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.