The Experts below are selected from a list of 291 Experts worldwide ranked by ideXlab platform
D Bessis - One of the best experts on this subject based on the ideXlab platform.
-
syndrome pens papular epidermal nevus with skyline basal cell layer
Annales De Dermatologie Et De Venereologie, 2015Co-Authors: C Pernet, J Munoz, D BessisAbstract:Resume Introduction Le syndrome PENS est un syndrome neuro-cutane rare et de description recente. Il associe un ou plusieurs hamartomes epidermiques congenitaux de type papular epidermal nevus with �skyline� basal cell layer (PENS) et des anomalies neurologiques non specifiques. Nous en decrivons une observation originale, ou les hamartomes epidermiques sont associes a des troubles du spectre autistique (TSA). Observation Un garcon de 6 ans aux antecedents de TSA severes etait adresse pour deux plaques congenitales pigmentees et asymptomatiques du front et de l�occiput. L�examen clinique montrait une plaque medio-frontale verruqueuse brun-clair en forme de virgule inversee a surface plane et striee constituee de papules polygonales coalescentes, et une plaque occipitale ronde cliniquement similaire. Les biopsies iteratives revelaient la presence d�un epiderme acanthosique surmonte d�une hyperkeratose orthokeratosique avec des cretes epidermiques parfois elargies et une hyperpigmentation basale, permettant de poser le diagnostic anatomo-clinique de syndrome PENS. Discussion Les caracteristiques cliniques et l�analyse histologique des lesions cutanees ont permis de retenir le diagnostic d�hamartome PENS. Ce dernier est defini cliniquement par des papules polygonales coalescentes a surface plane ou rugueuse, une forme arrondie ou en virgule, une couleur brun-clair. Histologiquement, la presence d�une disposition palissadique uniforme des noyaux de la couche basale de l�epiderme en « ligne d�horizon » (skyline) semble pathognomonique mais n�apparait pas constante ni indispensable au diagnostic. L�association d�un hamartome PENS et de troubles neurologiques permet d�individualiser le syndrome PENS comme un nouveau syndrome des hamartomes epidermiques keratinocytaires. Les manifestations neurologiques precoces sont non specifiques, a type de retard psychomoteur, de troubles de l�apprentissage, de dyslexie, d�hyperactivite, de troubles de l�attention et d�epilepsie ; leur gravite est variable. La presence de TSA comme dans notre observation n�a pas ete rapportee jusqu�a present. Conclusion Cette nouvelle observation de syndrome PENS confirme l�autonomisation de ce syndrome neuro-cutane rattache aux syndromes des hamartomes epidermiques keratinocytaires. Summary Background PENS is a rare neuro-cutaneous syndrome that has been recently described. It involves one or more congenital epidermal Hamartomas of the papular epidermal nevus with �skyline� basal cell layer type (PENS) as well as non-specific neurological anomalies. Herein, we describe an original case in which the epidermal Hamartomas are associated with autism spectrum disorder (ASD). Patients and methods A 6-year-old boy with a previous history of severe ASD was referred to us for asymptomatic pigmented congenital plaques on the forehead and occipital region. Clinical examination revealed a light brown verrucous mediofrontal plaque in the form of an inverted comma with a flat striated surface comprising coalescent polygonal papules, and a clinically similar round occipital plaque. Repeated biopsies revealed the presence of acanthotic epidermis covered with orthokeratotic hyperkeratosis with occasionally broadened epidermal crests and basal hyperpigmentation, pointing towards an anatomoclinical diagnosis of PENS. Discussion A diagnosis of PENS Hamartoma was made on the basis of the clinical characteristics and histopathological analysis of the skin lesions. This condition is defined clinically as coalescent polygonal papules with a flat or rough surface, a round or comma-like shape and light brown coloring. Histopathological examination showed the presence of a regular palisade �skyline� arrangement of basal cell epidermal nuclei which, while apparently pathognomonic, is neither a constant feature nor essential for diagnosis. Association of a PENS Hamartoma and neurological disorders allows classification of PENS as a new keratinocytic epidermal Hamartoma syndrome. The early neurological signs, of varying severity, are non-specific and include psychomotor retardation, learning difficulties, dyslexia, hyperactivity, attention deficit disorder and epilepsy. There have been no reports hitherto of the presence of ASD as observed in the case we present. Conclusion This new case report of PENS confirms the autonomous nature of this neuro-cutaneous disorder associated with keratinocytic epidermal Hamartoma syndromes.
-
Syndrome PENS (papular epidermal nevus with “skyline” basal cell layer)
Annales de Dermatologie et de Vénéréologie, 2015Co-Authors: C Pernet, J Munoz, D BessisAbstract:BACKGROUND: PENS is a rare neuro-cutaneous syndrome that has been recently described. It involves one or more congenital epidermal Hamartomas of the papular epidermal nevus with "skyline" basal cell layer type (PENS) as well as non-specific neurological anomalies. Herein, we describe an original case in which the epidermal Hamartomas are associated with autism spectrum disorder (ASD). PATIENTS AND METHODS: A 6-year-old boy with a previous history of severe ASD was referred to us for asymptomatic pigmented congenital plaques on the forehead and occipital region. Clinical examination revealed a light brown verrucous mediofrontal plaque in the form of an inverted comma with a flat striated surface comprising coalescent polygonal papules, and a clinically similar round occipital plaque. Repeated biopsies revealed the presence of acanthotic epidermis covered with orthokeratotic hyperkeratosis with occasionally broadened epidermal crests and basal hyperpigmentation, pointing towards an anatomoclinical diagnosis of PENS. DISCUSSION: A diagnosis of PENS Hamartoma was made on the basis of the clinical characteristics and histopathological analysis of the skin lesions. This condition is defined clinically as coalescent polygonal papules with a flat or rough surface, a round or comma-like shape and light brown coloring. Histopathological examination showed the presence of a regular palisade "skyline" arrangement of basal cell epidermal nuclei which, while apparently pathognomonic, is neither a constant feature nor essential for diagnosis. Association of a PENS Hamartoma and neurological disorders allows classification of PENS as a new keratinocytic epidermal Hamartoma syndrome. The early neurological signs, of varying severity, are non-specific and include psychomotor retardation, learning difficulties, dyslexia, hyperactivity, attention deficit disorder and epilepsy. There have been no reports hitherto of the presence of ASD as observed in the case we present. CONCLUSION: This new case report of PENS confirms the autonomous nature of this neuro-cutaneous disorder associated with keratinocytic epidermal Hamartoma syndromes.
Bayardo Perezordonez - One of the best experts on this subject based on the ideXlab platform.
-
Hamartomas papillomas and adenocarcinomas of the sinonasal tract and nasopharynx
Journal of Clinical Pathology, 2009Co-Authors: Bayardo PerezordonezAbstract:Lesions of the sinonasal tract are uncommon, with most of the specimens seen by surgical pathologists consisting primarily of fragments of inflamed sinonasal mucosa or inflammatory polyps from patients with chronic rhinosinusitis, and the occasional squamous cell carcinoma. Other lesions such as Hamartomas, various types of Schneiderian papillomas and adenocarcinomas are seen only rarely by most histopathologists; therefore a biopsy or surgical resection specimen from a patient with one of these processes may represent a diagnostic challenge. The aim of this review is to present the pathological features of a group of infrequent epithelial surface and glandular lesions of the sinonasal tract which includes respiratory epithelial adenomatoid Hamartoma, glandular (seromucinous) Hamartoma, exophytic papilloma, inverted papilloma, cylindrical cell (oncocytic) papilloma, low-grade sinonasal adenocarcinoma and intestinal-type sinonasal adenocarcinoma.
Runjan Chetty - One of the best experts on this subject based on the ideXlab platform.
-
seromucinous Hamartomas a clinicopathological study of a sinonasal glandular lesion lacking myoepithelial cells
Histopathology, 2009Co-Authors: Ilan Weinreb, Douglas R Gnepp, Nora Laver, Aaron P Hoschar, Jennifer L Hunt, Raja R Seethala, Leon E Barnes, Runjan ChettyAbstract:Aims: To describe seven cases of sinonasal seromucinous Hamartoma. Materials and results: The clinicopathological and immunohistochemical features of seven seromucinous Hamartomas were analysed. There were four men and three women. Six lesions involved the posterior nasal septum and one the lateral wall. Size ranged from 6 to 40 mm. Four patients had no recurrences. One patient had local recurrences 24 and 60 months after diagnosis. The masses were covered by respiratory epithelium. Their stroma was oedematous to fibrous and contained invaginated respiratory epithelium forming glands and cysts, cysts with cuboidal to flat epithelium, and small serous glands, ducts and tubules with lobular and irregular haphazard patterns. One case had numerous glands surrounded by hyalinized basement membrane with features of respiratory epithelial adenomatoid Hamartoma (REAH). One case had focal REAH-like changes. Both respiratory and serous components were positive for cytokeratin (CK) 7 and CK19. The serous component lacked myoepithelial cells when stained for CK14, p63, calponin and muscle-specific antigen in five cases. Conclusions: Seromucinous Hamartomas show a broader histopathological appearance than previously reported. The serous proliferation in these lesions lacks myoepithelial cells. The presence of occasional REAH-like features and common location in the posterior nasal septum suggest a spectrum from pure seromucinous Hamartoma to REAH.
Mery Kato - One of the best experts on this subject based on the ideXlab platform.
-
pontine activation during focal status epilepticus secondary to Hamartoma of the floor of the fourth ventricle
Epilepsy Research, 2006Co-Authors: Octavio M Pontesneto, Lauro Wichertana, Vera C Terrabustamante, Tonicarlo Rodrigues Velasco, Guilherme Bustamante, Regina Maria Franca Fernandes, Paulo Mazzoncini De Azevedomarques, Lucas Ferrari De Oliveira, Antonio Carlos Dos Santos, Mery KatoAbstract:Epileptic seizures associated with Hamartoma of the floor of the fourth ventricle (HFFV) are generally resistant to antiepileptic medication, may evolve into status epilepticus, and can respond favorably to surgical therapy. HFFV are rare, and during the neonatal or infantile period may be associated with repetitive and stereotyped attacks of hemifacial spasm, eye blinking, facial movements, head deviation and dysautonomic manifestations. Similarly, to gelastic seizures provoked by hypothalamic Hamartomas, it has been suggested that these spells arise from within the HFFV, thus constituting a type of non-cortical seizure. We report an infant female patient that developed continuous left hemifacial attacks since she was 2-month-old, and that underwent presurgical investigation when she was 18-month-old. MRI disclosed a left sided HFFV, Video-EEG showed non-localizing and non-lateralizing findings, and SPECT aligned with MRI showed marked hyperperfusion within the Hamartoma, spreading to ipsilateral cerebellar parenchyma and brainstem nuclei. Patient underwent lesionectomy and became seizure-free. We found two evidences on literature supporting the hypothesis of non-cortical seizures related to HFFV. The first, intra-cerebellar recordings surrounding Hamartoma showed electrical activity related to seizures. The second, subtracted SPECT co-registered MRI showed hyperemia within Hamartoma. The present report provides the third additional evidence. We found the involvement not only of the Hamartoma, and pars of cerebellar hemisphere, but also an intense hyperemia involving brainstem nuclei during seizures. We believe that all these findings suggest a short subcortical network responsible for generating seizures in HFFV patients. © 2005 Elsevier B.V. All rights reserved.
C Pernet - One of the best experts on this subject based on the ideXlab platform.
-
syndrome pens papular epidermal nevus with skyline basal cell layer
Annales De Dermatologie Et De Venereologie, 2015Co-Authors: C Pernet, J Munoz, D BessisAbstract:Resume Introduction Le syndrome PENS est un syndrome neuro-cutane rare et de description recente. Il associe un ou plusieurs hamartomes epidermiques congenitaux de type papular epidermal nevus with �skyline� basal cell layer (PENS) et des anomalies neurologiques non specifiques. Nous en decrivons une observation originale, ou les hamartomes epidermiques sont associes a des troubles du spectre autistique (TSA). Observation Un garcon de 6 ans aux antecedents de TSA severes etait adresse pour deux plaques congenitales pigmentees et asymptomatiques du front et de l�occiput. L�examen clinique montrait une plaque medio-frontale verruqueuse brun-clair en forme de virgule inversee a surface plane et striee constituee de papules polygonales coalescentes, et une plaque occipitale ronde cliniquement similaire. Les biopsies iteratives revelaient la presence d�un epiderme acanthosique surmonte d�une hyperkeratose orthokeratosique avec des cretes epidermiques parfois elargies et une hyperpigmentation basale, permettant de poser le diagnostic anatomo-clinique de syndrome PENS. Discussion Les caracteristiques cliniques et l�analyse histologique des lesions cutanees ont permis de retenir le diagnostic d�hamartome PENS. Ce dernier est defini cliniquement par des papules polygonales coalescentes a surface plane ou rugueuse, une forme arrondie ou en virgule, une couleur brun-clair. Histologiquement, la presence d�une disposition palissadique uniforme des noyaux de la couche basale de l�epiderme en « ligne d�horizon » (skyline) semble pathognomonique mais n�apparait pas constante ni indispensable au diagnostic. L�association d�un hamartome PENS et de troubles neurologiques permet d�individualiser le syndrome PENS comme un nouveau syndrome des hamartomes epidermiques keratinocytaires. Les manifestations neurologiques precoces sont non specifiques, a type de retard psychomoteur, de troubles de l�apprentissage, de dyslexie, d�hyperactivite, de troubles de l�attention et d�epilepsie ; leur gravite est variable. La presence de TSA comme dans notre observation n�a pas ete rapportee jusqu�a present. Conclusion Cette nouvelle observation de syndrome PENS confirme l�autonomisation de ce syndrome neuro-cutane rattache aux syndromes des hamartomes epidermiques keratinocytaires. Summary Background PENS is a rare neuro-cutaneous syndrome that has been recently described. It involves one or more congenital epidermal Hamartomas of the papular epidermal nevus with �skyline� basal cell layer type (PENS) as well as non-specific neurological anomalies. Herein, we describe an original case in which the epidermal Hamartomas are associated with autism spectrum disorder (ASD). Patients and methods A 6-year-old boy with a previous history of severe ASD was referred to us for asymptomatic pigmented congenital plaques on the forehead and occipital region. Clinical examination revealed a light brown verrucous mediofrontal plaque in the form of an inverted comma with a flat striated surface comprising coalescent polygonal papules, and a clinically similar round occipital plaque. Repeated biopsies revealed the presence of acanthotic epidermis covered with orthokeratotic hyperkeratosis with occasionally broadened epidermal crests and basal hyperpigmentation, pointing towards an anatomoclinical diagnosis of PENS. Discussion A diagnosis of PENS Hamartoma was made on the basis of the clinical characteristics and histopathological analysis of the skin lesions. This condition is defined clinically as coalescent polygonal papules with a flat or rough surface, a round or comma-like shape and light brown coloring. Histopathological examination showed the presence of a regular palisade �skyline� arrangement of basal cell epidermal nuclei which, while apparently pathognomonic, is neither a constant feature nor essential for diagnosis. Association of a PENS Hamartoma and neurological disorders allows classification of PENS as a new keratinocytic epidermal Hamartoma syndrome. The early neurological signs, of varying severity, are non-specific and include psychomotor retardation, learning difficulties, dyslexia, hyperactivity, attention deficit disorder and epilepsy. There have been no reports hitherto of the presence of ASD as observed in the case we present. Conclusion This new case report of PENS confirms the autonomous nature of this neuro-cutaneous disorder associated with keratinocytic epidermal Hamartoma syndromes.
-
Syndrome PENS (papular epidermal nevus with “skyline” basal cell layer)
Annales de Dermatologie et de Vénéréologie, 2015Co-Authors: C Pernet, J Munoz, D BessisAbstract:BACKGROUND: PENS is a rare neuro-cutaneous syndrome that has been recently described. It involves one or more congenital epidermal Hamartomas of the papular epidermal nevus with "skyline" basal cell layer type (PENS) as well as non-specific neurological anomalies. Herein, we describe an original case in which the epidermal Hamartomas are associated with autism spectrum disorder (ASD). PATIENTS AND METHODS: A 6-year-old boy with a previous history of severe ASD was referred to us for asymptomatic pigmented congenital plaques on the forehead and occipital region. Clinical examination revealed a light brown verrucous mediofrontal plaque in the form of an inverted comma with a flat striated surface comprising coalescent polygonal papules, and a clinically similar round occipital plaque. Repeated biopsies revealed the presence of acanthotic epidermis covered with orthokeratotic hyperkeratosis with occasionally broadened epidermal crests and basal hyperpigmentation, pointing towards an anatomoclinical diagnosis of PENS. DISCUSSION: A diagnosis of PENS Hamartoma was made on the basis of the clinical characteristics and histopathological analysis of the skin lesions. This condition is defined clinically as coalescent polygonal papules with a flat or rough surface, a round or comma-like shape and light brown coloring. Histopathological examination showed the presence of a regular palisade "skyline" arrangement of basal cell epidermal nuclei which, while apparently pathognomonic, is neither a constant feature nor essential for diagnosis. Association of a PENS Hamartoma and neurological disorders allows classification of PENS as a new keratinocytic epidermal Hamartoma syndrome. The early neurological signs, of varying severity, are non-specific and include psychomotor retardation, learning difficulties, dyslexia, hyperactivity, attention deficit disorder and epilepsy. There have been no reports hitherto of the presence of ASD as observed in the case we present. CONCLUSION: This new case report of PENS confirms the autonomous nature of this neuro-cutaneous disorder associated with keratinocytic epidermal Hamartoma syndromes.
