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| LETTER TO EDITOR |
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| Year : 2014 | Volume
: 5
| Issue : 2 | Page : 247-248 |
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Isolated lower lip pits
Osama A Samargandi1, Mahmoud Fakiha2
1 Department of Surgery, Division of Plastic and Reconstructive Surgery, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia
2 Department of Surgery, Division of Plastic and Reconstructive Surgery, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia
| Date of Web Publication | 10-Apr-2015 |
Correspondence Address:
Osama A Samargandi
Department of Surgery, Division of Plastic and Reconstructive Surgery, Faculty of Medicine, King Abdulaziz University, Jeddah
Kingdom of Saudi Arabia
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0975-5950.154854
How to cite this article:
Samargandi OA, Fakiha M. Isolated lower lip pits. Natl J Maxillofac Surg 2014;5:247-8 |
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.
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. [1],[3],[4] 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.
 References | |  |
| 1. | Červenka J, Gorlin RJ, Anderson VE. The syndrome of pits of the lower lip and cleft lip and/or palate. Genetic considerations. Am J Hum Genet 1967;19:416-32.  |
| 2. | Schutte BC, Basart AM, Watanabe Y, Laffin JJ, Coppage K, Bjork BC, et al. Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome. Am J Med Genet 1999;84:145-50. |
| 3. | Ziai MN, Benson AG, Djalilian HR. Congenital lip pits and van der Woude syndrome. J Craniofacial Surg 2005;16:930-2. |
| 4. | Rizos M, Spyropoulos MN. Van der Woude syndrome: A review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment. Eur J Orthod 2004;26:17-24. |
| 5. | Chen CH, Liao HT, Shyu VH, Chen PT. Inverted-T lip reduction for lower lip repair in Van der Woude syndrome: A review and comparison of aesthetic results. Int J Oral Maxillofacial Surg 2013;42:198-203. |
[Figure 1]
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Van der Woude Syndrome With a Novel Mutation in the IRF6 Gene |
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| Alper Ural,Fatma Bilgen,Seda Çakmakli,Mehmet Bekerecioglu | | Journal of Craniofacial Surgery. 2019; 30(5): e465 | | [Pubmed] | [DOI] | | | 3 |
Van der Woude syndrome presenting as a single median lower lip pit with associated dental, orofacial and limb deformities: a rare case report |
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| Sunil Richardson,Rakshit Vijay Khandeparker | | Journal of the Korean Association of Oral and Maxillofacial Surgeons. 2017; 43(4): 267 | | [Pubmed] | [DOI] | | | 4 |
Management of Lip Pits in Van Der Woude Syndrome: A Clinical Classification with Difficulty Index |
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| Sunil Richardson,Rakshit V. Khandeparker | | Journal of Oral and Maxillofacial Surgery. 2016; | | [Pubmed] | [DOI] | |
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