Article
Genetics & Heredity
Daniela Angelova-Toshkina, Johannes Holzapfel, Simon Huber, Mareike Schimmel, Dagmar Wieczorek, Astrid K. Gnekow, Michael C. Fruehwald, Michaela Kuhlen
Summary: In this study, the revised diagnostic criteria for neurofibromatosis type 1 (NF1) were compared with the previous National Institutes of Health (NIH) criteria in a cohort of patients. The results showed that the revised criteria were able to distinguish between NF1, Legius syndrome, and constitutional mismatch repair deficiency (CMMRD) more effectively, and identified more confirmed NF1 patients.
GENETICS IN MEDICINE
(2022)
Article
Pediatrics
Valentina Orlandi, Paolo Cavarzere, Laura Palma, Rossella Gaudino, Franco Antoniazzi
Summary: Central precocious puberty is a condition characterized by early activation of the hypothalamic-pituitary-gonadal axis, which may be due to idiopathic or organic causes, such as syndromes like Neurofibromatosis type 1 (NF1). We presented a case of a girl with Legius syndrome and central precocious puberty, diagnosed through genetic analysis revealing a new variant in the SPRED1 gene. Pediatricians encountering central precocious puberty in children with characteristic cafe-au-lait macules should consider genetic analysis for definitive diagnosis.
ITALIAN JOURNAL OF PEDIATRICS
(2021)
Review
Genetics & Heredity
Hildegard Kehrer-Sawatzki, David N. Cooper
Summary: NF1 is a common genetic disorder with challenging diagnosis primarily based on skin manifestations. Early diagnosis of NF1 faces many challenges, and old diagnostic criteria may not be specific enough.
Article
Genetics & Heredity
Marialetizia Motta, Giulia Fasano, Sina Gredy, Julia Brinkmann, Adeline Alice Bonnard, Pelin Ozlem Simsek-Kiper, Elif Yilmaz Gulec, Leila Essaddam, Gulen Eda Utine, Ingrid Guarnetti Prandi, Martina Venditti, Francesca Pantaleoni, Francesca Clementina Radio, Andrea Ciolfi, Stefania Petrini, Federica Consoli, Cedric Vignal, Denis Hepbasli, Melanie Ullrich, Elke de Boer, Lisenka E. L. M. Vissers, Sami Gritli, Cesare Rossi, Alessandro De Luca, Saayda Ben Becher, Bruce D. Gelb, Bruno Dallapiccola, Antonella Lauri, Giovanni Chillemi, Kai Schuh, Helene Cave, Martin Zenker, Marco Tartaglia
Summary: Loss of function of SPRED2 is causally linked to a recessive phenotype resembling Noonan syndrome, resulting in enhanced signaling. Variants severely affect protein stability and disrupt functional behavior to different extents. This study identifies the second recessive form of Noonan syndrome and highlights the pleiotropic consequences of SPRED2 loss of function in development.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Pediatrics
H. Kehrer-Sawatzki, S. Farschtschi, V-F Mautner
Summary: NF1, one of the most common hereditary tumor predisposition syndromes, has revised diagnostic criteria that enable early and accurate diagnosis with high specificity and sensitivity in young children, facilitating a precise differential diagnostic distinction from disorders with overlapping clinical symptoms.
MONATSSCHRIFT KINDERHEILKUNDE
(2021)
Article
Pediatrics
Eva Pinti, Krisztina Nemeth, Krisztina Staub, Anna Lengyel, Gyorgy Fekete, Iren Haltrich
Summary: NF1-like syndromes have poor diagnostic efficiency in childhood and the utility of clinical diagnostic criteria is limited. Genetic testing is crucial for accurate diagnosis. Early diagnosis can prevent severe complications.
Review
Oncology
Bengisu Ozarslan, Teresa Russo, Giuseppe Argenziano, Claudia Santoro, Vincenzo Piccolo
Summary: Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder with a wide range of clinical manifestations and complications. There is still no specific treatment defined, requiring a multidisciplinary approach for optimal care.
Article
Genetics & Heredity
Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic-Vuksanovic, Rosalie Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, Clemens Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer-Sawatzki, Bruce R. Korf, Victor-Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent Riccardi, Elizabeth Schorry, Miriam J. Smith, Anat Stemmer-Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan M. Huson, Pierre Wolkenstein, D. Gareth Evans
Summary: The study aims to update the diagnostic criteria for neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) by incorporating recent advances in genetics, ophthalmology, neuropathology, and neuroimaging. The updated criteria include clinical features and genetic testing, emphasizing the phenotypic overlap between the two conditions.
GENETICS IN MEDICINE
(2022)
Article
Medicine, General & Internal
Izabella Karska-Basta, Bozena Romanowska-Dixon, Dorota Pojda-Wilczek, Natalia Mackiewicz
Summary: This case report describes a unique case of coexisting pigmentary retinopathy and ocular toxoplasmosis in a young male patient. The fundus findings revealed characteristic pigment deposits and toxoplasmic lesions. Genetic testing showed heterozygosity in RP1 and CELSR1 genes, and the patient was diagnosed with pigmentary retinopathy probably related to toxoplasmosis. Challenges exist in the diagnosis of unilateral pigmentary retinopathy.
MEDICINA-LITHUANIA
(2021)
Article
Surgery
Laura-Nanna Lohkamp, Patricia Parkin, Allan Puran, Ute Katharina Bartels, Eric Bouffet, Uri Tabori, James Thomas Rutka
Summary: The care of children with NF1 and OPG is optimized with a multidisciplinary team approach, coordinated by a central specialty clinic.
FRONTIERS IN SURGERY
(2022)
Article
Dermatology
A. Plana-Pla, B. Garcia, M. Munera-Campos, N. Catasus, E. Serra Arenas, I Blanco, E. Castellanos Perez, I Bielsa
Summary: This study characterized cutaneous lesions in a Spanish cohort of patients with NF2 and investigated associations with clinical and genetic severity. The findings showed that cutaneous lesions, especially plexiform schwannomas, are common in NF2 and usually appear at an early age, providing useful diagnostic and prognostic information.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2022)
Article
Medicine, General & Internal
Filipa Paixao, Luisa Ribeiro, Adriana Costa, Maria Torre, Ana Ventura
Summary: Legius syndrome is a rare disorder that is often misdiagnosed as neurofibromatosis type 1. It is characterized by cafe-au-lait macules without the tumoral manifestations of NF1. We report the case of an 11-year-old patient with Legius syndrome and inflammatory bowel disease. Genetic testing played a pivotal role in confirming the diagnosis.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Medicine, Research & Experimental
Victoria Idowu, Julie Christensen, Andrea M. Gross, Eva Dombi, Jennifer R. Miles, Kelly King, Jennifer Chisholm, Christopher Zalewski, Andrea Baldwin, Patricia Whitcomb, Crystal Burgess, Brigitte C. Widemann, Carmen C. Brewer, Hung Jeffrey Kim
Summary: This study investigated otologic and audiologic manifestations in patients with NF1 and found that the majority of patients had normal hearing sensitivity and middle ear function. However, conductive hearing loss was more common in patients with ear-related plexiform neurofibromas. These findings suggest the importance of addressing hearing concerns and implementing audiological monitoring in NF1 patients.
Article
Oncology
Alejandro Martinez-Roca, Mar Giner-Calabuig, Oscar Murcia, Adela Castillejo, Jose Luis Soto, Anabel Garcia-Heredia, Rodrigo Jover
Summary: Lynch-like syndrome refers to cases of colorectal cancer where epigenetics and genetic mutations play a significant role in its development. This syndrome presents a mixture of characteristics between hereditary and sporadic cases, making it challenging to determine the exact genetic abnormalities involved.
Article
Multidisciplinary Sciences
Well Lennart, Careddu Anna, Stark Maria, Farschtschi Said, Bannas Peter, Adam Gerhard, Mautner Victor-Felix, Salamon Johannes
Summary: The prevalence of spinal abnormalities is higher in NF1 patients than in the control group, with specific abnormalities like scalloping, meningoceles, and neuroforaminal tumors being significantly associated with NF1. These abnormalities are linked to symptoms like back pain and loss of motor function.
SCIENTIFIC REPORTS
(2021)