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J Oral Maxillofac Pathol. 2020 Feb;24:S106-S109. doi: 10.4103/jomfp.JOMFP_35_20. Epub 2020 Feb 28.

A rare case report of neurofibromatosis type 1 in a 12-year-old child: A 15-month follow-up.

Journal of oral and maxillofacial pathology : JOMFP

Srinivas Nallanchakrava, Manoj Kumar Mallela, V Shiva Kumar Jeenepalli, H M Niharika

Affiliations

  1. Department of Pedodontics and Preventive Dentistry, Panineeya Institute of Dental Sciences and Research Centre, Hyderabad, Telangana, India.

PMID: 32189916 PMCID: PMC7069136 DOI: 10.4103/jomfp.JOMFP_35_20

Abstract

Neurofibromatosis type 1 (NF-1) or von Recklinghausen's disease is a rare genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas). Head-and-neck neurofibroma is generally located in the soft tissue. Here, we present a case of a 12-year-old girl with NF-1. The disease started in childhood with the appearance of multiple hyperpigmented skin macules. The girl presents generalized freckling and café au lait spots throughout the body and a diffused swelling measuring about 4 cm × 3 cm, extending from the right maxillary hard palate region to the midpalate. The diagnosis of NF-1 was made according to the presence of two or more diagnostic criteria of the National Institute of Health Consensus Development Conference. No recurrence was observed in a 15-month follow-up after extensive surgical ablation.

Copyright: © 2020 Journal of Oral and Maxillofacial Pathology.

Keywords: Café au lait spots; S-100 protein; neurofibroma type 1; von Recklinghausen disease

Conflict of interest statement

There are no conflicts of interest.

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