Cheiloplasty for False Median Cleft Lip Associated With Holoprosencephaly: The Use of Skin Graft for Philtrum Reconstruction, the Risk of Simultaneous Columella Reconstruction

Because holoprosencephaly leads to a poor prognosis, cheiloplasty is rarely performed. However, the prognosis has improved recently owing to advances in medical care.¹ As a result, aesthetic and functional treatment with cheiloplasty may be possible. The use of skin grafts for philtrum reconstruction can compensate for tissue defects and make the lip shape appear more natural than midline suture closure,^1-11 which has been used previously. We report a case of false median cleft lip wherein cheiloplasty helped achieve a good shape, but airway stenosis occurred postoperatively. Here, we describe the operative procedure of cheiloplasty, the risk of airway stenosis, and the relevant literature.

A female infant with a cleft lip was referred to our hospital. She was born at 39 weeks and 4 days of gestation after an uneventful pregnancy and a normal vaginal delivery. No clear abnormalities were observed during the perinatal period. The patient did not have a relevant family history.

The patient's birth weight was 2835 g (+0 SD). The Apgar scores at 1 minute and 5 minutes were 9 and 10, respectively. Physical examination revealed orbital hypotelorism, wide midline upper cleft lip, severely hypoplastic columella, absent premaxilla and nasal septum, and flat and broad nose (Figure 1). Chromosomal abnormalities were absent. Magnetic resonance imaging (MRI) revealed holoprosencephaly (lobar type) (Figure 2).

The patient was diagnosed with a false median cleft lip associated with holoprosencephaly. It was accompanied by central diabetes insipidus, which was managed with medication, and symptomatic seizures, which occurred only twice postnatally. Oral ingestion was possible; however, tube feeding was used as an auxiliary method. Computed tomography and nasopharyngolaryngoscopy did not show airway obstruction. There were no breathing problems even if the lip was closed by taping before the operation.

At 11 months of age, with a weight of 8.515 kg, cheiloplasty was performed under general anesthesia. On both sides of the defect, the peak and trough of Cupid’s bow were designed just above the white cutaneous roll, at the thickest point of vermilion and 3.5 mm inside the peak (Figure 3). The cleft margin flap, consisting of skin and mucosa, was raised from the alar base through the peak and trough of Cupid’s bow in a way that the vermilion stump became vertical (Figure 4). The orbicularis oris muscle was dissected from the subcutaneous tissue. The cleft margin flap was excised, and the oral mucosal side was sutured. After repairing the orbicularis oris muscle and dry vermilion, the philtrum became a 6 x 13-mm skin defect where the orbicularis oris muscle was exposed. A skin graft was harvested from the left preauricular area and used for philtrum reconstruction (Figure 5). A tie-over dressing was subsequently applied.

After the surgery, the patient was extubated and returned to the room. However, nasal high-flow therapy (NHFT) was initiated because oxygenation was unstable due to narrowed nostrils. On postoperative day 6, a nasopharyngeal airway (NPA) was inserted, and the patient could run through the night only using NPA, without NHFT. On postoperative day 9, even without NPA her respiratory condition did not worsen, and she was discharged from the hospital on postoperative day 13. One year after the surgery, the lip contour was satisfactory (Figure 6).

Holoprosencephaly is a congenital disease wherein the prosencephalon is not adequately divided into left and right hemispheres during early embryogenesis.¹² Infants with holoprosencephaly present with facial malformations such as false median cleft lip. They could be complicated by severe mental retardation, seizures, and dysfunction of feeding, thermoregulation, and endocrine organs.¹³ Although cheiloplasty was rarely performed since most infants died within 1 or 2 years after birth, the prognosis has improved recently due to advances in pediatrics.¹ Cheiloplasty is effective if the patient can tolerate the surgery. The procedure is not only for aesthetics but also for the development of language and oral functions.^6,12

In the false median cleft lip, the amount of skin and soft tissue available for cheiloplasty is limited because of the complete absence of the prolabium and columella. Therefore, in local flaps and midline suture closure, the upper lip is horizontally shortened compared with the lower lip. Insufficient tissue increases tension on the suture line, increasing the risk of hypertrophic scarring and postoperative wound dehiscence.¹³ Midline suture closure cannot reproduce the structures of the philtrum, and it may even be challenging to reconstruct the shape of the Cupid’s bow.¹⁴

Previously, cheiloplasty for false median cleft lip was mostly performed by midline suture closure.^1-11 However, in recent years skin graft has been used.^12,13 In this report, we created philtrum by following these techniques. Using skin grafts for the philtrum can solve the challenge of filling tissue deficiency and reproducing the natural lip shape. By grafting the skin into the philtrum, the skin of the cutaneous lip is used in the region up to the philtral ridges, and the vermilion can be pushed downward to create the correct shape of Cupid’s bow.¹² Although primary Abbe flap¹⁵ can solve both these challenges, since flap division is required secondarily, the risk of flap trouble is high for young children having difficulty in keeping the wound undisturbed, making the procedure less adaptable.

Several reports suggest that columella reconstruction was performed along with cheiloplasty.^{3-5,7,8,10-13} However, the indications must be determined carefully. In cheiloplasty, alars, which have been broad and flat due to cleft lip, move to the midline, and the nostrils become narrower. Following surgery, tissue edema caused by surgical stress temporarily further narrows the nasal cavity. Additionally, if columella reconstruction is performed simultaneously, airway restriction becomes more severe.

Infants with holoprosencephaly are at risk of not adapting to postoperative airway stenosis, causing respiratory deterioration. Some infants have been unable to learn to breathe orally due to mental retardation.⁴ Nasal retainers have reportedly been used for postoperative airway management.⁶ Furthermore, it was necessary to divide the reconstructed columella from the lip.⁴ Based on the finding that respiration recovered immediately by columella division, columella reconstruction can significantly influence airway stenosis.

The columella could be reconstructed simultaneously during this surgical procedure; however, this was ruled out for the patient’s safety. NHFT was required postoperatively, suggesting that careful postoperative management is necessary even if the columella is not reconstructed.

All reports of columella reconstruction, along with cheiloplasty, involved the use of local flaps.^{3-5,7,8,10-13} However, the reconstructed columella is the only support for the nasal dome in holoprosencephaly. Furthermore, the columella, which is made only of soft tissue without cartilage grafts, does not adequately lift the depressed nasal dome.¹² Insufficient volume of original tissue and postoperative atrophy may result in shortened nasal columella and decreased nasal tip.¹¹ Except for a report wherein cartilage grafting was performed simultaneously,⁴ columella reconstructions only used soft tissue, and the nasal tips were depressed after surgery in all cases. In cases where such reconstruction of the nasal framework is not performed, secondary repair by tissue transplant is required in the future.¹¹ Even if columella reconstruction is performed simultaneously, it is not adequate for soft tissue reconstruction. Cheiloplasty alone can be performed as the primary operation to reduce the impact of prolonged surgery time on the patient’s general condition, minimize surgical stress, and reduce postoperative nasal edema.

A skin graft for philtrum reconstruction is effective for cheiloplasty of false median cleft lip. Although simultaneous columellar reconstruction is carefully decided on a case-by-case basis, the respiratory condition may deteriorate after cheiloplasty, and careful postoperative management is required.