Congenital Lower Lip Pits (Van der Woude Syndrome): Presentation of 10 Cases

Abstract

Congenital lower lip pits are a rare developmental malformation of the lower lip. Clinically they present as bilateral depressions in the vermilion zone of the lower lip. It is important to be aware of this disorder because lower lip pits have also been reported in a variety of other congenital disorders and are associated with other malformations. Ten cases of this entity are presented. Nine of the 10 patients are members of two related families. The clinical and pathologic picture as well as some of the genetic and therapeutic aspects of this peculiar condition are discussed.Congenital fistulas of the lower lip are congenital malformations that were first described by Demarquay in 1845 (1). This entity is also known under the eponym "Van der Woude syndrome" because the more recent extensive description by Van der Woude in 1954 (2). Their clinical relevance is based on their frequent association with cleft lip and cleft palate, and less commonly with other congenital anomalies. A series of 10 patients is presented, 9 of whom were members of two related families. The remaining patient had no affected relatives. CASE REPORTS Patient 1A 2-year-old boy had bilateral depressions on both sides of the midline of the lower lip present since birth. The lesions were asymptomatic. His parents reported no secretions from the pit. Physical examination revealed no other anomalies of the oral cavity, periauricular region, or rest of the body. Pregnancy and delivery had been uneventful. No first-or second-generation relatives exhibited similar lesions. Patient 2A 20-year-old woman presented with dryness and fissures affecting the lower lip. The patient ascribed these lesions to sporadic watery secretions from the base of a pair of bilateral labial pits present since birth (Fig. 1). On examination, a stylet could be advanced several millimeters into the pits, and compression of the margins produced a saliva-like secretion. The lesions were excised, and the histologic study revealed an invagination that progressively thinned toward the base (Fig. 2). The lining consisted of stratified epithelium similar to the epithelium lining the lips. Intracellular edema and abundant clear and vacuolated cells were observed. Patients 3-10A family study showed the presence of identical lesions in a younger male sibling of patient 2, their maternal aunt, and five of her living offspring. Three of these offspring moreover had a cleft palate, while one had both a cleft palate and cleft lip (Figs. 3 and 4).

Cognitive dysfunction in adults with Van der Woude syndrome

“…Cognitive abnormalities in ICLP have been hypothesized to be "secondary" to factors such as hearing and/or speech deficits or even to the social effects of facial disfigurement. 23,24 However, work from our group (see below) and others 25,26 is mounting evidence to support the theory that the brain structure/function abnormalities in orofacial clefting disorders are in fact a primary brain problem due to aberrant neural development. From a series of studies on adult males with ICLP, our laboratory has reported an increased incidence of developmental brain anomalies 27 and a structural brain pattern of abnormally increased volumes of the anterior cerebrum (frontal and parietal lobes) with accompanying reduction in volumes of the posterior cerebrum (temporal and occipital lobes) and cerebellum.…”

Unusual and recently described cutaneous atrophic disorders

“…The lower lip is often enlarged, and the size of the pits is variable 19 . Other abnormalities may be present, including cleft palate, cleft lip, genitourinary malformations, cardiovascular anomalies, skeletal dysplasias, and gastrointestinal abnormalities 20–23 …”

Van Der Woude Syndrome with Ectodermal Dysplasia- Case Report

“…Lip pits are classified into three types based on location: commissural, midline upper lip, and lower lip (Nagore et al 1998) [1]. Lower lip pits are congenital malformation that was originally described by Demarquay, 1845 (cited by Van der Woude).…”