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 Table of Contents  
CASE REPORT
Year : 2015  |  Volume : 27  |  Issue : 2  |  Page : 311-313

Congenital upper lip pit: A rare case report


Department of Oral Medicine and Radiology, Sri Rajiv Gandhi College of Dental Sciences and Hospital, Bangalore, Karnataka, India

Date of Submission06-Apr-2015
Date of Acceptance21-Oct-2015
Date of Web Publication21-Nov-2015

Correspondence Address:
Bhavana T Veerabasvaiah
Department of Oral Medicine and Radiology, Sri Rajiv Gandhi College of Dental Sciences and Hospital, Bangalore, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-1363.170171

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   Abstract 

One of the rarest developmental malformations of the lip is congenital lip pits. They are usually seen as bilateral depressions in the vermilion zone of the lip and occur on the paramedian portion of the vermilion border of the lip. They are extremely rare in the upper lip. Lip pits are due to the failure of complete union of embryonic lateral sulci of the lip/notching of lip at an early stage of development with fixation of tissues of the base of the notch. Lip pits have also been associated with a variety of other congenital disorders and other malformations. The clinical and pathologic picture and the therapeutic aspects of this condition are discussed in this paper.

Keywords: Cleft lip, cleft palate, congenital lip pits, Van der Woude syndrome


How to cite this article:
James L, Veerabasvaiah BT, Ghouse N. Congenital upper lip pit: A rare case report . J Indian Acad Oral Med Radiol 2015;27:311-3

How to cite this URL:
James L, Veerabasvaiah BT, Ghouse N. Congenital upper lip pit: A rare case report . J Indian Acad Oral Med Radiol [serial online] 2015 [cited 2019 Dec 12];27:311-3. Available from: http://www.jiaomr.in/text.asp?2015/27/2/311/170171


   Introduction Top


Lip pit is an autosomal dominant trait affiliated with development defects involving the paramedial portion of the vermillion of the lip and is the most frequently occurring abnormality of the lip. It is one of the rarest autosomal dominant inherited disorders constituting about 2% of all syndromic cases of cleft lip and palate with an incidence of 1 in 1-2 lakhs. It has no gender predilection and is equally distributed among both genders. It shows high expressivity and penetrance. The expressivity of syndrome is variable; all the signs perhaps present either alone or in combination, with no abnormalities detected clinically.


   Case Report Top


A 27-year-old male patient visited the Department of Oral Medicine and Radiology with a chief complaint of yellowish discoloration of teeth and wanted to get it cleaned. General physical examination of the patient was non-contributory with no history of trauma or surgery. Extraoral examination revealed unilateral pit present on the right side of the upper lip, measuring about 3 × 3 mm, which was round in shape [Figure 1] and was present since birth. History of filling of saliva in the pit every 5 min was reported. 0.02 ml of saliva was noticed in the pit and the defect was non-tender. The defect was not associated with cleft lip and palate or any other abnormality; thus, a provisional diagnosis of congenital lip pit was made. Intraoral examination revealed moderate amounts of calculus and stains, dental caries in relation to 37 and 47, partially erupting 48, generalized bleeding on probing, and gingival recession in relation to 16,17, 26, 27, 31, 32, 33, 36, 37, 41, 42, 43, 46, and 47.
Figure 1: Unilateral lip pit on the upper lip

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[TAG:2]Discussion [/TAG:2]

Congenital lip pits, also known as "congenital sinus of the lower lip," "lip sinus," and "midline sinus of the upper lip," are a cutaneous condition that are divided into three types based on their location:

  1. Commissural,
  2. Upper lip, and
  3. Lower lip.
The precedent of lip pits was reported by DC Murquay in 1845. In 1940, Gurney reported four cases of lip pits in a family. In 1943, Fogh Andersen recorded 11 cases of lip pits in three family groups in his reports. In 1947, Test and Falls reported lip pits in five generations of the same family. In 1954, Van der Woude, in her study of five pedigrees, reported the combination of lower lip pits along with cleft lip and palate, which was based on a single dominant gene; she recognized a syndrome and called it as Van der Woude syndrome (VWS).

Congenital lip pits and fistulae are malformations of the lips which usually follow a hereditary pattern, may be seen alone, or may be associated with other anomalies. To explain the etiology of lip pits, different theories have been postulated. Lip pits can result from notching of the lip at an early stage of development with fixation of tissues at the base of the notch or it may follow a failure of complete union of embryonic lateral sulci of the lip. Lip pits usually appear as a unilateral/bilateral depression that occurs on the vermilion portion of either lip, but commonly on the lower lip. [1] In our case, it was present on the upper lip laterally.

Congenital pits of the lower lip in association with clefting of the lip or palate or both occur in many syndromes. Gurney (1940) reported 4 cases of lip pits in one family; Fogh Andersen (1943) reported 11 cases of lip pits in three family groups; and Test and Falls (1947) reported lip pits in five generations of the same family. [2],[3],[4] They are extremely rare in the upper lip, and only one-third of them are placed laterally. [5] Van der Woude (1954) found, after a careful study of five pedigrees, that pits of the lower lip with cleft lip and palate are based on a single dominant gene; she recognized a syndrome that has since been known as the VWS. Van der Woude was the first to combine lower lip pits with cleft lip and/or cleft palate and found a new clinical entity, while she also described its mode of heredity. [6] The prevalence of VWS varies from 1:100,000 to 1:40,000 stillborn or live births. [6],[7],[8] No significant difference between sexes has been reported concerning the prevalence of the syndrome. The only symptom found is the continuous or intermittent drainage of water or salivary secretions. [8],[9] Similar features were evident in our case also. The mucus accumulation occurs more rapidly before and during mealtimes, or in relation to crying when infants are concerned. The anomaly is attributable to a defective gene which would explain the familial appearance and the frequent association with cleft lip or cleft palate (or both), or the anomaly is the result of retardation or inhibition of a certain phase in the normal development of embryonic lower lip, hence the constancy of location. [4],[8],[9] Other oral manifestations are infrequently reported, including syngnathia; narrow, high-arched palate; and ankyloglossia. Extraoral manifestations are reported, but are rare, including limb anomalies, popliteal webs, and brain abnormalities. Accessory nipples, congenital heart defects, and Hirschsprung disease have also been reported.

The occurrence of a single lip pit is considered an incomplete expression, and it typically occurs on the left side of the lower lip. There are also three different shapes for lip pits, the most common being circular or oval; less common forms include slit-like or transverse. The lip pits extend into the orbicularis oris muscle, ending in blind sacs between mucus glands. In some cases, mucus is excreted when the muscles contract. The differential diagnosis of lip pits includes VWS, popliteal pterygium syndrome (popliteal webs, cleft lip/palate, lower lip pits, anomalies of genito-uterine tract as cryptorchidism and bifid scrotum in males, hypoplastic labia majora and uterus in females), and oral-facial-digital syndrome (orofacial features of cleft palate, bifid tongue, hypodontia, lip pits, etc. with digital, renal, and central nervous system abnormality). [2],[10]

In our case, since it was asymptomatic, no treatment was necessary and only periodic follow-up was advised. The clefts are treated like an isolated cleft lip or palate; the sinuses of the lower lip should be excised to correct the deformity and in case of possible infections. Electrocoagulation techniques and marsupialization of the sinuses into the oral cavity have been discontinued due to high complication rates and poor results.


   Conclusion Top


Though congenital lip pits are a rare developmental defect of lip, this anomaly is attributable to a defective gene which would explain the familial appearance and the frequent association with cleft lip or cleft palate (or both).

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Arangannal P, Muthu MS, Nirmal L. Van der woude syndrome: A Case report. J Indian Soc Pedod Prev Dent 2002;20:102-3.  Back to cited text no. 1
[PUBMED]    
2.
Newman MA, Nartey N, Nyako E. Van der woude syndrome: Report of a case. Ghana Med J 2005;39:68-70.  Back to cited text no. 2
    
3.
Souissi A, El Euch D, Mokni M, Badri T, Ben Osman Dhahri A. Congenital lower lip pits: A case report. Dermat Online J 2004;10:10.  Back to cited text no. 3
    
4.
Zarandi MM, Givehchi G. Familial occurrence of lip pits: A case report. Acta Medica Iranica 2002;40:132-5.  Back to cited text no. 4
    
5.
Ozgür F, Tunçbilek G. Bilateral congenital pits of the upper lip. Ann Plast Surg 2000;45:658-61.  Back to cited text no. 5
    
6.
Rizos M, Spyropoulos N. Vander woude syndrome: A review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment. Eur J Orthod 2004;26:17-24.  Back to cited text no. 6
    
7.
Sudhakara Reddy R, Ramesh T, Vijayalaxmi N, Lavanya Reddy R, Swapna LA, Rajesh Singh T. Van der woude syndrome: A syndromic form of orofacial clefting. J Clin Exp Dent 2012;4:e125-8.  Back to cited text no. 7
    
8.
Soni R, Vivek R, Srivastava A, Singh A, Srivastava S, Chaturvedi TP. Van der woude syndrome associated with hypodontia: A rare clinical entity. Case Rep Dent 2012;2012:283946.  Back to cited text no. 8
    
9.
Hasan S, Khan NI. Vander woude syndrome: A case report. Recent Res Sci Technol 2011;3:53-7.  Back to cited text no. 9
    
10.
Parikh SN, Crawford AH, Do TT, Roy DR. Popliteal pterygium syndrome: Implications for orthopaedic management. J Pediatr Orthop B 2004;13:197-201.  Back to cited text no. 10
    


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