Lip Pits: An Uncommon Clinical and Histologic Finding Associated with Underlying Genodermatoses and Developmental Anomalies

Abstract

We describe the clinical and histologic features of lip pits in a patient with Van der Woude syndrome (VdWS; OMIM 119300), an autosomal dominantly inherited disorder characterized by varying combinations of paramedian lip pits, cleft lip with or without cleft palate, cleft palate alone and/or hypodontia.  VdWS is the most common single-gene cause of cleft lip and cleft palate.  Mutations in the interferon regulatory 6 gene (IRF6) are detectable in over 70% of cases.  Lip pits can be seen in other disorders such as the popliteal pterygium syndrome.  Pits are usually divided into three categories 1) upper lip 2) lower lip and 3) commissural.  Biopsy findings can be subtle and may be overlooked without the provision of relevant historic information.  No treatment is needed for mild cases, however, surgical excision is helpful in more severe cases, both to alleviate discomfort and for cosmetic reasons.