Isolated lower lip pits.

Sir,

Lip pits are rare developmental defects that commonly occur on the vermilion border of the lower lip.[1] They can also occur in the upper lip or the oral commissure. Lip pits have been associated with van der Woude syndrome, a rare autosomal-dominant condition typically presented with lower lip pits with or without cleft lip and/or cleft palate.[2] Very few cases of isolated lower lip pits in van der Woude syndrome have been reported in the literature.[3] We present here a rare case of deep isolated lower lip pits in an otherwise healthy child.

A 7-year-old Saudi girl presented to our department for treatment of a deformity in her lower lip, present since birth [Figure 1]. Her medical history was normal, except for speech difficulty. The deformity appears as a bilateral paramedian, “V” shape, and invaginated lesion. On palpation, the lesion was soft and painless. The deformity has not changed throughout her life. Oral examination revealed no cleft lip or palate or any dental anomalies. No similar case has been reported in her family. Based on clinical findings, the diagnosis was made and the patient was scheduled for surgical treatment. The lesion was removed by a wedge excision for aesthetic reasons.

Figure 1

A close-up view of the child's lower lip

The prevalence of van der Woude syndrome is about 1 in 75,000 to 1 in 100,000 births.[1] The definitive gene is not identified yet. However, previous studies have localized van der Woude syndrome to chromosome band 1q32-q41 and 1p34.[2] It appears in 1–2% of all cleft lip or palate cases.[1] In contrast, cleft lip and/or palate occur in 70% of van der Woude syndrome cases. Other findings, including hypodontia, hands syndactyly, clubfoot, genitourinary abnormalities, and cardiovascular anomalies, might rarely appear.[134] The most common associated feature other than cleft lip and palate is hypodontia.[4]

Lower lip pits are very characteristic for van der Woude syndrome, as they appear in almost 88% of these patients. Classically, they appear as two paramedian lesions [Figure 1].[4] The pits are usually found on the vermilion border of the lower lip. The severity of the lip pits may vary as result of several degrees of gene expression. They can present as one or two pits. Their appearance may range from shallow to deep depressions.[4] They are connected to the orbicularis oris muscle through canals formed by these pits.[4] If pits are deep, they can form fistulas that penetrate into accessory salivary glands and drain into tracts, resulting in secretion of saliva from the pits. This could result in an unpleasant appearance and possibly difficulties in speech.

In patients with congenital lip pits, thorough history and physical examination are of great importance because of the associated anomalies. Genetic evaluation and counseling are recommended to the patient and all family members. Surgical excision is the treatment of choice of this lesion. Three different surgical techniques have been described: Simple excision, vertical wedge resection, or inverted-T lip reduction.[5] Although the latter has been shown to be a superior surgical procedure, the other techniques are also effective. The choice may depend on the nature of the deformity.

This report presents a case of isolated congenital deep lip pits in an otherwise healthy patient with no positive family history. We also highlight the importance of recognizing these lesions and the associated anomalies.