Archives of Medicine and Health Sciences

: 2015  |  Volume : 3  |  Issue : 2  |  Page : 279--281

Nonsyndromic congenital lip pits: A rare entity

Vela D Desai1, Swati Phore1, Sunilkumar Mothikhane Vardhamanaiha2,  
1 Department of Oral Medicine and Radiology, Jaipur Dental College, Jaipur, Rajasthan, India
2 Department of Prosthodontics, Jaipur Dental College, Jaipur, Rajasthan, India

Correspondence Address:
Vela D Desai
B: 406, Trimurthy Apartments, Opposite BSNL Telecom Colony, Malviya Nagar, Jaipur - 302 017, Rajasthan


Lip pits are rare congenital anomalies that are recorded on the upper lip, lower lip or the oral commissures. Recognition of this entity is important because of their association with other multiple anomalies. Proper evaluation and treatment of these associated abnormalities and genetic counseling is of utmost importance. Herewith, a rare case of isolated congenital lower lip pits is reported with a brief review of the literature.

How to cite this article:
Desai VD, Phore S, Vardhamanaiha SM. Nonsyndromic congenital lip pits: A rare entity.Arch Med Health Sci 2015;3:279-281

How to cite this URL:
Desai VD, Phore S, Vardhamanaiha SM. Nonsyndromic congenital lip pits: A rare entity. Arch Med Health Sci [serial online] 2015 [cited 2022 Sep 28 ];3:279-281
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Full Text


Lip pits are autosomal dominant trait involving the paramedial portion of the vermilion of the lip that are presented more commonly in females. [1] The first case of lip pits was reported by Demarquay in 1845 cited by Cervenka J et al. [2] Pits of the lower lip are also known as fistulas of the lower lip, paramedian sinuses of the lower lip, humps of the lower lip and labial cysts.

Most of the cases have been linked to chromosome 1q32-q41. [3] However, a second locus has been mapped to 1p34, [4] and recently Kondo identified mutations in the gene encoding interferon regulatory factor 6 causing van der Woude syndrome (VWS). [5],[6] Approximately 30-50% of all cases arise as de novo mutations.

Affected individuals have a 50% chance of transmitting the trait to next generation. [6] Lip pits may be divided into three types relative to their location: Commissural, midline upper lip and lower lip. It can also present as circular or oval, transverse, slit-like or sulci. When various types of pit occur in an individual, the term "mixed type" is used. [7] Pits are usually medial, on the vermilion portion of the lower lip. They tend to be centered on small conical elevations in infancy, but in adults present as simple depressions. Lip pits may have variable clinical aspects, reflecting several degrees of gene expression. There may be a single pit in the center of the lip, two pits (one on each side), or one pit on either the right or left side. They may occur on the inner lip surface, outer lip surface, or on the margin between the inner and outer lip. They may be shallow or deep, varying from asymptomatic slight depression on the vermilion border to fistulas up to 15 mm deep that penetrate into subjacent accessory salivary glands and drain small amounts of saliva, either visible or expressible, in the lip pits. [8],[9]

 Case Report

A 20-year-old male patient visited dental Outpatient Department of Oral Medicine and Radiology Department, with a chief complaint of dirty teeth. There was no relevant medical history. His speech and deglutition were not affected. The patient did not report a history of the consanguineous marriage of his parents.

On extraoral examination, there were two symmetrical, roughly oval swellings on either side of the midline of the lower lip with round depressions about one-half centimeter from the midline on the center of the swelling. The depressions were shallow, and there was no evidence of any fistulous tract or discharge from the depressions [Figure 1]. On palpation, the lower lip was of normal consistency, and there was no discharge on digital pressure.{Figure 1}

History revealed that these swellings were present since birth and were asymptomatic. On general examination, there were no contributory findings anywhere in the body. There was no evidence of cleft lip. Intra-orally, all teeth were of normal size, shape and number. No evidence of cleft palate was noticed. None of the family members presented with any similar findings.

According to the history and clinical findings, the case was diagnosed as an isolated case of congenital lower lip pits, without any syndromic involvement. Since the patient was asymptomatic he was not keen on getting any treatment for the above anomaly, it was left untreated, and oral prophylaxis was done. However, genetic counseling and for future cosmetic correction of the lip pits was advised.


During the course of normal development, a fusion of the mandibular arch and sulcus lateralis of the lower lip occurs at 5.5 weeks, whereas fusion of the maxillary and frontonasal processes occurs at 6 weeks. It is theorized that a common event may simultaneously disrupt fusion in both locations. This accounts for the strong association between the lip pits and cleft lip or palate. [10]

Congenital lower lip pits have been reported in about 0.001% of the populations, and 65-75% of the cases are associated with cleft lip and palate. Lower lip pits are fairly distinctive. They are observed in 88% of VWS, and in 64% they are the only manifestation of the syndrome. [11],[12] Lip pits may have varied presentation and may present as small, raised area (called a microform) with a nipple-like appearance. [13] The other clinical manifestations of the syndrome include hypodontia, bifid uvula, ankyloglossia, hypernasal voice and systemic manifestations like syndactyly, sygnathia, accessory nipples, anomalies of limb and cardiac anomalies though rare. [14] Although any lip pits should at least suggest VWS, though all lip pits may not be syndromic, as in the present case. In fact, commissural pits not associated with VWS occur in about 2% of neonates and may be associated with periauricular sinuses. Midline pits are unusual and often sporadic, as are pits of the upper lip. It is also important to differentiate VWS syndrome from other congenital anomalies that have been associated with labial pits such as popliteal pterygium syndrome, Hirschsprung's disease and occasionally the type-1 orofaciodigital syndrome. [15]

Patients often mistake these pits as depressions caused by the maxillary central incisors, even though they are present since birth, months before maxillary incisors erupt. As often occurs, the depressions were thought to have developed because of the pressure from the teeth and so the patient has not had any previous evaluation of the pits. Thus, it is mandatory to evaluate for other anomalies associated with the lip pits.

The lip pits may require no treatment. [14] The reasons that make most of the patients desire their excision are minor cosmetic implications, the mucous secretions, and possible chronic, uncontrollable inflammations. Excision of sinus tract should be complete because if the mucous glands attached to fistula are left behind, could lead to the formation of a mucoid cyst. However, the main drawback of this operation is looseness of lip muscles. Secondary infections, although not frequently reported are to be avoided, and patients who do not undergo surgical correction are instructed for about meticulous hygiene care. [7] As the presented case was asymptomatic, no treatment for lip pits was indicated. Maintenance of good oral hygiene and regular follow-ups was advised.


The recognition of familial lip pits is critical for genetic counseling. Physical examination of relatives, close examination of family photos or interviews of older relatives may be necessary to identify minimally affected family members. However, because of the variable expressivity of the phenotype, the potential effects on unborn children are difficult to predict, and high-resolution ultrasound and fetal echocardiography may be of some use in characterizing the severity of the phenotype.


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