Congenital arrhinia: A case report and literature review

Introduction Underdevelopment of the nose is a wide spectrum entity ranges from partial absence of the nose to congenital arrhinia (CA). CA is the congenital absence of the external nose, nasal cavities, and/or nasal nostrils±olfactory apparatus, and is an extremely rare entity as less than 50 cases reported in the literature. CA can be isolated and idiopathic in origin or be a part of genetic-linked certain syndromes. Of note, the isolated CA can be inherited as an autosomal dominant condition with incomplete penetrance. Presentation of case We report a 13-month-old Palestinian female patient with isolated CA complicated with recurrent lower and upper respiratory tract infections (URTI). The family history is significant for the mother with incomplete and uncomplicated underdevelopment of the external nose and nasal nostrils. The patient uses a tracheostomy to breathe and is waiting for the optimal age for surgical correction. In addition, we reviewed the available literature using PubMed and summarized all CA cases reported from 2016 to 2019 since two studies had presented the literature before 2016, and presented them in a very comprehensive table. Discussion CA is largely idiopathic and not well understood. Although CA can be inherited and runs in families with incomplete penetrance, no causative genetic abnormalities had been found in most of the reported cases. CA frequently presents with upper airway obstruction and respiratory distress, recurrent lower and URTI, and feeding difficulties. CA is managed initially with tracheostomy and should be followed by a surgical correction at the appropriate age. Conclusion CA may be sporadic, familial, or a part of a syndrome. CA carries a significant rate of morbidity and mortality and a tracheostomy should be inserted initially to alleviate the early CA complications and followed by surgical reconstruction when the patient reaches the age of preschool/school age. More studies are required to determine CA inheritance.