Congenital Lip Pits - Associated Conditions, Features, and Management

Introduction:

Congenital lip pits that are disfiguring and aesthetically a concern for the affected individuals and thier dear ones. Congenital lip pits are lesions that appear mostly on the vermilion border of the lip. These lesions are genetic in origin and would clinically manifest with or without salivary secretions. Often the common findings are deep lip pits forming tracts, and salivary secretions oozing or dripping from these lip pits. Any individual who congenitally suffers from these lip pit formations would be termed a sufferer of lip pit syndrome. These pits are mostly found associated with congenital syndromes or developmental anomalies.

What Are the Congenital Syndromes Associated With Lip Pits?

The lip pits are commonly associated with Van der Woude syndrome. Lip pit formation though stemming from a rare autosomal dominant condition, congenitally linked disorders have a global incidence of about 1 in 75,000 to 1 in 100,000. These can occur without any gender predilection as such.

The Van der Woude syndrome is one of the rare and autosomally dominant conditions associated with development malformations. This syndrome is the one that is implicated very often in the formation of lip pits. The characteristic feature of this syndrome is that the paramedian lip pits or sinuses are involved or there may be a rather conical-shaped elevation of the lower lip in affected individuals.

Congenital lip pits have also been linked or related to other developmental anomalies which include the following:

• Hypodontia.

• Syngnathia.

• Syndactyly.

• Talipes equinovarus.

• Polythelia.

• Popliteal pterygium syndrome.

• Kabuki makeup syndrome.

• Oral facial digital syndrome.

• Mental retardation.

• Ankyloblepharon.

• Uvula Bifida.

• Chronic otitis media.

• Other developmental anomalies of the extremities, sternum, or cardiac muscles.

• Cleft lip and cleft palate.

What Are the Clinical Features and Complications of Congenital Lip Pits?

The severity of these congenitally occurring lip pits would definitely vary as per individual occurances. This is because the lip pits are formed mainly as a result of altered degrees or errors in gene expression. Hence, based on the gene expression errors, lip pits can manifest clinically in affected individuals as either one or two pits. The appearance of lip pits may range from very shallow depression on the lip usually the lower lip or it may appear as a deep depression inside the lip. Oral physicians or dentists may observe this clinically. In fact, these pits are actually interconnected to the orbicularis oris muscle of the face through the canals made by the pit formation in the lips.

The clinical complication would be further aggravated in these individuals who are suffering from lip pits especially when they are deep. Deep pits then have the potential to form fistulas in the orofacial regions. These fistula tracts not only may penetrate into accessory salivary glands, but may also alter the normal drainage of salivary secretions into their tracts. Clinically this complication can be seen when the patient complains further of salivary secretions occurring through the lip pits.

How Can Lip Pits Be Managed?

Physicians and dentists usually elicit a thorough family history in individuals suffering from congenital lip pits. Genetic evaluation in fact would be necessary to determine the cause and nature of these moderate to deep lesions that may have life-long consequences in those affected. The appropriate treatment plan, including whether surgical intervention is necessary, can be determined by the dentist or maxillofacial surgeon after a detailed physical examination.

Surgical excision is the primary treatment of choice for the lip pit lesion.

Indications for surgical interventions are; for any of the congenital lip pits that are especially cosmetically disfiguring upon the patient's face and also those lesions that exhibit a recurring tendency for inflammation or reappearance. Three main but different surgical approaches would be adopted by the maxillofacial surgeon or dentist. These are

1. The simple excision technique.
2. The vertical wedge resection technique.
3. The inverted-T lip reduction technique.

The inverted-T lip reduction technique is the most popular out of the three adopted to eliminate the lip pits completely. The choice of surgical technique definitely depends on the operator's decision depending on the deformity's nature and how deep and facially involving the lip pits are.

Patients who suffer from lip pits may face self-embarrassment or feelings of psychosocial stigma because of the unpleasant appearance and secretory nature of the pits on the lips. This may also interfere with the speech which may lead to emotional stress in many individuals. Apart from oral or facial surgical management, most patients should also receive counselling and motivation towards building self-confidence. And the family members should be counseled too, to encourage or motivate the patient as this holds great importance to the mental well-being of affected patients.

What Are the Complications Associated With Surgery?

There may definitely be certain clinical difficulties that are challenging to the oral surgeon while completely excising the lip pits associated with the sinus. For example, recurrent mucocele formation after excision is the most common complication encountered by the dentist or maxillofacial surgeon. During surgery, it is crucial to completely and meticulously eliminate or remove all of the minor salivary glands that would be draining into the lip tracts in most cases.

Conclusions:

Dental surgeons and family members of the affected individuals should not only be aware of the genetic nature of this rare syndrome, but should also support and provide motivation or encouragement to the patient. This can aid in better healing and prognosis post-surgery also. For the oral surgeon, the focus is on genetic counseling when it is needed and most importantly on the meticulous surgical excision of the pits to prevent recurrence rates of these pits or other infectious lesions in the lips.