Cutaneous lesions associated to multiple endocrine neoplasia syndrome type 1 [PDF]
, 2008 Original article[Abstract] Background Multiple endocrine neoplasia type 1 (MEN1) is a genetic disease that predisposes to endocrine tumour development. Some cutaneous lesions (angiofibromas, collagenomas, melanosis guttaca, lipomas, melanomas, ‘cafe
Cordido, Fernando +4 more
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JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 4, Page 504-513, April 2026.Summary Background and Objectives Deep learning‐convolutional neural networks (DL‐CNNs) have demonstrated high diagnostic accuracy within the domain of dermoscopy. However, many clinical settings lack dermoscopic devices, requiring reliance on close‐up images. This study evaluates the robustness of a DL‐CNN trained on dermoscopic images when challenged
Anastasia Sophie Vollmer +6 more
wiley +1 more source
Angiofibroma en un individuo de época medieval (s. XII-XIII) [PDF]
, 2011 X Congreso Nacional de Paleopatología.
Campillo Valero, D., Garcia Guixé, E.
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Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report [PDF]
, 2018 Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Bottillo, I +7 more
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European Society of Neuroendocrine Tumors (ENETS) 2025 guidance paper for lung and thymic carcinoids
Journal of Neuroendocrinology, Volume 38, Issue 4, April 2026.Abstract This ENETS guidance paper, developed by a multidisciplinary working group, provides up‐to‐date and practical advice on the diagnosis and management of lung and thymic carcinoids, based on recent developments and study results. These recommendations aim to provide practical recommendations for the diagnosis, treatment and follow‐up of these ...
Eric Baudin +12 more
wiley +1 more source
The nasopharyngeal angiofibroma
Clinical Radiology, 1967 Twelve cases of angiofibromata of the nasopharynx are described. Ten patients were adolescent males, 2 were females. The aetiology is discussed but in this series endocrine dysfunction was not obvious. The technique of irradiation used is described and the results presented. Irradiation appears to act by initiating thrombosis and fibrosis in the tumour
openaire +3 more sources
Hallazgos tomográficos y diagnóstico histológico en pacientes con tumores rinossinusales atendidos en el servicio de ORL del Hospital Escuela Antonio Lenin Fonseca Martínez de Septiembre 2013 a Octubre 2014 [PDF]
, 2014 El presente trabajo se realizó en el Hospital Antonio Lenin Fonseca Durante el periodo de septiembre 2013 a octubre 2014. Se trata de un estudio descriptivo de morbi-mortalidad para conocer los hallazgos radiológicos y determinar la concordancia con el ...
Guardado Machado, Raúl Francisco
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Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family
Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.A five generation family with a known pathogenic variant (c.1372C>T; p.Arg458*) in TSC2 displaying a severe renal phenotype characterized by large angiomyolipomas, renal cystic disease, and chronic kidney disease leading to renal failure. Our report illustrates a possible genotype–phenotype and highlights the importance of establishing genotype ...
Elena Tuller +3 more
wiley +1 more source
Facial Nerve Palsy Unusual Complication of Percutaneous Angiography and Emoblization for Juvenile Angiofibroma [PDF]
, 1999 Juvenile angiofibrorna is a locally invasive, vascular and non-encapsulated neoplasm occurring almost exclusively in adolescent males. Although histologically benign, these tumors are highly aggressive and are associated with significant morbidity and ...
Haq, Tanveer UI +3 more
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Impact of prenatal sirolimus on cardiac rhabdomyomas and brain tubers
Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 3, Page 350-359, March 2026.ABSTRACT Objective To document the natural progression of fetal cardiac rhabdomyomas and evaluate the impact of prenatal sirolimus (PNS) on tumor size, cardiac complications and brain‐tuber size. Methods This was a single‐center retrospective cohort study of pregnancies with suspected fetal cardiac rhabdomyoma referred to our center from April 2013 to ...
S. Vergote +6 more
wiley +1 more source