevus syndrome has been traditionally known as the triad of Sebaceous Nevus of Jadassohn, seizures, and mental retardation. This syndrome encompasses a much broader spectrum of multisystem disorders, which is explored below. Muir-Torre syndrome is described as the presence of Sebaceous tumors or keratoacanthomas with an underlying visceral malignancy. It is caused by mutations in DNA mismatch repair genes. We discuss its relationship with Lynch syndrome and suggest a comprehensive algorithm on how to screen patients with Sebaceous neoplasms for Muire-Torre syndrome. We also provide suggested intensive cancer screening guidelines based on recommendations for patients with Lynch syndrome that may also be of value for patients with Muir-Torre syndrome.
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Sebaceous lesions and their associated syndromes: Part I
Journal of the American Academy of Dermatology, 2009Co-Authors: Daniel B Eisen, Daniel J MichaelAbstract:Sebaceous lesions are associated with two syndromes with widespread multisystem disorders and tumors. Linear Sebaceous Nevus syndrome has been traditionally known as the triad of Sebaceous Nevus of Jadassohn, seizures, and mental retardation. This syndrome encompasses a much broader spectrum of multisystem disorders, which is explored below. Muir–Torre syndrome is described as the presence of Sebaceous tumors or keratoacanthomas with an underlying visceral malignancy. It is caused by mutations in DNA mismatch repair genes. We discuss its relationship with Lynch syndrome and suggest a comprehensive algorithm on how to screen patients with Sebaceous neoplasms for Muire–Torre syndrome. We also provide suggested intensive cancer screening guidelines based on recommendations for patients with Lynch syndrome that may also be of value for patients with Muir–Torre syndrome. Learning objectives After completing this learning activity, participants should be able to discuss the characteristics of Lynch and Muir–Torre syndromes, both of which are associated with Sebaceous lesions, evaluate a patient who might have epidermal Nevus syndrome, formulate an approach to identify patients at risk for Muir–Torre syndrome who have a newly diagnosed Sebaceous neoplasm, and discuss screening recommendations for patients who are identified as having Muir–Torre syndrome.
Daniel B Eisen - One of the best experts on this subject based on the ideXlab platform.
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Sebaceous lesions and their associated syndromes: part II.
Journal of the American Academy of Dermatology, 2009Co-Authors: Daniel B Eisen, Daniel J MichaelAbstract:Sebaceous lesions are associated with two syndromes with widespread multisystem disorders and tumors. Linear Sebaceous Nevus syndrome has been traditionally known as the triad of Sebaceous Nevus of Jadassohn, seizures, and mental retardation. This syndrome encompasses a much broader spectrum of multisystem disorders, which is explored below. Muir-Torre syndrome is described as the presence of Sebaceous tumors or keratoacanthomas with an underlying visceral malignancy. It is caused by mutations in DNA mismatch repair genes. We discuss its relationship with Lynch syndrome and suggest a comprehensive algorithm on how to screen patients with Sebaceous neoplasms for Muire-Torre syndrome. We also provide suggested intensive cancer screening guidelines based on recommendations for patients with Lynch syndrome that may also be of value for patients with Muir-Torre syndrome.
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Sebaceous lesions and their associated syndromes: Part I
Journal of the American Academy of Dermatology, 2009Co-Authors: Daniel B Eisen, Daniel J MichaelAbstract:Sebaceous lesions are associated with two syndromes with widespread multisystem disorders and tumors. Linear Sebaceous Nevus syndrome has been traditionally known as the triad of Sebaceous Nevus of Jadassohn, seizures, and mental retardation. This syndrome encompasses a much broader spectrum of multisystem disorders, which is explored below. Muir–Torre syndrome is described as the presence of Sebaceous tumors or keratoacanthomas with an underlying visceral malignancy. It is caused by mutations in DNA mismatch repair genes. We discuss its relationship with Lynch syndrome and suggest a comprehensive algorithm on how to screen patients with Sebaceous neoplasms for Muire–Torre syndrome. We also provide suggested intensive cancer screening guidelines based on recommendations for patients with Lynch syndrome that may also be of value for patients with Muir–Torre syndrome. Learning objectives After completing this learning activity, participants should be able to discuss the characteristics of Lynch and Muir–Torre syndromes, both of which are associated with Sebaceous lesions, evaluate a patient who might have epidermal Nevus syndrome, formulate an approach to identify patients at risk for Muir–Torre syndrome who have a newly diagnosed Sebaceous neoplasm, and discuss screening recommendations for patients who are identified as having Muir–Torre syndrome.
Kim, Ye Eun - One of the best experts on this subject based on the ideXlab platform.
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Developmental mechanisms of Sebaceous Nevus syndrome caused by dysregulation of RAS/MAPK pathway.
'Libronet Bilgi Hizmetleri ve Yazilim San. Tic. Ltd. Sti.', 2019Co-Authors: Baek, Seung Tae, Kim, Ye EunAbstract:Sebaceous Nevus syndrome is a neuro-cutaneous disorder that shows neurological symptoms such as epilepsy, mental retardation, cerebral defect and ocular abnormality with the skin lesion called Nevus Sebaceous. Recently, it has been reported that Sebaceous Nevus syndrome is caused by somatic mutation of KRAS and HRAS during development. Interestingly, other neurodevelopmental conditions that are associated with genetic mutations in the components of RAS/MAPK pathway also show characteristic neurological symptoms including mental retardation, epilepsy, seizures, and learning disability which may explained by perturbation of RAS/MAPK pathway. We found that the mis-activation of RAS/MAPK pathway resulted in neurological defects associated with Sebaceous Nevus syndrome. Activation of RAS/MAPK pathway by ectopic over-expression of KRAS p.G12V in developing mouse brain caused severe migration defects and abnormal differentiation. To further demonstrate how constitutive activation of KRAS leads these neurodevelopmental defect, we will investigate the relationship between RAS/MAPK pathway and these defects using co-staining with pERK and pharmacological way. We will also identify the disease-related cellular phenotype and characterize the gene expression profile by using human embryonic stem cell-derived neuronal progenitor cells. These data may explain underlying molecular mechanisms of neurodevelopmental defects caused by the mis-regulation of RAS/MAPK pathway.
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Developmental mechanisms of epilepsy in Sebaceous Nevus syndrome caused by dysregulation of RAS/MAPK pathway
한국분자세포생물학회 뇌신경발생분과, 2019Co-Authors: Baek, Seung Tae, Kim, Ye EunAbstract:Sebaceous Nevus syndrome is a neuro-cutaneous disorder that shows neurological symptoms such as epilepsy, mental retardation, and cerebral defect and with the skin lesion called Nevus Sebaceous. Recently, it has been reported that Sebaceous Nevus syndrome is caused by somatic mutation of KRAS and HRAS during development. We found that the mis-activation of RAS/MAPK pathway resulted in neurological defects associated with Sebaceous Nevus syndrome. Activation of RAS/MAPK pathway by ectopic over-expression of KRAS p.G12V in developing mouse brain caused nodular heterotopia and emergence of dysmorphic neuron in adolescence. We also found similar cellular phenotype by using human embryonic stem cell-derived neuronal progenitor cells. Our data indicate that activation of RAS/MAPK pathway in developing excitatory neuron cause cellular aggregation of dysmorphic neurons. We will determine whether the nodular heterotopia is formed by cell autonomous way or non-autonomous way, using double UP vector system. The nodular heterotopia by constitutive activation of KRAS may be connected to epileptogenesis and other neurological defects of patients with RASopathies including Sebaceous Nevus syndrome. Using human embryonic stem cell-derived neuronal progenitor cells, we aim to characterize the gene expression profile that may explain the underlying molecular mechanisms of neurological defects caused by the mis-regulation of RAS/MAPK pathway.
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Developmental mechanisms of Sebaceous Nevus syndrome caused by dysregulation of RAS/MAPK pathway
'Society for Neuroscience', 2018Co-Authors: Baek, Seung Tae, Kim, Ye EunAbstract:Sebaceous Nevus syndrome is a neurocutaneous disorder that shows neurological symptoms such as epilepsy, mental retardation, cerebral defect and ocular abnormality with the skin lesion called Nevus Sebaceous. Recently, it has been reported that Sebaceous Nevus syndrome is caused by somatic mutation of KRAS and HRAS during development. Interestingly, other neurodevelopmental conditions that are associated with genetic mutations in the components of RAS/MAPK pathway also show characteristic neurological symptoms including mental retardation, epilepsy, seizures, and learning disability which may explained by perturbation of RAS/MAPK pathway. We found that the mis-activation of RAS/MAPK pathway resulted in neurological defects associated with Sebaceous Nevus syndrome. Activation of RAS/MAPK pathway by ectopic over-expression of KRAS p.G12D in developing mouse brain caused defective neuronal migration. Using human embryonic stem cell-derived neuronal progenitor cells, we aim to characterize the gene expression profile that may explain the underlying molecular mechanisms of neurological defects caused by the mis-regulation of RAS/MAPK pathway.
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Developmental mechanisms of child epileptic syndrome caused by dysregulation of RAS/MAPK pathway
한국뇌신경과학회, 2018Co-Authors: Baek, Seung Tae, Kim, Ye EunAbstract:Sebaceous Nevus syndrome is a neurocutaneous disorder that shows neurological symptoms such as epilepsy, mental retardation, cerebral defect and ocular abnormality with the skin lesion called Nevus Sebaceous. Recently, it has been reported that Sebaceous Nevus syndrome is caused by somatic mutation of KRAS and HRAS during development. Interestingly, other neurodevelopmental conditions that are associated with genetic mutations in the components of RAS/MAPK pathway also show characteristic neurological symptoms including mental retardation, epilepsy, seizures, and learning disability which may be explained by perturbation of RAS/MAPK pathway. We found that the constitutive activation of KRAS signaling resulted in neurological defects associated with Sebaceous Nevus syndrome. Ectopic over-expression of KRAS p.G12V in developing mouse brain caused defective neuronal migration, reduced proliferation, and neuronal fate change. These neurodevelopmental defects may associated with the developmental pathogenesis of Sebaceous Nevus syndrome by changing specific neuronal population and neuronal projection.
R A Asial - One of the best experts on this subject based on the ideXlab platform.
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phacomatosis pigmentokeratotica another epidermal Nevus syndrome and a distinctive type of twin spotting
European Journal of Dermatology, 2000Co-Authors: Maria Del C Boente, Pizzi N De Parra, Larralde M De Luna, Bibas H Bonet, Santos A Munoz, P Gramajo, Silvia Moreno, V Parra, R A AsialAbstract:The name epidermal Nevus syndrome could be applied to a group of clinically and histopathologically different entities as has been pointed out by Happle. Phacomatosis pigmentokeratotica is a further type of epidermal Nevus syndrome distinguished by the presence of a Sebaceous Nevus and a contralateral speckled lentiginous Nevus of the papular type, associated with skeletal or neurological abnormalities. Three new cases of this recently delineated syndrome are presented. A common origin may account for the temporal and spatial relationship between the epidermal and the speckled lentiginous Nevus. The concept of melanocytic-epidermal twin spotting similar to the interpretation of vascular twin spotting could explain the pathogenesis of this entity.
Patrick Depotter - One of the best experts on this subject based on the ideXlab platform.
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Ocular Manifestations of the Organoid Nevus Syndrome
Ophthalmology, 1997Co-Authors: Jerry A. Shields, Carol L. Shields, Ralph C. Eagle, J. Fernando Arevalo, Patrick DepotterAbstract:Background: The organoid Nevus (Sebaceous Nevus) syndrome is characterized primarily by cutaneous Sebaceous Nevus, seizures, and epibulbar choristomas. Based on ophthalmoscopy and computed tomography (CT), a yellow fundus lesion recently observed in this syndrome has been called a coloboma by some authors or a choroidal osteoma by others. This study was undertaken to review the authors' personal experience with the organoid Nevus syndrome, to review the English language literature on the subject, and to address some misconceptions regarding its ocular manifestations. Methods: The authors reviewed the records of patients with the organoid Nevus syndrome who were personally evaluated by the authors. The ocular findings were studied in more detail, with emphasis on the epibulbar and fundus lesions. Results: The authors identified five patients with the organoid Nevus syndrome. Four had a classic Sebaceous Nevus in the facial and scalp area and two had seizures and arachnoid cysts. All five patients had an epibulbar tumor, which proved to be a complex choristoma in one case that was studied histopathologically. A characteristic ophthalmoscopic feature, observed in the four patients with clear ocular media, was a flat, yellow discoloration of the posterior fundus, of variable size and shape, that appeared to correlate with a dense plaque noted on ultrasonography and CT. In one case, histopathologic studies showed that this posterior lesion contained intrascleral cartilage. Conclusions: The authors' observations and a review of the literature indicated that the organoid Nevus syndrome has varied manifestations. Just like the closely related phakomatoses, it often occurs as a forme fruste, without full expression of the syndrome. The most important ocular manifestations are an epibulbar mass, compatible with a complex choristoma, and focal, yellow discoloration in the fundus, probably related to intrascleral cartilage.