A Rare Case of Isolated Congenital Aplasia of Right Lower Lateral Cartilage with Its Aesthetic Correction and Literature Review

Abstract

The congenital non-syndromic nonfamilial isolated absence of nasal structure is exceedingly rare. In this article, we present the sixth case of isolated aplasia of lower lateral cartilage. We have discussed the new technique of reconstruction, reviewed the literature regarding origin of pathology at embryonic level and repair techniques used by different authors.

Introduction

The congenital nasal anomalies manifest on the spectrum from isolated absence of nasal structures e.g. alar cartilages, nasal bones to more extensive forms like hemi nose and arrhinia [1–3]. They are mostly part of syndromes e.g. Binder or have a familial relation as reported in cases with absent columella [2]. Their incidence is 1/20,000 to 1/40,000 live births [4]. The non-syndromic, nonfamilial isolated congenital absence of nasal structures is extremely rare [2]. We here present a case of isolated, non-syndromic, nonfamilial congenital aplasia of right lower lateral cartilage which is sixth reported case in the literature. To the best of our knowledge, 5 such cases [2, 3, 5–7] have been discussed in the literature. 22 cases of hypoplasia [1, 4, 5, 8–14] have been reported. We have discussed our novel reconstructive technique and reviewed the literature regarding speculations about embryonic origins of pathology and reconstructive options used by different authors.

Case Report

A 39-year-old woman presented to our clinic with complaints of nasal airway obstruction and shape deformity of the nose. She reported a history of filler injection for nasal dorsum and tip augmentation 2 years back. There was no history of trauma, previous nasal surgery, infection or any other comorbidities. The physical examination revealed asymmetrical nostrils with left nostril bigger than right, inadequate tip projection, irregular dorsal region (Fig. 1a). The mild septal deviation towards left side, bilateral inferior turbinate hypertrophy and external valve insufficiency on right side altogether attributed to the functional problem. Patient’s expectations were to improve function as well as aesthetic appearance of the nose. Patient was given injection Hylase to dissolve the filler material on the dorsum of nose, 3 days before surgery. Nasal endoscopy and computerized tomography confirmed the findings of the examination. The septorhinoplasty was performed under local anesthesia by 2% lignocaine plus adrenalin with intravenous sedation by Propofol. Bilateral inferior tubinoplasty was performed with radiofrequency. The external approach was used for the surgery with transcolumellar and infracartilagenious incision. After elevation of the skin flap remaining filler material was removed. On exposure of the nasal skeleton, isolated complete absence of right lower lateral cartilage came into picture explaining the small soft tissue skin envelope (Fig. 2a) other nasal structures were normal except mild septal deviation which was corrected. As left alar cartilage was large, cephalic resection was performed. Auricular cartilage was harvested from conchal bowl. It was carved to two boomerang-shaped structures which then sutured to each other (Fig. 3a). Right scroll area was released by dissection. The right lateral crus was reconstructed by cartilage obtained from resected cephalic part of left lateral crus to match the curvature of alae, achieving comparable symmetry (Fig. 3b). Right medial crus area reconstruction was done by caudal extension graft prepared from conchal cartilage which also stabilized columella and helped in tip projection (Fig. 3c). Interdomal sutures were taken (Fig. 2b). Tip refinement and dorsal augmentation were achieved by alloderm. After complete hemostasis, skin flap was resutured. Postoperative period was uneventful. The patient was satisfied with breathing and cosmetic appearance of the nose.

Fig. 1.

Pre-operative (a) and postoperative (b) 12 months follow up images of the patient (39 years/female). The postoperative results show better nostrils, adequate tip projection, and improved alar contour. The difference in the shape of nostrils is due to smaller soft tissue envelope on the right side because of congenital absence of lower lateral cartilage

Fig. 2.

Intraoperative picture showing the absence of right lower lateral cartilage (a) and its reconstruction (b) with a cephalic resected portion of left lower lateral cartilage

Fig. 3.

a Conchal cartilage carved into two boomerang-shaped structures and sutured together. b Reconstruction of right lateral crura with a cephalic resected portion of left lower lateral cartilage. c Reconstruction of right medial crura by conchal cartilage, which is used as caudal extension graft

Discussion

Congenital nasal deformities are classified into four types. These are (1) hypoplasia and atrophy, (2) hyperplasia and duplications, (3) Craniofacial clefts, (4) neoplasms and vascular anomalies [8]. Our case comes under Type 1. Isolated congenital deficiencies of the alar cartilages can be visible at birth e.g. cleft of alar rim or can be occult [4]. They can present in late adulthood if structural abnormality becomes visible during process of facial maturation [1]. In our case, the patient presented with cosmetic deformity and finding was unexpected during the surgery.

Taking embryology into consideration, nasal development takes place during third to tenth weeks of gestation when neural crest cells migrate to frontonasal facial prominence and form olfactory placodes. These undergo central invagination around which mesenchymal proliferation occurs and forms medial and lateral nasal prominences. Their fusion gives rise to nostrils. The alar cartilages take their origins from both prominences as medial nasal prominence gives rise to medial crura while the lateral nasal prominence to lateral crura of the alar cartilages [8].

The embryological insult occurring in early fetal life leads to the congenital defects [13]. Failure of the medial and lateral nasal process to grow, abnormal migration of neural crest cells or overdevelopment and early fusion in the medial nasal processes postulated for underdevelopment of nose [1]. Lewin et al. proposed the role of teratogen in isolated congenital anomalies. He postulated, as the cellular differentiation and proliferation of mesenchymal element patterns are selective in different parts of the nose and their timing varies, during the critical time of its peak development, a morphologic unit is most susceptible to a teratogen. Teratogen introduced later which is critical period for columellar development, may selectively arrest the cellular penetration and chondrification of this structure only [15]. Adelson et al. [2] proposed that, vascular accident or local pressure phenomenon may lead to isolated loss of the lower lateral cartilages sometime after fusion of mesenchymal components which is completed by the 10th week of gestation [2]. According to the recent development, Kosins et al. [4] proposed that perturbation of growth factor signaling (by gene manipulations or teratogen exposure), affects the nasal capsule development. Before the seventh week, perturbations lead to severe malformations or a complete absence of structures derived from the medial and lateral nasal prominences. After the seventh week of development, cranial neural crest cells begin their differentiation into chondrocytes, and perturbations at this stage like embryonic disruptions in Hedgehog signaling can result in an arrest in chondrogenic differentiation leading to incomplete cartilaginous structures such as the divisions, gaps, and segmental losses in alar crura [4].

Thus we can speculate that either genetic perturbation before seventh week of gestation, vascular or local compression, exposure to teratogen at critical period can lead to isolated absence of lower lateral cartilage. Further study on embryology can make picture clearer.

The surgical repair of alar deformity depends on the extent of deformity and available reconstruction options. In case reports with isolated aplasia of alar cartilage, use of septal cartilage alone [2, 5] and septal plus conchal cartilage [3, 6] is reported. Temiz et al. [7] used septal cartilage and dorsal hump material for reconstruction. In hypoplasia cases conchal cartilage [1, 8, 14] and septal cartilage use for reconstruction noted [5, 9, 10] Diver et al. [13] used costal cartilage. Helical composite graft was used by Coban et al. [14] in addition to free conchal cartilage graft to reconstruct the columellar region. Kosins et al. [4] used an interposition graft of excised alar cartilage to repair the defect in alar cartilage. Open as well as closed approach was used in previous cases and septal extension graft, columellar strut graft, lateral crural strut graft were the commonly used reconstructive techniques with interdomal and intradomal sutures for tip region.

In our case, we did not harvest septal cartilage. Septum is key structure of nose providing support. For total reconstruction of alar cartilage, we needed longer length of cartilage. Also, septal cartilage is less elastic for bending and its scoring can break it [7]. Thus right lateral crura was reconstructed by cephalic resected portion of left alar cartilage (Fig. 3b). Due to its natural curved shape we could achieved a similar contour as left side. The right medial crura and columellar region were reconstructed with caudal extension graft using conchal cartilage (Fig. 3c). Though auricular graft is softer than septal or costal cartilage [8], we used two boomerang-shaped cartilage pieces sutured together leaving perichondrium intact which provided adequate strength to the columella (Fig. 3a). It also helped in improvement of nasolabial angle and tip projection. Thus we successfully achieved widened external nostrils, adequate tip projection and improved alar contour (Fig. 1b).

Conclusion

Being extremely rare, the congenital nasal anomalies involving lower lateral cartilages can present unexpectedly during the surgery. Thus, knowledge of this entity will prepare the surgeon to reconstruct the defect whenever encountered. These cases should be reported to increase the awareness of the condition and knowledge of available reconstructive options. Further work at embryonic development of alar cartilages can bring more light to the pathogenesis of congenital alar anomalies.

Funding

No funds were received in support of this work. No benefits in any form have been or will be received from a commercial party related directly or indirectly to the subject of this manuscript.

Compliance with Ethical Standards

Conflict of interest

Authors declare that they have no conflict of interest.