A rare case report of neurofibromatosis type 1 in a 12-year-old child: A 15-month follow-up
| Autor: | V Shiva Kumar Jeenepalli, Srinivas Nallanchakrava, Manoj Kumar Mallela, HM Niharika |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
media_common.quotation_subject 030232 urology & nephrology Case Report Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Café au lait spot Rare case medicine Neurofibroma Girl Neurofibromatosis General Dentistry media_common business.industry Genetic disorder Soft tissue medicine.disease Dermatology medicine.anatomical_structure Otorhinolaryngology 030220 oncology & carcinogenesis Hard palate neurofibroma type 1 medicine.symptom von Recklinghausen disease business Café au lait spots S-100 protein |
| Zdroj: | Journal of Oral and Maxillofacial Pathology : JOMFP |
| ISSN: | 1998-393X 0973-029X |
| Popis: | 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 cafe 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. |
| Databáze: | OpenAIRE |
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