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Article ; Online: [No title information]

García-Martínez, Francisco Javier / Azorín, Daniel / Duat-Rodríguez, Anna / Hernández-Martín, Ángela

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

2021 Volume 19, Issue 1, Page(s) 73–81

Title translation	Angeborene kutane Neurofibrome bei Neurofibromatose Typ 1: Klinisch-pathologische Merkmale in der frühen Kindheit.
Language	German
Publishing date	2021-01-25
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2093479-8
ISSN	1610-0387 ; 1610-0379
ISSN (online)	1610-0387
ISSN	1610-0379
DOI	10.1111/ddg.14322_g
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Article ; Online: Congenital cutaneous neurofibromas in neurofibromatosis type 1: Clinicopathological features in early infancy.

García-Martínez, Francisco Javier / Azorín, Daniel / Duat-Rodríguez, Anna / Hernández-Martín, Ángela

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

2021 Volume 19, Issue 1, Page(s) 73–80

Abstract: Background and objective: Clinicopathological features of cutaneous neurofibromas presenting as large irregularly shaped congenital café-au-lait macules (CALM) in Neurofibromatosis type 1 (NF1) patients have not been well characterized. We aimed to ... ...

Abstract	Background and objective: Clinicopathological features of cutaneous neurofibromas presenting as large irregularly shaped congenital café-au-lait macules (CALM) in Neurofibromatosis type 1 (NF1) patients have not been well characterized. We aimed to analyze the histopathological findings of large "atypical" CALM in children with NF1. Patients and methods: In this retrospective observational study we analyzed histopathological and immunostaining features of 21 biopsy specimens from 18 large hyperpigmented macules with irregular borders with or without hypertrichosis present during the first months of life in NF1 diagnosed children. Results: Of the 21 biopsies, ten showed a diffuse neurofibroma pattern and four exhibited characteristics of plexiform neurofibroma (PNF). In twelve specimens we observed groups of fusiform cells arranged linearly mimicking a small caliber nerve trunk with abnormal morphology. Repeated biopsies from two of these lesions performed at different ages showed transformation to a plexiform pattern. An increased interstitial cellularity was observed in 17 samples that was more evident around eccrine glands in 16 or accompanying hair follicles and vascular structures in twelve samples. All these cells had immunoreactivity for S100-protein, CD68 and were Melan-A positive in 15 samples. Conclusion: Clinicopathological findings of congenital cutaneous neurofibromas provide early diagnostic clues of NF1 with high relevance for monitoring of these patients.
MeSH term(s)	Cafe-au-Lait Spots/diagnosis ; Child ; Humans ; Infant ; Neurofibroma ; Neurofibromatosis 1/diagnosis ; Retrospective Studies ; Skin Neoplasms/diagnosis
Language	English
Publishing date	2021-01-14
Publishing country	Germany
Document type	Journal Article ; Observational Study
ZDB-ID	2093479-8
ISSN	1610-0387 ; 1610-0379
ISSN (online)	1610-0387
ISSN	1610-0379
DOI	10.1111/ddg.14322
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Article ; Online: Cutaneous Manifestations not Considered Diagnostic Criteria for Neurofibromatosis Type 1. A Case-Control Study.

García-Martínez, F J / Duat-Rodríguez, A / Andrés Esteban, E / Torrelo, A / Noguera Morel, L / Hernández-Martín, A

Actas dermo-sifiliograficas

2022 Volume 113, Issue 10, Page(s) 923–929

Abstract: Background: The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which ... ...

Abstract	Background: The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1. Patients and methods: Case-control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included. Results: The prevalence of nevus anemicus (NA) (p<0.001) and juvenile xanthogranulomas (JXG) (p<0.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% [confidence interval (CI): 95.4-99.96%] and a positive predictive value (PPV) of 98.80% [92.54-99.94%] were estimated for NA and a specificity of 99.27% [95.4-99.96%] and a PPV of 92.86% [64.17-99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (p 0.025) and in relation to generalized itching with no other cause (p<0.001). Conclusions: NA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated.
MeSH term(s)	Child ; Humans ; Neurofibromatosis 1/diagnosis ; Neurofibromatosis 1/epidemiology ; Case-Control Studies ; Cafe-au-Lait Spots/epidemiology ; Cafe-au-Lait Spots/etiology ; Cafe-au-Lait Spots/diagnosis ; Pigmentation Disorders ; Xanthogranuloma, Juvenile ; Prevalence ; Inflammation
Language	Spanish
Publishing date	2022-05-27
Publishing country	Spain
Document type	Journal Article
ZDB-ID	390255-9
ISSN	1578-2190 ; 0001-7310 ; 1138-8196
ISSN (online)	1578-2190
ISSN	0001-7310 ; 1138-8196
DOI	10.1016/j.ad.2022.05.014
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Article ; Online: Cutaneous Manifestations not Considered Diagnostic Criteria for Neurofibromatosis Type 1. A Case-Control Study.

García-Martínez, F J / Duat-Rodríguez, A / Andrés Esteban, E / Torrelo, A / Noguera Morel, L / Hernández-Martín, A

Actas dermo-sifiliograficas

2022 Volume 113, Issue 10, Page(s) T923–T929

Title translation	Hallazgos cutáneos no considerados criterios diagnósticos de la NF1. Estudio de casos y controles.
Abstract	Background: The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1. Patients and methods: Case-control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included. Results: The prevalence of nevus anemicus (NA) (P<.001) and juvenile xanthogranulomas (JXG) (P<.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% (confidence interval): 95.4-99.96%] and a positive predictive value (PPV) of 98.80% [92.54-99.94%] were estimated for NA and a specificity of 99.27% [95.4-99.96%] and a PPV of 92.86% [64.17-99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (P=.025) and in relation to generalized itching with no other cause (P<.001). Conclusions: NA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated.
MeSH term(s)	Child ; Humans ; Neurofibromatosis 1/diagnosis ; Neurofibromatosis 1/epidemiology ; Case-Control Studies ; Cafe-au-Lait Spots/diagnosis ; Pigmentation Disorders ; Xanthogranuloma, Juvenile ; Prevalence ; Inflammation
Language	Spanish
Publishing date	2022-09-24
Publishing country	Spain
Document type	Journal Article
ZDB-ID	390255-9
ISSN	1578-2190 ; 0001-7310 ; 1138-8196
ISSN (online)	1578-2190
ISSN	0001-7310 ; 1138-8196
DOI	10.1016/j.ad.2022.09.011
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Article ; Online: ATP1A3-related disorders in the differential diagnosis of acute brainstem and cerebellar dysfunction.

Duat-Rodríguez, Anna / Prochazkova, Michaela / Sebastian, Isabel Perez / Extremera, Veronica Cantarin / Legido, Maria Jimenez / Palero, Serafin Rodriguez / Ortiz Cabrera, Nelmar Valentina

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

2021 Volume 34, Page(s) 105–109

Abstract: Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia-Parkinsonism (RDP), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss) are all caused by mutations in the same gene: ATP1A3. Although ...

Abstract	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia-Parkinsonism (RDP), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss) are all caused by mutations in the same gene: ATP1A3. Although initially they were considered separate disorders, recent evidence suggests a continuous clinical spectrum of ATP1A3-related disorders. At onset all these disorders can present with acute brainstem dysfunction triggered by a febrile illness. An infectious or autoimmune disorder is usually suspected. A genetic disorder is rarely considered in the first acute episode. We present three patients with ATP1A3 mutations: one patient with AHC, one patient with RDP, and one patient with CAPOS syndrome. We describe the acute onset and overlapping clinical features of these three patients with classical phenotypes. These cases highlight ATP1A3-related disorders as a possible cause of acute brainstem dysfunction with normal ancillary testing.
MeSH term(s)	Brain Stem ; Cerebellar Ataxia/diagnosis ; Cerebellar Ataxia/genetics ; Diagnosis, Differential ; Dystonic Disorders/diagnosis ; Humans ; Mutation/genetics ; Sodium-Potassium-Exchanging ATPase/genetics
Chemical Substances	ATP1A3 protein, human ; Sodium-Potassium-Exchanging ATPase (EC 7.2.2.13)
Language	English
Publishing date	2021-08-26
Publishing country	England
Document type	Journal Article
ZDB-ID	1397146-3
ISSN	1532-2130 ; 1090-3798
ISSN (online)	1532-2130
ISSN	1090-3798
DOI	10.1016/j.ejpn.2021.08.005
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Zs.A 4867: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Clinical and Sonographic Classification of Neurofibromas in Children with Neurofibromatosis Type 1 - A Cluster Analysis.

García-Martínez, Francisco Javier / Alfageme, Fernando / Duat-Rodríguez, Anna / Andrés Esteban, Eva María / Hernández-Martín, Angela

Ultraschall in der Medizin (Stuttgart, Germany : 1980)

2021 Volume 44, Issue 2, Page(s) e118–e125

Abstract: Purpose: High-frequency ultrasound allows the accurate identification of neurofibromas in neurofibromatosis type 1 (NF1). This study aimed to analyze the ultrasound features of neurofibromas in children with NF1, to establish a classification based on ... ...

Title translation	Klinische und sonografische Klassifikation von Neurofibromen bei Kindern mit Neurofibromatosis Type 1 – eine Clusteranalyse.
Abstract	Purpose: High-frequency ultrasound allows the accurate identification of neurofibromas in neurofibromatosis type 1 (NF1). This study aimed to analyze the ultrasound features of neurofibromas in children with NF1, to establish a classification based on the clinical and sonographic patterns of the different types of neurofibromas, and to evaluate the interobserver correlation coefficient (κ) of this classification. Materials and methods: In this prospective, single referral center observational study, clinical and ultrasound findings of neurofibromas in children diagnosed with NF 1 were analyzed. To identify the ultrasound patterns, a cluster analysis allowing the inclusion of both clinical and ultrasound data was designed. The κ coefficient was calculated using 9 external evaluators. Results: 265 ultrasound scans were performed on a total of 242 neurofibromas from 108 children diagnosed with NF1. Cluster analysis allowed the identification of 9 patterns (Snedecor's F, P < 0.001) classified as "classic" cutaneous neurofibroma, blue-red neurofibroma, pseudoatrophic neurofibroma, nodular subcutaneous neurofibroma, diffuse subcutaneous neurofibroma, congenital cutaneous neurofibroma, congenital plexiform neurofibroma, congenital diffuse and plexiform neurofibroma, and subfascial neurofibroma. The κ coefficient of the interobserver ratings was 0.82. Conclusion: Patterns identified in the cluster analysis allow neurofibromas to be classified with a very high interobserver correlation.
MeSH term(s)	Child ; Humans ; Neurofibromatosis 1/diagnostic imaging ; Neurofibroma, Plexiform/diagnostic imaging ; Prospective Studies ; Neurofibroma/diagnostic imaging ; Cluster Analysis
Language	English
Publishing date	2021-11-24
Publishing country	Germany
Document type	Observational Study ; Journal Article
ZDB-ID	801064-x
ISSN	1438-8782 ; 1439-0914 ; 1431-4894 ; 0172-4614
ISSN (online)	1438-8782
ISSN	1439-0914 ; 1431-4894 ; 0172-4614
DOI	10.1055/a-1640-9621
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Article ; Online: An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots, Freckling, and Neurofibromas. An Update. Part I. Dermatological Clinical Criteria Diagnostic of the Disease.

Hernández-Martín, A / Duat-Rodríguez, A

Actas dermo-sifiliograficas

2016 Volume 107, Issue 6, Page(s) 454–464

Abstract: Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome and probably the one best known to dermatologists, who are generally the first physicians to suspect its diagnosis. Although the genetic locus of NF1 was identified on chromosome ... ...

Title translation	Neurofibromatosis tipo 1: más que manchas café con leche, efélides y neurofibromas. Parte I. Actualización sobre los criterios dermatológicos diagnósticos de la enfermedad.
Abstract	Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome and probably the one best known to dermatologists, who are generally the first physicians to suspect its diagnosis. Although the genetic locus of NF1 was identified on chromosome 17 in 1987, diagnosis of the disease is still mainly based on clinical observations and the diagnostic criteria of the National Institute of Health, dating from 1988. Cutaneous manifestations are particularly important because café-au-lait spots, freckling on flexural areas, and cutaneous neurofibromas comprise 3 of the 7 clinical diagnostic criteria. However, café-au-lait spots and freckling can also be present in other diseases. These manifestations are therefore not pathognomonic and are insufficient for definitive diagnosis in the early years of life. NF1 is a multisystemic disease associated with a predisposition to cancer. A multidisciplinary follow-up is necessary and dermatologists play an important role.
MeSH term(s)	Cafe-au-Lait Spots/pathology ; Humans ; Neurofibroma/pathology ; Neurofibromatosis 1/pathology ; Skin Neoplasms/pathology
Language	Spanish
Publishing date	2016-07
Publishing country	Spain
Document type	Journal Article ; Review
ZDB-ID	390255-9
ISSN	1578-2190 ; 0001-7310 ; 1138-8196
ISSN (online)	1578-2190
ISSN	0001-7310 ; 1138-8196
DOI	10.1016/j.ad.2016.01.004
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Article ; Online: An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots and Freckling. Part II. Other Skin Manifestations Characteristic of NF1. NF1 and Cancer.

Hernández-Martín, A / Duat-Rodríguez, A

Actas dermo-sifiliograficas

2016 Volume 107, Issue 6, Page(s) 465–473

Abstract: Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome and probably the one best known to dermatologists. Although the genetic locus of NF1 was identified on chromosome 17 in 1987, diagnosis of the disease is still based primarily on ... ...

Title translation	Neurofibromatosis tipo 1: más que manchas café con leche, efélides y neurofibromas. Parte II. Actualización sobre otras manifestaciones cutáneas características de la enfermedad. NF1 y cáncer.
Abstract	Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome and probably the one best known to dermatologists. Although the genetic locus of NF1 was identified on chromosome 17 in 1987, diagnosis of the disease is still based primarily on clinical observations. The 7 diagnostic criteria of the National Institutes of Health, which were established in 1988, include 3 skin manifestations (café-au-lait spots, freckling on flexural areas, and cutaneous neurofibromas). The age at which these diagnostic lesions appear is variable: onset can be late in some patients while others never develop certain symptoms. Definitive diagnosis may therefore be delayed by years. Although the appearance of the characteristic café-au-lait spots and freckling in the early years of childhood are very suggestive of the disease, these signs are not pathognomonic and, in isolation, do not constitute sufficient evidence to establish a definitive diagnosis. Thus, other diagnoses should be considered in patients whose only symptoms are café-au-lait spots and freckling. By contrast, the presence of multiple cutaneous neurofibromas or at least 1 plexiform neurofibroma is a very specific indication of NF1. Identification of the different types of neurofibroma allows us to confirm the diagnosis and initiate appropriate management.
MeSH term(s)	Cafe-au-Lait Spots/pathology ; Humans ; Melanosis/pathology ; Neurofibromatosis 1/pathology ; Skin Neoplasms/pathology
Language	Spanish
Publishing date	2016-07
Publishing country	Spain
Document type	Journal Article ; Review
ZDB-ID	390255-9
ISSN	1578-2190 ; 0001-7310 ; 1138-8196
ISSN (online)	1578-2190
ISSN	0001-7310 ; 1138-8196
DOI	10.1016/j.ad.2016.01.009
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Article ; Online: Cerebral and cerebellar pseudoatrophy associated with valproic acid. Report of three pediatric cases.

Ordoño-Saiz, M V / Púa-Torrejón, R C / Justel-Rodríguez, M / Arias-Vivas, E / Heppe-Montero, M / González-Alguacil, E / Duat-Rodríguez, A / Ruiz-Falcó-Rojas, M L / García-Peñas, J J / Gutiérrez-Delicado, E / Soto-Insuga, V

Revista de neurologia

2023 Volume 77, Issue 8, Page(s) 197–201

Abstract: Introduction: Cerebral and cerebellar pseudoatrophy is a rare adverse effect of valproic acid (VPA) that we need to be aware of, due to its diagnostic and therapeutic implications.: Case report: We report three cases of children between 5 and 9 years ...

Title translation	Pseudoatrofia cerebral y cerebelosa asociada a ácido valproico. Descripción de tres casos pediátricos.
Abstract	Introduction: Cerebral and cerebellar pseudoatrophy is a rare adverse effect of valproic acid (VPA) that we need to be aware of, due to its diagnostic and therapeutic implications. Case report: We report three cases of children between 5 and 9 years old, with epilepsy and previous normal brain magnetic resonance imaging, who were taking the drug at correct doses. Pseudoatrophy manifests subacutely with symptoms and images of cerebral and/or cerebellar atrophy, reversible after drug withdrawal. Discussion and conclusions: This is a type of VPA-related encephalopathy, different from dose-dependent toxic encephalopathy, hyperammonaemic encephalopathy or encephalopathy related to liver failure. In children, it causes cognitive, motor, mood and behavioral deterioration, and may be accompanied by epileptic decompensation. Withdrawing the drug leads to complete clinical-radiological recovery, and reducing the dose leads to improvement.
MeSH term(s)	Humans ; Child ; Child, Preschool ; Valproic Acid/adverse effects ; Epilepsy/drug therapy ; Brain Diseases/chemically induced ; Brain Diseases/diagnosis ; Brain/pathology ; Cerebellum/diagnostic imaging ; Neurotoxicity Syndromes/etiology ; Anticonvulsants/therapeutic use
Chemical Substances	Valproic Acid (614OI1Z5WI) ; Anticonvulsants
Language	Spanish
Publishing date	2023-10-07
Publishing country	Spain
Document type	Case Reports
ZDB-ID	1468278-3
ISSN	1576-6578 ; 0210-0010
ISSN (online)	1576-6578
ISSN	0210-0010
DOI	10.33588/rn.7708.2023186
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Article ; Online: Cutaneous Manifestations not Considered Diagnostic Criteria for Neurofibromatosis Type 1. A Case–Control Study

F.J. García-Martínez / A. Duat-Rodríguez / E. Andrés Esteban / A. Torrelo / L. Noguera Morel / A. Hernández-Martín

Actas Dermo-Sifiliográficas, Vol 113, Iss 10, Pp 923-

2022 Volume 929

Abstract	Background: The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1. Patients and methods: Case–control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included. Results: The prevalence of nevus anemicus (NA) (p < 0.001) and juvenile xanthogranulomas (JXG) (p < 0.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% [confidence interval (CI): 95.4–99.96%] and a positive predictive value (PPV) of 98.80% [92.54–99.94%] were estimated for NA and a specificity of 99.27% [95.4–99.96%] and a PPV of 92.86% [64.17–99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (p 0.025) and in relation to generalized itching with no other cause (p < 0.001). Conclusions: NA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated. Resumen: Antecedentes: El diagnóstico de la neurofibromatosis tipo 1 (NF1) se demora normalmente en niños sin antecedentes familiares. Nuestro objetivo fue definir la prevalencia y características de las manifestaciones cutáneas prevalentes en NF1, en comparación con la población general, que siguen siendo excluidas de los criterios diagnósticos para NF1. Pacientes y métodos: Estudio de casos y controles, pareado por grupos de edad, en el que se incluyeron 108 pacientes diagnosticados de NF1 y 137 controles sanos. Resultados: La prevalencia de nevus anemicus (NA) (p < 0,001) y xantogranuloma juvenil (XJ) (p < 0,001) fue significativamente superior en ...
Keywords	Neurofibromatosis tipo 1 ; Nevus anemicus ; Xantogranuloma juvenil ; fototipo ; Prurito ; Máculas café con leche ; Dermatology ; RL1-803 ; Internal medicine ; RC31-1245
Language	English
Publishing date	2022-11-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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