Extensive Plexiform Neurofibroma of the Right Thigh and Pelvis in a Child with Genetically Confirmed Neurofibromatosis Type 1: A Case Report.
Abstract: Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder; plexiform neurofibromas are pathognomonic, and extensive disease may mimic malignancy. An 11-year-old girl had a congenital, gradually progressive, painful hyperpigmented swelling over the right thigh and glut...
| Publicado en: | Journal of Pediatric Neurosciences Vol. 21; no. 2; pp. 183 - 190 |
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| Autores principales: | , , , |
| Formato: | case study diagnostic images pictorial tables/charts Journal Article |
| Publicado: |
Wolters Kluwer India Pvt Ltd
Apr-Jun2026
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=195188580&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 195188580 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 18171745 1KUH jtl: Journal of Pediatric Neurosciences issn: 18171745 maglogo: N pubinfo: dt: Apr-Jun2026 vid: 21 iid: 2 pid: 16919 pub: Wolters Kluwer India Pvt Ltd artinfo: ui: 195188580 195188580 195188580 10.4103/jpn.jpn_152_25 195188580 ppf: 183 ppct: 7 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Extensive Plexiform Neurofibroma of the Right Thigh and Pelvis in a Child with Genetically Confirmed Neurofibromatosis Type 1: A Case Report. aug: au: Kothimira, Vamsi Krishna Nagaram, Punith Patak Balaji, Subhasri Bodagala, Vijayalakshmi Devi affil: Department of Pediatrics, Sri Padmavathi Medical College for Women, SVIMS, Tirupati, Andhra Pradesh, India sug: subj: Neurofibromatosis 1 Diagnosis Neurofibroma Diagnosis Pelvic Neoplasms Genetic Screening Methods Diagnostic Imaging Female Child Magnetic Resonance Imaging Positron-Emission Tomography Ultrasonography Cafe-au-Lait Spots Pathology Vulvar Diseases Etiology Genital Neoplasms, Female Mutation Child: 6-12 years Female ab: Abstract: Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder; plexiform neurofibromas are pathognomonic, and extensive disease may mimic malignancy. An 11-year-old girl had a congenital, gradually progressive, painful hyperpigmented swelling over the right thigh and gluteal region. She had multiple café-au-lait macules, axillary freckling, a large "bag-of-worms" plexiform neurofibroma, clitoromegaly, and Lisch nodules. Contrast-enhanced magnetic resonance imaging showed diffuse infiltrative T2/short tau inversion recovery hyperintense, minimally enhancing soft-tissue thickening involving the right thigh, gluteal region, perineum, and extraperitoneal pelvis, with an elongated lesion posterior to the urinary bladder and clitoral involvement. Whole-body 18 F-fluorodeoxyglucose positron emission tomography–computed tomography demonstrated only low-grade uptake without a hypermetabolic focus. Clinical exome sequencing identified a heterozygous truncating NF1 variant. This rare pelvic and external genital plexiform neurofibroma in a child with NF1 highlights the value of multimodality imaging and genetic confirmation for diagnosis, counseling, and surveillance. Early recognition helps avoid unnecessary biopsy and supports multidisciplinary follow-up planning. pubtype: Academic Journal doctype: case study diagnostic images pictorial tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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