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Page 1
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.
Kehrer-Sawatzki H, Cooper DN. Kehrer-Sawatzki H, et al. Hum Genet. 2022 Feb;141(2):177-191. doi: 10.1007/s00439-021-02410-z. Epub 2021 Dec 20. Hum Genet. 2022. PMID: 34928431 Free PMC article. Review.
Neurofibromatosis type 1 (NF1) is the most frequent disorder associated with multiple cafe-au-lait macules (CALM) which may either be present at birth or appear during the first year of life. Other NF1-associated features such as skin-fold freckling and Lisch nodules occur …
Neurofibromatosis type 1 (NF1) is the most frequent disorder associated with multiple cafe-au-lait macules (CALM) which may either be presen …
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
Evans DG, Bowers N, Burkitt-Wright E, Miles E, Garg S, Scott-Kitching V, Penman-Splitt M, Dobbie A, Howard E, Ealing J, Vassalo G, Wallace AJ, Newman W; Northern UK NF1 Research Network; Huson SM. Evans DG, et al. EBioMedicine. 2016 May;7:212-20. doi: 10.1016/j.ebiom.2016.04.005. Epub 2016 Apr 13. EBioMedicine. 2016. PMID: 27322474 Free PMC article.
The discovery of SPRED1 as a cause of Legius syndrome which is manifested by CAL, freckling and learning difficulties has introduced substantial heterogeneity to the NIH criteria. ...
The discovery of SPRED1 as a cause of Legius syndrome which is manifested by CAL, freckling and learning difficulties has introduced …
The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease.
Kehrer-Sawatzki H, Bäzner U, Krämer J, Lewerenz J, Pfeiffer C. Kehrer-Sawatzki H, et al. J Dtsch Dermatol Ges. 2022 Mar;20(3):273-277. doi: 10.1111/ddg.14707. Epub 2022 Mar 4. J Dtsch Dermatol Ges. 2022. PMID: 35246941 Review.
In many patients, the diagnosis of NF1 is made clinically based on the presence of cafe-au-lait macules and skinfold freckling, as well as plexiform neurofibromas detectable during early childhood. ...The severe clinical manifestations of patients with NF1 microdeletions r …
In many patients, the diagnosis of NF1 is made clinically based on the presence of cafe-au-lait macules and skinfold freckling, as we …
An Update on Neurofibromatosis Type 1: Not Just Cafe-au-Lait Spots, Freckling, and Neurofibromas. An Update. Part I. Dermatological Clinical Criteria Diagnostic of the Disease.
Hernández-Martín A, Duat-Rodríguez A. Hernández-Martín A, et al. Actas Dermosifiliogr. 2016 Jul-Aug;107(6):454-64. doi: 10.1016/j.ad.2016.01.004. Epub 2016 Mar 12. Actas Dermosifiliogr. 2016. PMID: 26979265 Free article. Review. English, Spanish.
Cutaneous manifestations are particularly important because cafe-au-lait spots, freckling on flexural areas, and cutaneous neurofibromas comprise 3 of the 7 clinical diagnostic criteria. However, cafe-au-lait spots and freckling can also be present in other diseases …
Cutaneous manifestations are particularly important because cafe-au-lait spots, freckling on flexural areas, and cutaneous neurofibro …
Associations of MC1R Genotype and Patient Phenotypes with BRAF and NRAS Mutations in Melanoma.
Thomas NE, Edmiston SN, Kanetsky PA, Busam KJ, Kricker A, Armstrong BK, Cust AE, Anton-Culver H, Gruber SB, Luo L, Orlow I, Reiner AS, Gallagher RP, Zanetti R, Rosso S, Sacchetto L, Dwyer T, Parrish EA, Hao H, Gibbs DC, Frank JS, Ollila DW, Begg CB, Berwick M, Conway K; GEM Study Group. Thomas NE, et al. J Invest Dermatol. 2017 Dec;137(12):2588-2598. doi: 10.1016/j.jid.2017.07.832. Epub 2017 Aug 24. J Invest Dermatol. 2017. PMID: 28842324 Free PMC article.

BRAF(+) were associated with younger age, blond/light brown hair, increased nevi, and less freckling, and NRAS(+) with older age relative to the wild type (BRAF(-)/NRAS(-)) melanomas (all P < 0.05). Comparing specific BRAF subtypes to the wild type, BRAF V600E was assoc

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BRAF(+) were associated with younger age, blond/light brown hair, increased nevi, and less freckling, and NRAS(+) with older age rela …
Towards a neurobiological understanding of pain in neurofibromatosis type 1: mechanisms and implications for treatment.
Bellampalli SS, Khanna R. Bellampalli SS, et al. Pain. 2019 May;160(5):1007-1018. doi: 10.1097/j.pain.0000000000001486. Pain. 2019. PMID: 31009417 Free PMC article. Review.
NF1 patients present with, among other disease complications, cafe au lait patches, skin fold freckling, Lisch nodules, orthopedic complications, cutaneous neurofibromas, malignant peripheral nerve sheath tumors, cognitive impairment, and chronic pain. ...We also highlight …
NF1 patients present with, among other disease complications, cafe au lait patches, skin fold freckling, Lisch nodules, orthopedic co …
Neurofibromatosis 1: clinical manifestations and diagnostic criteria.
Friedman JM. Friedman JM. J Child Neurol. 2002 Aug;17(8):548-54; discussion 571-2, 646-51. doi: 10.1177/088307380201700802. J Child Neurol. 2002. PMID: 12403552 Review.
The most frequent clinical features are cafe-au-lait macules, neurofibromas, intertriginous freckling, Lisch nodules, and learning disabilities, but optic and other gliomas, malignant peripheral nerve sheath tumors, and characteristic osseous lesions also can be present. . …
The most frequent clinical features are cafe-au-lait macules, neurofibromas, intertriginous freckling, Lisch nodules, and learning di …
Management of Peutz-Jeghers Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group.
Latchford A, Cohen S, Auth M, Scaillon M, Viala J, Daniels R, Talbotec C, Attard T, Durno C, Hyer W. Latchford A, et al. J Pediatr Gastroenterol Nutr. 2019 Mar;68(3):442-452. doi: 10.1097/MPG.0000000000002248. J Pediatr Gastroenterol Nutr. 2019. PMID: 30585892 Review.
Peutz-Jeghers syndrome (PJS) is a well-described inherited syndrome, characterized by the development of gastrointestinal polyps, and characteristic mucocutaneous freckling. Development of small bowel intestinal polyps may lead to intussusception in children may require em …
Peutz-Jeghers syndrome (PJS) is a well-described inherited syndrome, characterized by the development of gastrointestinal polyps, and charac …
Cutaneous melanoma: family screening and genetic testing.
Niendorf KB, Tsao H. Niendorf KB, et al. Dermatol Ther. 2006 Jan-Feb;19(1):1-8. doi: 10.1111/j.1529-8019.2005.00050.x. Dermatol Ther. 2006. PMID: 16405564 Review.
Certain heritable traits such as prominent numbers of common and atypical melanocytic nevi, skin type, dense UVR-induced freckling, and hair color are all known to be associated with increased CM risk. ...
Certain heritable traits such as prominent numbers of common and atypical melanocytic nevi, skin type, dense UVR-induced freckling, a …
Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center.
Kocabey M, Özkalaycı H, Çankaya T, Yılmaz Uzman C, Çağlayan AO, Ülgenalp A, Erçal MD. Kocabey M, et al. Int J Dev Neurosci. 2023 Aug;83(5):456-465. doi: 10.1002/jdn.10278. Epub 2023 Jun 6. Int J Dev Neurosci. 2023. PMID: 37280783
The most common feature was cafe au lait macules in 70% of the patients, followed by focal areas of signal intensity on brain imaging (26%), cutaneous neurofibromas (24%) and axillary freckling (24%). CONCLUSIONS: Early sequencing in all suspected patients followed by dele …
The most common feature was cafe au lait macules in 70% of the patients, followed by focal areas of signal intensity on brain imaging (26%), …
29 results