Rhinologic manifestations of ectodermal dysplasia.

摘要

BACKGROUND: The Ectodermal Dysplasias (ED) are a group of uncommon genetic disorders characterized by deficient development of tissues derived from ectoderm and mesoderm. Abnormalities of the respiratory epithelium prevent normal mucociliary function. We explored the prevalence and severity of sinonasal features in affected individuals. METHODS: Thirty-four subjects with ED were evaluated. A focused history and thorough nasal examination including flexible nasopharyngoscopy were performed. Patients and caregivers rated the severity of rhinologic symptoms with a standard scale. Standardized smell tests were also performed. RESULTS: The study included 21 males and 13 females whose mean age was 18.8 years (range, 4 months to 85 years). The majority (79%) had Hypohydrotic ED. Nearly half of the individuals evaluated reported moderate to severe nasal obstruction. Allergic symptoms were present in 44% of individuals whereas 41% had a history of sinusitis. Nasal concretions were significantly more troublesomein those aged 15 and under (p = 0.028). Eighteen percent had undergone sinonasal surgery. On examination, normal intranasal structures were identifiable in all patients. However, dry mucosae, prominent crusts, and concretions were found in most (79%). A deviated nasal septum was present in 23% of individuals and a saddle nose deformity in 18. Smell tests were normal for age in all subjects. CONCLUSION: Rhinologic issues are prevalent and problematic in individuals with ED. Management should focus on humidification, nasal debridement, and tailored therapy for allergic rhinitis and sinusitis. Increased awareness of the sinonasal concerns in ED will facilitate diagnosis and improve the care of these patients.