Vocal Tract Abnormalities in Patients with Two Genodermatoses: Lipoid Proteinosis and Neurofibromatosis Type 1
ElDessouky, H., Osman, D., Gadelhak, M., Mehrez, M., Afifi, H., El Kammah, G., Sheikhany, A. (2023). Vocal Tract Abnormalities in Patients with Two Genodermatoses: Lipoid Proteinosis and Neurofibromatosis Type 1. EKB Journal Management System, 24(24), 1-8. doi: 10.21608/ejentas.2023.223967.1657
Hossam Mohamed ElDessouky; Dalia Mostafa Osman; Mohamed Gadelhak; Mennat Mehrez; Hanan Afifi; Ghada El Kammah; Aya Sheikhany. "Vocal Tract Abnormalities in Patients with Two Genodermatoses: Lipoid Proteinosis and Neurofibromatosis Type 1". EKB Journal Management System, 24, 24, 2023, 1-8. doi: 10.21608/ejentas.2023.223967.1657
ElDessouky, H., Osman, D., Gadelhak, M., Mehrez, M., Afifi, H., El Kammah, G., Sheikhany, A. (2023). 'Vocal Tract Abnormalities in Patients with Two Genodermatoses: Lipoid Proteinosis and Neurofibromatosis Type 1', EKB Journal Management System, 24(24), pp. 1-8. doi: 10.21608/ejentas.2023.223967.1657
ElDessouky, H., Osman, D., Gadelhak, M., Mehrez, M., Afifi, H., El Kammah, G., Sheikhany, A. Vocal Tract Abnormalities in Patients with Two Genodermatoses: Lipoid Proteinosis and Neurofibromatosis Type 1. EKB Journal Management System, 2023; 24(24): 1-8. doi: 10.21608/ejentas.2023.223967.1657

Vocal Tract Abnormalities in Patients with Two Genodermatoses: Lipoid Proteinosis and Neurofibromatosis Type 1

Egyptian Journal of Ear, Nose, Throat and Allied Sciences
Article 48, Volume 24, Issue 24, January 2023, Page 1-8  XML PDF (514.78 K)
Document Type: Original Article
DOI: 10.21608/ejentas.2023.223967.1657
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Authors
Hossam Mohamed ElDessouky1; Dalia Mostafa Osman2; Mohamed Gadelhak email orcid 3; Mennat Mehrez4; Hanan Afifi3; Ghada El Kammah3; Aya Sheikhany5
1ENT, Faculty of medicine, Cairo university
2Phoniatric Unit, ENT department, Cairo University
3Department of Clinical Genetics - Human Genetics and Genome Research Institute - National Research Center
4Department of Oro-dental genetics - Human Genetics and Genome Research Institute - National Research Center
5Cairo University
Abstract
Objectives: We aimed to investigate the abnormalities of the oral cavity, pharynx, and larynx of patients with two Genodermatoses: lipoid proteinosis (LP) and Neurofibromatosis type 1 (NF1)
Study Design: Cross-sectional study.
Patients and Methods: Twenty-five patients with genodermatoses were recruited from the Genodermatoses clinic, NRC, eighteen cases with NF1 and seven cases with LP, where precise cutaneous and oro-dental examinations were done for all patients followed by Naso-pharyngo-laryngeoscopic examination done in the phoniatric unit, faculty of medicine, Cairo university.
Results: Oral, pharyngeal, and laryngeal abnormalities were detected in twenty-three, twenty, and seventeen patients respectively. Malocclusion was the main oro-dental abnormality in patients with NF1, while in patients with LP lingual and labial abnormalities were the most common oro-dental abnormalities. Reddish and white-yellowish oropharyngeal swellings were the chief pharyngeal abnormality in patients with NF1 and LP respectively. Congested and thick hypertrophic laryngeal structures are the main laryngeal abnormalities in patients with NF1 and LP respectively. Vocal fold paralysis is not uncommon finding in patients with NF1.
Conclusion: Oral, pharyngeal, and laryngeal abnormalities are very common in NF1 and LP. Precise Oro-dental examination and Naso-pharyngo-laryngeoscopic evaluation are recommended for all patients with genodermatoses, especially NF1 and LP. Periodic follow-up by a multidisciplinary team is essential to detect any newly developed lesions or changes in current detected lesions.
Keywords
Cutaneous manifestations; laryngeal abnormalities; lipoid proteinosis; neurofibromatosis type1; Oral abnormalities; pharyngeal abnormalities
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