1. Exuberant manifestation of neurofibromatosis type 1 affecting 3 generations: delayed diagnosis and the importance of the multidisciplinary approach
- Author
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Cleverson Teixeira Soares, Ana Regina Casaroto Moreschi, Larissa Maciel, Gustavo Nascimento de Souza Pinto, Elen de Souza Tolentino, and Vanessa Soares Lara
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Delayed Diagnosis ,Neurofibromatosis 1 ,Early detection ,Esthetics, Dental ,Delayed diagnosis ,Pathology and Forensic Medicine ,03 medical and health sciences ,0302 clinical medicine ,Multidisciplinary approach ,Café au lait spot ,medicine ,Humans ,media_common.cataloged_instance ,Radiology, Nuclear Medicine and imaging ,Dentistry (miscellaneous) ,Neurofibromatosis ,Dental surgeon ,media_common ,Neurofibroma ,business.industry ,Cafe-au-Lait Spots ,030206 dentistry ,medicine.disease ,Dermatology ,nervous system diseases ,Chromosome 17 (human) ,030220 oncology & carcinogenesis ,Clinical diagnosis ,Surgery ,Oral Surgery ,medicine.symptom ,business - Abstract
Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disorder caused by mutations of chromosome 17. The NF1 clinical diagnosis is based on pre-established criteria, including the presence of cutaneous neurofibromas, café au lait spots, and iris (Lisch) nodules. Early detection and a multidisciplinary approach are essential for the prevention of complications, including problems of function, aesthetics, and self-esteem, as well as the occurrence of malignant transformation. This study reports a case of an exuberant NF1 manifestation diagnosed by a dental surgeon, whose investigation of a family led to the diagnosis of NF1, with different expressivities, in 3 generations.
- Published
- 2019