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Is neurofibromatosis type 1 diagnosed in every patient who presents with café au lait macules? A single-center experience

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dc.contributor.authorEKER, NURŞAH
dc.contributor.authorTOKUÇ, AYŞE GÜLNUR
dc.contributor.authorsEKER N., TOKUÇ A. G., Tas Tufan B., Senay E.
dc.date.accessioned2023-07-05T08:09:08Z
dc.date.available2023-07-05T08:09:08Z
dc.date.issued2023-01-01
dc.description.abstractObjective: Neurofibromatosis type 1 (NF1) is the most common hereditary neurocutaneous syndrome. The most crucial morbidity of NF1 is tumors that may develop. Cases with café-au-lait macules (CALMs) which is the first clinical finding of NF1, due to the anxiety of its associated morbidity, are referred to the pediatric oncology clinic. In this study, we aimed to examine the characteristics of the patients who applied to our outpatient clinic with CALMs. Patients and Methods: The data of 157 pediatric patients who applied to our institution with the diagnosis of CALMs between June 2010 and November 2020 were analyzed retrospectively. Results: There were 157 pediatric cases referred to us for CALMs. According to the National Institutes of Health (NIH) diagnostic criteria, 109 (69.4%) cases were diagnosed with NF1. The diagnosis of 22 cases with NF1 were supported by genetic examination. Optic glioma was detected in 39 (24.8%) cases. In 15 (38.4%) of cases with optic glioma, visual functions were also affected. Second diagnostic criterion did not develop during the follow-up period, except for macules, in 48 cases (30.5%). Conclusion: In cases with multiple CALMs, the probability of NF1 diagnosis is high, and close and regular follow-up is of great importance in catching the development of the second clinical criterion and minimizing its morbidity.
dc.identifier.citationEKER N., TOKUÇ A. G., Tas Tufan B., Senay E., "Is neurofibromatosis type 1 diagnosed in every patient who presents with café au lait macules? A single-center experience", Marmara Medical Journal, cilt.36, sa.2, ss.192-196, 2023
dc.identifier.doi10.5472/marumj.1302264
dc.identifier.endpage196
dc.identifier.issn1019-1941
dc.identifier.issue2
dc.identifier.startpage192
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85161707436&origin=inward
dc.identifier.urihttps://hdl.handle.net/11424/290779
dc.identifier.volume36
dc.language.isoeng
dc.relation.ispartofMarmara Medical Journal
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectTemel Tıp Bilimleri
dc.subjectMedicine
dc.subjectHealth Sciences
dc.subjectFundamental Medical Sciences
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectTIP, GENEL & DAHİLİ
dc.subjectClinical Medicine (MED)
dc.subjectCLINICAL MEDICINE
dc.subjectMEDICINE, GENERAL & INTERNAL
dc.subjectGenel Tıp
dc.subjectGeneral Medicine
dc.subjectCafé-au-lait macule
dc.subjectChildren
dc.subjectNeurofibromatosis
dc.subjectTumor
dc.subjectCafé-au-lait macule
dc.subjectNeurofibromatosis
dc.subjectChildren
dc.subjectTumor
dc.titleIs neurofibromatosis type 1 diagnosed in every patient who presents with café au lait macules? A single-center experience
dc.typearticle
dspace.entity.typePublication
local.avesis.id6e35710b-c6b0-4628-bfbc-54c211465008
local.indexed.atSCOPUS
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relation.isAuthorOfPublicationcd4d609a-463e-4935-98f8-24be74de5650
relation.isAuthorOfPublication.latestForDiscoveryb0dcbad5-0a5b-45e3-bbe6-cff3cf372f1f

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