Congenital Bilateral Lower Lip Pits Associated with Fistulae of the Minor Salivary Glands: Case Report of the Principal Van Der Woude Syndrome’s Trait

Abstract

Van der Woude syndrome (VWS; OMIM 119300) is an autosomal dominant developmental malformation presenting with bilateral lower lip pits related to cleft lip, cleft palate, and other malformations in about half the patients. These congenital lip pits appear clinically as a defect in the vermilion border of the lip. They are commonly related to fistulae of minor salivary glands with or without excretion. Usually the cause of cosmetic defects, VWS is preferably treated through simple excision. This report aims to describe a case of VWS involving a patient who presented with isolated congenital bilateral lower lip pits related to fistulae of the minor salivary glands, which were treated successfully through simple excision. A 5-year-old girl with a diagnosis of congenital bilateral lip pits associated with fistulae of minor salivary glands was treated successfully through simple excision. The diagnosis was confirmed by clinical examination, sialography, and scintigraphy. A good aesthetic result was observed after 2 years of follow-up evaluation. Physicians must be aware of VWS because, although underreported and frequently not diagnosed, it is the most common cleft syndrome.