Introduction:
The face is one of the most important portions of the human body. Also, facial aesthetics plays a major role in our society. Any facial deformity thus causes functional and aesthetic problems. Van der Woude syndrome is one such condition that is associated with facial deformities.
What Is Van der Woude Syndrome?
Van der Woude syndrome is a rare but complicated and autosomal dominant condition. Van der Woude syndrome is also referred to as autosomal dominant inherited clefting syndrome. This congenital syndrome was first described by Demarquay in the year 1845. This disease has a high penetrance alongside a variable expression by genetics. In this condition, lip pits are present in the paramedian portion of the vermillion border of the lip. Along with this, congenital lip pits might further occur in association with cleft lip and cleft palate or with both. This makes the Van der Woude syndrome condition clinically challenging and responsible for common clinical complications in the orofacial region. This condition causes functional problems in the orofacial region like like difficulty in chewing food, drinking, or improper speech. Almost 80 percent of patients suffering from this condition complain about such complications.
It is not just an autosomal dominant clefting syndrome but also this condition may include other forms of disorders like bilateral midline lower lip pits, cleft lip, and cleft palate. The complication that is seemingly more significant is that genetic counseling is required in families affected by Van der Woude syndrome. The offspring of the persons suffering from Van der Woude syndrome has a 67 percent higher chance of developing such complications.
What Is the Etiology?
Current research identifies most of the cases of Van der Woude syndrome are associated with a deletion of the 1q32–q41 portion in chromosome 1. Also, the presence of an extrachromosomal locus at the 1p34 site of chromosome 1 has also been identified as a causative factor for this condition. The pathology of the lip pits is attributed embryologically to the notching of the lips. This would initiate an interference at a very early stage of development. This leads further to the fixation of a portion of the lip tissue at the base of the notch or the pit formed. Another hypothesis in medical research accepted is that as a result of the failure of the union of lateral sulci of lip embryologically, they would be formed.
Though most of the time these lip pits are asymptomatic, they cause esthetic concern. However, the persisting symptoms like continuous or intermittent drainage in the watery or salivary secretions are discomforting or distressing situations for affected individuals. Oral discomfort in the patient would be caused because of spontaneous or induced drainage within the saliva or mucus secreted in the mouth. Application of pressure during a meal may cause saliva or mucus secretions from the affected side frequently. This also makes it an esthetic cause of distress and a source of mental strain or stress to the affected individuals. They may also cause fear of social stigma as well.
What Are the Oral Complications of Van der Woude Syndrome?
Poor aesthetics is one of the main complaints, especially in patients who suffer from a congenital lip fistula. The pits are treated usually only by surgical resection, but that may have drawbacks too compromising lip fullness or closure. The major clinical feature of course is that the congenital lip pits appear rather as a malformation along the vermilion border of the lip. This may be with or without any excretion of mucus. The other associated features of Van der Woude syndrome would vary from affected individual to individual. In some cases, associated oral and dental abnormalities can be seen along with systemic complications. These complications are:
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Hypodontia (less number of teeth in the mouth).
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Enamel hypoplasia (Improper mineralization of the enamel layer)
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Tongue tie or ankyloglossia (attachment of the tongue to the floor of the mouth).
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A high-arched palate.
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Cleft lip (gap between two portions of the lip) with or without cleft palate (gap in the palate).
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Systemic anomalies such as limb defects, congenital heart defects, ventricular septal defects, hydrocephalus (a neurological complication characterized by accumulation of cerebrospinal fluid in the brain), and patent ductus arteriosus (presence of an opening in the heart) can be seen.
What Are the Treatment Options?
The primary treatment for patients suffering from Van der Woude syndrome is the excision of congenital lip sinus which is considered the first line of standard treatment. The focus of the oral and maxillofacial surgeon is to eliminate associated cosmetic deformities present in the face due to this condition. Although it is a known fact in the medical literature that many patients neither require nor in fact, request surgery as the syndrome does not pose any clinical issues as such except mild discomfort orally.
There will still be a small subset of patients who might find the aesthetics to be a major cause or concern. Though extremely rare, a single case report describes the dangerous nature of the sinus or fistula tract wherein a carcinoma developed in the area of the lower lip in a patient suffering from Van der Woude syndrome. Secondary inflammation and infection are responsible for such carcinomatous transformations.
That is why, excision of the lip sinus tracts is indicated in the cases of recurrent inflammation. Also, this will eliminate the possibility of any mucous cyst formation in the affected area. Complete removal of the sinus tract is necessary as the remnants of the mucous glands attached to the fistula tract may lead to mucoid cyst formation. However surgical implications have their own side effects that should be considered thoroughly. For instance, one of the major drawbacks of this surgery is the loosening of the lip muscles. However such complications are rarely seen.
Hence the gold standard treatment is the removal of the fistula tract by the oral surgeon for restoring esthetic or functional issues in the Van der Woude syndrome patients.
Conclusion
Van der Woude syndrome is a rare inherited condition. This may cause complications like pits and fissures in the lips, and cleft lips. Dentists should be well aware of the complex nature of congenital lip pits commonly occurring in Van der Woude syndrome. The congenital lip pits are always needed to be differentiated from other types of pathologies. These complications are responsible for aesthetic problems and complications like repeated infection. Surgical removal of such pits and fistula tracts is the primary treatment modality in such cases.
