Congenital double upper lip: A case report and review of the literature

Abstract

Congenital double lip is a rare developmental anomaly which usually involves the upper lip more than the lower lip. It may occur in isolation or as a part of Ascher’s syndrome. Sometimes upper and lower double lips occur simultaneously.

The occurrence of double lip may result in facial deformity especially when the patient attempts to talk, smile or even show the teeth. It may also interfere with speech or mastication. Although surgery may be undertaken to facilitate speech and mastication, the majority of cases are operated for cosmetic reasons.

A case of congenital double upper lip, which was surgically treated after orthodontic treatment, for cosmetic reasons, is reported. The different surgical approaches to the management of double upper lip are reviewed with a note on timing of surgery in patients who have concurrent orthodontic or prosthodontic problems.

Although the majority of cases of double lip are treated by Plastic Surgeons and Oral and Maxillofacial Surgeons, it is important to make dentists aware of this condition since they may be the first clinicians to encounter patients with this abnormality.

1. Introduction

Double lip, also referred to as “macrocheilia” or hamartoma (Peterson, 1972), is a rare anomaly which affects the upper lip more commonly than the lower lip (Martins et al., 2004). It consists of a fold of excess or redundant hypertrophic tissue on the mucosal side of the lip (Martins et al., 2004; Barnett et al., 1972; Cohen et al., 1988) and is caused by excessive areolar tissue and non-inflammatory labial mucous gland hyperplasia of the pars villosa (Martins et al., 2004; Gorlin et al., 1976).

Double lip usually manifests as 2 masses of hyperplastic tissue on either side of the midline (Martins et al., 2004; Barnett et al., 1972; Gomez-Duaso et al., 1997; Eski et al., 2007). Even though a unilateral double lip has also been reported (Martins et al., 2004). Sometimes, such bilateral hyperplastic tissues are asymmetrical with one side being bigger than the other (Palma and Taub, 2009).

Double upper lip may be either a congenital anomaly or an acquired deformity. The acquired double lip may be secondary to trauma (Ali, 2007; Narang, 1970) or oral habits such as sucking the lip between diastema (Martins et al., 2004) or between ill-fitting dentures (Martins et al., 2004; Alkan and Metin, 2001).

The congenital type is a developmental anomaly (Ali, 2007) and usually involves the upper lip but may also involve the lower lip (Converse et al., 1977; Reddy and Kotewara, 1989). Cases of simultaneous occurrence of double upper and lower lips have, occasionally, been reported (Cohen et al., 1988; Palma and Taub, 2009; Neville et al., 2002; Parmar and Muranjan, 2003).

In the foetus, the mucosa of the upper lip is divided into 2 transverse zones namely, an outer zone (pars glabrosa) which is smooth and close to skin, and an inner zone (pars villosa) which is villous and similar to the mucosa (Ali, 2007). A double lip, which is hypertrophy of the pars villosa, is thought to arise during the 2nd and 3rd month of gestation, from persistence of an exaggerated horizontal sulcus between the pars glabrosa and the pars villosa of the developing lips (Martins et al., 2004; Reddy and Kotewara, 1989; Rintala, 1981).

Clinically, the double lip, usually the upper, has a horizontal running duplication located between the inner (pars villosa) and the outer (pars glabrosa) zones of the lip. A vermillion with transverse furrow between the two borders appears when orbicularis oris muscle contracts during a smile. The fold usually cannot be seen when the lips are closed, but visible when the patient is smiling or talking (Gorlin et al., 1976). Rarely, the lower lip is also enlarged (Gorlin et al., 1976; Converse et al., 1977; Reddy and Kotewara, 1989).

The deformity may be present at birth and become more prominent as the patient grows (Eski et al., 2007). It may occur in isolation or as a part of Ascher’s syndrome (Gorlin et al., 1976; Gomez-Duaso et al., 1997; Ascher, 1920). It is generally accepted that the incidence of double lip has no predilection for race or gender (Cohen et al., 1988; Alkan and Metin, 2001; Costa-Hanemann et al., 2004; Lamster, 1983), however Palma and Taub, in a very recent report in 2009, have suggested a male predilection of 7:1.

The treatment of these cases is surgical and is usually indicated for cosmetic reasons when double lip leads to facial disfigurement, or for functional reasons, if it interferes with speech and mastication. Recurrence after surgery is extremely rare in congenital cases (Barnett et al., 1972; Rintala, 1981).

A case of double upper lip is reported in a 15-years-old male patient who was undergoing orthodontic treatment for his dental malocclusion.

2. Case report

A 15-year-old male patient was referred to the Department of Oral and Maxillofacial Surgery by the Orthodontist in King Khalid Hospital, Najran, for management of his thick upper lip. He was originally referred to the Department of Orthodontics for correction of upper and lower anterior dental crowding but he also expressed the desire to correct his thick upper lip and was therefore sent for surgical consultation.

His main complaint was that his upper lip was large and he felt embarrassed when he was among his friends, especially when he smiled. So he wanted to correct it cosmetically. There was no family history of double lip and no previous history of trauma or surgery.

Physical examination revealed a thick upper lip even at rest which was accentuated when the patient smiled or showed his teeth, with excessive transverse fold on the mucosal aspect. He had class 1 dental malocclusion with upper and lower anterior crowding. There was no blepharochalasis (drooping) of the upper eyelids and no thyroid enlargement.

A provisional diagnosis of congenital double upper lip was made. Since the patient was going to have orthodontic treatment, it was decided to delay the surgery until after the orthodontic treatment. This is because the outcome of the orthodontic treatment will determine the final position of the anterior teeth and therefore the amount of lip deformity that would show.

Once the orthodontic treatment was completed 18 months later, the patient was referred back to the Department of Oral and Maxillofacial Surgery for further management but he deferred surgery for another year. It was noticed during the second attendance to the Oral and Maxillofacial Surgery clinic, that the upper lip was showing more redundant tissue after the orthodontic treatment (Fig. 1a). The mucosal fold became worse when he tried to show his well-aligned teeth (Fig. 1b). There was slightly enlarged thyroid gland.

Figure 1.

Preoperative clinical photograph showing (a) thick upper lip when both lips are relaxed. (b) Accentuation of excess upper labial mucosa on attempt to show his teeth.

After discussion with the patient, who was now 18 years old, regarding the surgical management of the lip deformity, he opted for general anaesthesia. Preanaesthetic evaluation showed haemoglobin level of 14.2 g/dl, white blood cell count of 5.7 × 10⁹/L and platelets count of 210 × 10⁹/L. Blood chemistry, including urea and electrolytes as well as thyroid function test, were within normal range.

Under general anaesthesia, with nasotracheal intubation, the redundant hyperplastic upper labial tissue was demarcated with blue marking pen (Fig 2a) and excised by a transverse ellipse incision from one commissure to the other, using blunt and sharp dissection. The minor salivary glands in the surgical field were removed to prevent future mucocoele formation. Haemostasis was achieved with bipolar diathermy. The surgical defect was closed in layers with deep interrupted 3/0 polyglycolic acid (vicryl) and superficial 4/0 polyglycolic acid (vicryl) sutures (Fig. 2b). A light pressure dressing was placed over the upper lip for 24 h and the patient was discharged two days postoperatively. Histopathology examination of the excised specimen showed normal labial mucosa with numerous hyperplastic mucous glands and capillaries. The sutures were removed in the outpatient clinic 2 weeks postoperatively and reviewed after 6 weeks and then at 6-monthly intervals.

Figure 2.

Intra-operative photo showing: (a) demarcation for the ellipse excision of redundant upper labial mucosa (b) view of the patient with sutured wound after excision of excess upper labial mucosa.

Healing was uneventful and the patient was satisfied with the postoperative result (Fig. 3a and b). It is now 3 years since the surgery and the upper lip looks excellent (Fig. 4a and b).

Figure 3.

Postoperative photograph of the patient, 6 weeks postoperatively, showing good cosmetic results with (a) lips in relaxed position (b) when showing his teeth.

Figure 4.

Postoperative photograph of the patient, 3 years postoperatively, showing good cosmetic results with (a) lips in relaxed position (b) when showing his teeth.

There has been no further increase in size of the thyroid gland and no sign of blepharochalasis.

3. Discussion

Although present at birth, the congenital double lip becomes apparent only after eruption of the permanent teeth (Martins et al., 2004; Converse et al., 1977). It is generally reported that double upper lip is not evident when the lip is at rest but excess fold of redundant tissue projects beyond the vermillion border when the lip is tense as in smiling or laughing or attempting to show the teeth (Eski et al., 2007; Ali, 2007). During smiling the orbicularis oris contracts, causing the lip to retract and the mucosa to be positioned over the maxillary teeth (Martins et al., 2004). However, the patient in this report had showed redundant tissue on the upper lip even at rest and it became accentuated when he smiled or attempted to show his teeth.

Some patients with double upper lip present with a central constriction due to the attachment of the upper labial frenum (Gorlin et al., 1976; Gomez-Duaso et al., 1997; Eski et al., 2007; Reddy and Kotewara, 1989; Costa-Hanemann et al., 2004) while others do not have constriction (Eski et al., 2007; Ali, 2007) including the case presented here. Eski et al. (2007) reported 5 cases of double upper lip in which only one patient presented with a central constriction.

Double lip has been associated with some syndromes. The combination of double lip and blepharochalasis was first described by Laffer in 1909 (Gorlin et al., 1976) but it was Ascher, an ophthalmologist who, in 1920, described the syndrome (a triad) of double upper lip, blepharochalasis and non-toxic thyroid enlargement. The exact cause is unknown but may be transmitted as an autosomal dominant disorder (Ali, 2007).

The swelling of the eyelids and the enlargement of the lips in the syndrome may occur simultaneously (Gorlin et al., 1976). Barnett et al. (1972) reported that examination of previously published pictures of patients with isolated double lip revealed evidence of blepharochalasis. However, some reports of isolated cases of double lip have also been published (Martins et al., 2004; Gorlin et al., 1976; Eski et al., 2007). Sometimes blepharochalasis appears well after the double upper lip has been diagnosed, suggesting the progressive nature of Ascher’s syndrome (Ali, 2007).

Thyroid enlargement is variable and may be present in only 10–50% of cases of Ascher’s syndrome and therefore not considered essential in the diagnosis of the syndrome (Gomez-Duaso et al., 1997; Ali, 2007). Thyroid enlargement is not associated with any toxic symptoms. It may appear years after the eyelid involvement (Gorlin et al., 1976) or may only be evident after scanning with radioactive iodine (Papanayatou and Hatziotis, 1973).

The patient described in this report had double upper lip and slightly enlarged thyroid gland but had no blepharochalasis. A search of the literature suggests that the occurrence of double lip and blepharochalasis is necessary for the diagnosis of Ascher syndrome (Gorlin et al., 1976; Gomez-Duaso et al., 1997; Ali, 2007), and therefore this patient could not be diagnosed with Ascher syndrome. However, since blepharochalasis has been reported to occur years after the appearance of double lip (Gorlin et al., 1976; Ali, 2007), it is possible that this patient may develop a full blown Ascher syndrome later. This may only be seen if the patient commits to a long term follow-up.

Although double lip has long been associated with Ascher syndrome, it has also been described in association with other congenital abnormalities. Parmar and Muranjan (2003) described a 21-years old patient with double upper and lower lips, unilateral eyelid ptosis, hypertelorism, blepharophimosis, broad nose with broad nasal tip, and bilateral third finger clinodactyly, and high arched palate and suggested that it was a new syndrome which is different from Ascher syndrome. Costa-Hanemann et al. (2004) described a case of double upper lip associated with haemangiomas and enlargement of thyroid gland. Congenital double lip has also been associated with bifid uvula (Barnett et al., 1972), cheilitis glandularis (Cohen et al., 1988) and cleft palate (Calnan, 1952–1953).

The differential diagnosis of double lip should include other forms of chronic enlargement of the lip such as haemangioma, lymphangioma, angioedema, cheilitis glandularis, and glandular granulomatosis (Costa-Hanemann et al., 2004). These conditions, however, do not present with central constriction of the lip (Costa-Hanemann et al., 2004).

The treatment of double lip is surgical. It is indicated for aesthetic reasons (Martins et al., 2004) or if the excess tissue interferes with mastication, speech (Costa-Hanemann et al., 2004) or leads to oral habits such as lip biting or sucking between teeth or maloccluding dentures (Barnett et al., 1972; Costa-Hanemann et al., 2004).

Costa-Hanemann et al. (2004) reported a case of double upper lip in a 65-year-old patient who had been aware of the anomaly all along and only had surgery at that late age in order to reduce interference with speech and mastication. However most patients with double lip, including the case reported here, have surgery for aesthetic reasons.

The surgery involves excision of the excess mucosa and submucosa without involving the underlying muscular layer (Lamster, 1983; Epker and Wolford, 1977) and is carried out under either local anaesthesia, using infraorbital nerve block, with or without ring block, to prevent distortion of the tissues, or under general anaesthesia (Costa-Hanemann et al., 2004). The surgery for the patient in this report was done under general anaesthesia at his request after the anaesthetic options were discussed with him.

A variety of surgical approaches for correction of double upper lip have been described.

For those without central constriction, excision is done through transverse elliptical incision as advocated by Reddy and Kotewara (1989) and was also used by other authors (Cohen et al., 1988; Ali, 2007; Costa-Hanemann et al., 2004) as well as the case presented in this report.

In the patients where there is a short midline constriction, the use of double ellipse incisions combined with a central vertical Z-plasty has been used to release the constricting band with a satisfactory result (Eski et al., 2007). Guerrero-Santos and Altamirano (1967) described the use of a W-plasty in the treatment of double upper lip which was subsequently used by Benmeir et al. (1992) in 5 patients.

The elliptical excision has been used successfully for most patients in the case reports of double lip found in the literature (Palma and Taub, 2009). However, other authors believe that this surgical method may have the disadvantage of removing more tissue than necessary thus leading to thinning and deformity of the upper lip (Guerrero-Santos and Altamirano, 1967; Benmeir et al., 1992). These authors, who advocate the use of the W-plasty method, propose that the flaps prevent lip deformity and avoid the problems with “dog ears” (Guerrero-Santos and Altamirano, 1967; Benmeir et al., 1992). Since both elliptical excision and W-plasty achieve similar results, the choice of surgical approach will depend on the preference and experience of the surgeon concerned (Palma and Taub, 2009). Other surgical methods include electrosurgical excision (Peterson, 1972) and triangular excision (Lamster, 1983).

Histopathological examination of the excised specimen from the lips shows hyperplastic mucous glands, loose areolar tissue, numerous blood-filled capillaries and perivascular infiltration with plasma cells and lymphocytes (Gorlin et al., 1976; Gomez-Duaso et al., 1997). The histopathology examination for the patient in this report showed normal labial mucosa with numerous hyperplastic mucous glands and capillaries.

In conclusion, I recommend that when a patient with double lip presents with an orthodontic problem it may be better to defer the lip surgery till after completion of the orthodontic treatment since the lip position and the amount of redundant lip tissue seen during smile may be influenced by the final outcome of the orthodontic treatment. If the lip surgery is done before orthodontic treatment, it may require fine revision at a second operation later on. The same is recommended for such patients who are undergoing prosthodontic treatment involving the anterior teeth.

Because of the progressive nature of the disorders in patients with double lip or suspected Ascher’s syndrome, it is advisable to follow-up the patients after surgery because blepharochalasis and non-toxic thyroid enlargement may develop later or become worse and may require surgical intervention. The patient in this report was followed-up in outpatient clinic for 3 years before he stopped attending. During that period there was no recurrence of the double upper lip or a development of blepharochalasis.