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A case report of congenital arhinia and literature review
International Journal of Pediatric Otorhinolaryngology Extra (2007) 2, 238—242
www.elsevier.com/locate/ijporl
CASE REPORT
A case report of congenital arhinia and literature review Tsvetan Marinov a,*, Petar Rouev b, Youri Anastassov c, Philippe Pellerin d, Katja Kovacheva e, Maxim Jonov f a
Department of Otorhinolaryngology, Medical University Pleven, St. Kliment Ohridski Str. Nr. 1, 5800 Pleven, Bulgaria b Clinic of Otorhinolaryngology, Medical Faculty, Thracian University Stara Zagora, Bulgaria c Plastic and Craniofacial Clinic, Medical University Plovdiv, Bulgaria d Department of Plastic Surgery, University Hospital Lille, France e Department of Medical Genetics, Medical University Pleven, Bulgaria f Clinic of Neonatology, Medical University Pleven, Bulgaria Received 25 March 2007; received in revised form 19 July 2007; accepted 19 July 2007 Available online 17 September 2007
KEYWORDS Congenital total arhinia; External nose; Nasal and paranasal cavities; Newborn infant; Abnormalities and anomalies
Summary We report about a boy with congenital total arhinia and coloboma of the iris. The newborn had complete absence of external nose, nasal and paranasal cavities, with that area being flat with some elevation and firm on palpation. Congenital arhinia is a rare developmental abnormality characterised by lack of the formation of external and internal nasal structures. Since there were no lifethreatening complications a tracheotomy was not performed on this newborn. Airway support with oropharyngeal tube was made and the feeding of the child was through an orogastral tube. The child learned to breathe and to eat through the mouth and at age of 3 years a reconstruction of the external nose was performed. Description of the treatment, embryological aspect and a literature review is made to suggest guidelines for the management of such cases. # 2007 Elsevier Ireland Ltd. All rights reserved.
1. Introduction Congenital absence of the nose is an extremely rare anomaly, which most often presents to the otorhinolaryngologist. Arhinia is a malformation in the middle third of the face, frequently associated with anomalies of the central nervous system and the * Corresponding author. E-mail address: [email protected] (T. Marinov).
body with different range of severity and high range of mortality. Arhinia is the congenital absence not only of the external nose, but absence of the nasal cavities and absence of the olfactory apparatus [1]. Absence of the nose leads to severe compromise of the breathing and problems with the feeding of the newborn. The dyspnea often demands performing a tracheotomy [2,3]. In order to find the degree of the severity of the malformation an imaging workshop must be done–—CT, MRI, ultrasound investigation of
1871-4048/$ — see front matter # 2007 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.pedex.2007.07.002
A case of congenital total arhinia
Fig. 1 The profile photograph shows newborn with arhinia.
the abdomen, the heart, etc. We present an unusual case of congenital arhinia with later surgical treatment in a 3-year-old boy.
2. Case report A full-term boy was born via an uncomplicated vaginal delivery with 3100 g body weight and height 50 cm. The child was normocephalic, with a head circumference of 34 cm, and both fontanels were patent and flat. Prenatal care including ultrasound findings were normal. At birth, the baby showed complete absence of nasal bones, and the place of the piriform aperture was covered with skin and firm bony plate, and a high-arched palate combined with hypertelorism and coloboma of the iris. Owing to severe respiratory difficulty an oral air tube was introduced. Axial CTscan images showed an absence of the nasal and paranasal cavities; the noncontrast CT findings in the brain were normal (Figs. 1—3).
Fig. 2
The face photograph shows newborn with arhinia.
239 The degree of nasal absence varies from case to case. In our case there was a thick bone plate in the place of the nostrils, the hard palate was well formed but it was located high and arched superiorly. The child learned quickly to breathe through the mouth and on the 10th day the oral airway was removed; the baby was fed through an orogastral tube. The parents gave up the child and he was settled in an orphanage institution. At the age of 3 years the child was in good physical and mental condition with normal intelligence (Fig. 4). At that age a reconstruction of the external nose was performed. The operation was performed and an oblique forehead flap was employed and rib cartilage was used (Figs. 5 and 6). A photograph of the child 9 months after the operation shows postoperative cosmetic result (Fig. 7).
3. Discussion Several reviews of arhinia literature have been reported. Cohen and Goitein reported a total literature survey of 12 cases of total arhinia [4]. Since 1987 we have find out other 17 cases of total arhinia in the literature, which makes the number of all reported cases 29. Embriologycal aspects: the formation of the face is preceded by wavelike migrations of cranial neural crest cells from the region of the trigeminal nerves to the face [5]. These cells establish the mesodermal elements that later developed into the face. Development of the nose and its cavities occurs between 3 and 10 weeks of life [5]. At 24 days of life, the face consists of a superior frontal process, paired bilateral mandibular processes caudal [6]. The maxillary and mandibular processes are separated by the primitive mouth (stomatodeum) [5]. The nasal alae are formed by fusion of the nasal lateral and medial processes [6]. The medial nasal processes fuse in the midline with the frontal prominence and result in the formation of the frontonasal process that gives origin to the columella, philtrum, upper lip, nasal bones, cartilaginous nasal capsule, and superior alveolar ridge [6]. The nasal placodes, which are local thickenings of surface ectoderm, develop laterally to form the frontal process between the lateral and medial nasal processes during the 4th week of life [5]. The nasal placodes invaginate to form the nasal pits during the 5th week of life. The nasal pits form the nostrils. Deeper within the face, fusion of the maxillary and frontal processes forms the rudimentary palatal shelves at 6 weeks of life. Cells within the nasal pits continue to migrate posteriorly to form the buccal cavity by the rudimentary palatal shelves
240
T. Marinov et al.
Fig. 3
CT scan shows complete absence of nasal and paranasal cavities.
[7]. By the 9th week of life, the cartilaginous nasal septum, which results from persistence of neural crest cells between the nasal cavities, directly overlies the buccal cavity [7]. The palatal shelves of the maxillae migrate medially as the septum migrates inferiorly. By the 10th week of life, the palatal shelves and the inferior septum fuse to form the secondary palate [5]. At this point, the posterior nasal cavities are separated from the buccal cavity by the bucconasal membrane. This membrane ruptures, establish-
Fig. 4
Preoperative photograph.
ing communication between the nasal and buccal cavities. The primary choanae which are formed as the nasal cavities canalise, are promptly filled by epithelial plugs. These plugs eventually resorb to form the secondary (permanent) choanae and establish the patency of the nasal cavities [7]. It has been traditionally accepted that the epithelial plugs are present until the 24th week of life [5]. However, other evidence suggests that these plugs may actually resorb as early as the 15th week of life [7].
Fig. 5 Intraoperative photograph shows the planned intervention.
A case of congenital total arhinia
Fig. 6
Final intraoperative photograph.
The pathogenesis of arhinia is poorly understood. It has been postulated that the lack of development of the nose results from failure of the medial and lateral nasal processes to grow, but it is also possible that overgrowth and premature fusion of the nasal medial processes result in formation of an atretic plate. Arhinia may also result from lack of resorption of the nasal epithelial plugs during the 13th—15th week of gestation. Another explanation may be related to abnormal migration of neural crest cells to this region, resulting in aberrant flow of the multiple mesoderm structures required establishing the nose and its cavities normally [3]. In a review by Nishimura [7], 14 published cases of congenital absence of the nose were summarised. Subsequently, Nothen et al. [8] and Muhlbauer et al. [9] have reported additional cases of arhinia. The patient described by Muhlbauer et al. [9] had arhinia in conjunction with hereditary syndrome of multiple congenital abnormalities, including alobar holoprosencephaly and cleft lip and palate [9]. The association between arhinia and cleft lip and palate is well
241 established [7]. One reported case of arhinia was associated with microphthalmia on the right and anophthalmia on the left [11]. Two previously reported patients had chromosome 9 abnormalities [8]. One child had Treacher-Collins-Syndrome and arhinia [12]. The remaining patients had no associated congenital malformations and were otherwise healthy [9,12]. The clinical consequences of congenital arhinia are severe airway obstruction and inability to feed. Placement of an oral airway should be performed in an acute setting [13]. A surgically created nasal airway or a tracheotomy is an important part of early management, as either allows the infant to feed orally and precludes the complications associated with orogastric tubes [14]. Most authors agree that surgical reconstruction of the external nose and inner cavities should be delayed at least until pre-school years, when facial development is nearly completed [9,10,15]. One case has been reported in which simultaneous reconstruction of both the internal and external nose was undertaken in the new-born period [8]. This article presents a case of congenital arhinia associated with facial anomalies and external nose reconstruction. Since there were no life-threatening anomalies and complications the child survived and we could follow him up. It is highly likely that this case might have been the result of the failure of medial and lateral nasal processes to grow, which was the underlying pathogenesis. Restricted midfacial growth is secondary to the loss of the midfacial growth centers. Staged reconstruction of external nose and the nasal passage is required. Vertical distraction osteogenesis may be a beneficial step in the overall reconstructive program [13]. This provides for additional bone and soft tissue for both improved aesthetic facial proportions and later surgical procedures. In our case the external nose was constructed during with a forehead flap and a rib graft [16]. The nasal cavities would be drilled out and lined in the second stage. In a third stage, the cavities would be amplified, and silicone tubes introduced for at least 1 year [5,17].
References
Fig. 7
Postoperative photograph.
[1] T.L. Tewfik, A.S. Fahad, A. Yoskovitch. Congenital malformations, nose, eMedicine: http://www.emedicine.com/ENT/ topic320.html (last updated: June 12, 2006). [2] N.N. Mathur, N.K. Dubey, S. Kumar, R. Bothra, A. Chandha, Arhinia, Int. J. Pediatr. Otorhinolaryngol. 69 (1) (2005) 97—99. [3] V.S. Albernaz, M. Castillo, S.K. Mukherji, I.H. Ihmedeidan, Congenital arhinia, Am. J. Neuroradiol. 17 (7) (1996) 1312— 1314. [4] D. Cohen, K. Groiten, Arhinia revisited, Rhinology 25 (1987) 237—242.
242 [5] K.J. Lee, Embryology of Clefts and Pouches: Essential Otolaryngology Head and Neck Surgery, 3rd ed., Medical Examination Publishing, New York, NY, 1983, 304-6. [6] M. Castillo, Congenital abnormalities of the nose: CTand MRI findings, Am. J. Roentgenol. 162 (1994) 1211—1217. [7] Y. Nishimura, Embryological study of nasal cavity development in human embryos with reference to congenital nostril atresia, Acta Anal. (Basel) 147 (1993) 140—144. [8] M.M. Nothen, G. Knopile, H.J. Fodish, K. Zerres, Steinfeld syndrome: report of a second family and further delineation of a rare autosomal dominant disorder, Am. J. Med. Genet. 46 (1993) 467—470. [9] W. Muhlbauer, A. Schmirt, J. Fairley, Simultaneous construction of an internal and external nose in an infant with arhinia, Plast. Reconstr. Surg. 91 (1993) 720—725. [10] A. Weinberg, A. Neuman, P. Benmeir, S. Lusthaus, M.R. Exler, A rare case of arhinia with severe airway obstruction: case report and review of the literature, Plast. Reconstr. Surg. 91 (1993) 146—149.
T. Marinov et al. [11] R.R. Cole, C.M. Myer, G.O. Bratcher, Congenital absence of the nose: a case report, J. Pediatr. Otorhinolaryngol. 17 (1989) 171—177. [12] M. Hansen, M.J. Lucarelli, D.A. Whiteman, J.B. Mulliken, Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas, Am. J. Med. Genet. 6 (1) (1996) 71—74. [13] J.A. Feledy, C.M. Goodman, T. Taylor, S. Stal, B. Smith, I. Hollier, Vertical facial distraction in the treatment of arhinia, Plast. Reconstr. Surg. 113 (7) (2004) 2061—2066. [14] L. McGlone, Congenital arhinia, J. Paediatr. Child Health 39 (6) (2003) 474—476. [15] O.E. Olsen, K. Gjeiiand, H. Reigstad, K. Rosendahl, Congenital absence of the nose: a case report and literature review, Pediatr. Radiol. 31 (4) (2001) 225—232. [16] Y. Anastassov, Congenital faces anomalies, Plovdiv (2006) 25. [17] R. Meyer, Total external and internal construction in arhinia, Plast. Reconstr. Surg. 99 (2) (1997) 534—542.
www.elsevier.com/locate/ijporl
CASE REPORT
A case report of congenital arhinia and literature review Tsvetan Marinov a,*, Petar Rouev b, Youri Anastassov c, Philippe Pellerin d, Katja Kovacheva e, Maxim Jonov f a
Department of Otorhinolaryngology, Medical University Pleven, St. Kliment Ohridski Str. Nr. 1, 5800 Pleven, Bulgaria b Clinic of Otorhinolaryngology, Medical Faculty, Thracian University Stara Zagora, Bulgaria c Plastic and Craniofacial Clinic, Medical University Plovdiv, Bulgaria d Department of Plastic Surgery, University Hospital Lille, France e Department of Medical Genetics, Medical University Pleven, Bulgaria f Clinic of Neonatology, Medical University Pleven, Bulgaria Received 25 March 2007; received in revised form 19 July 2007; accepted 19 July 2007 Available online 17 September 2007
KEYWORDS Congenital total arhinia; External nose; Nasal and paranasal cavities; Newborn infant; Abnormalities and anomalies
Summary We report about a boy with congenital total arhinia and coloboma of the iris. The newborn had complete absence of external nose, nasal and paranasal cavities, with that area being flat with some elevation and firm on palpation. Congenital arhinia is a rare developmental abnormality characterised by lack of the formation of external and internal nasal structures. Since there were no lifethreatening complications a tracheotomy was not performed on this newborn. Airway support with oropharyngeal tube was made and the feeding of the child was through an orogastral tube. The child learned to breathe and to eat through the mouth and at age of 3 years a reconstruction of the external nose was performed. Description of the treatment, embryological aspect and a literature review is made to suggest guidelines for the management of such cases. # 2007 Elsevier Ireland Ltd. All rights reserved.
1. Introduction Congenital absence of the nose is an extremely rare anomaly, which most often presents to the otorhinolaryngologist. Arhinia is a malformation in the middle third of the face, frequently associated with anomalies of the central nervous system and the * Corresponding author. E-mail address: [email protected] (T. Marinov).
body with different range of severity and high range of mortality. Arhinia is the congenital absence not only of the external nose, but absence of the nasal cavities and absence of the olfactory apparatus [1]. Absence of the nose leads to severe compromise of the breathing and problems with the feeding of the newborn. The dyspnea often demands performing a tracheotomy [2,3]. In order to find the degree of the severity of the malformation an imaging workshop must be done–—CT, MRI, ultrasound investigation of
1871-4048/$ — see front matter # 2007 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.pedex.2007.07.002
A case of congenital total arhinia
Fig. 1 The profile photograph shows newborn with arhinia.
the abdomen, the heart, etc. We present an unusual case of congenital arhinia with later surgical treatment in a 3-year-old boy.
2. Case report A full-term boy was born via an uncomplicated vaginal delivery with 3100 g body weight and height 50 cm. The child was normocephalic, with a head circumference of 34 cm, and both fontanels were patent and flat. Prenatal care including ultrasound findings were normal. At birth, the baby showed complete absence of nasal bones, and the place of the piriform aperture was covered with skin and firm bony plate, and a high-arched palate combined with hypertelorism and coloboma of the iris. Owing to severe respiratory difficulty an oral air tube was introduced. Axial CTscan images showed an absence of the nasal and paranasal cavities; the noncontrast CT findings in the brain were normal (Figs. 1—3).
Fig. 2
The face photograph shows newborn with arhinia.
239 The degree of nasal absence varies from case to case. In our case there was a thick bone plate in the place of the nostrils, the hard palate was well formed but it was located high and arched superiorly. The child learned quickly to breathe through the mouth and on the 10th day the oral airway was removed; the baby was fed through an orogastral tube. The parents gave up the child and he was settled in an orphanage institution. At the age of 3 years the child was in good physical and mental condition with normal intelligence (Fig. 4). At that age a reconstruction of the external nose was performed. The operation was performed and an oblique forehead flap was employed and rib cartilage was used (Figs. 5 and 6). A photograph of the child 9 months after the operation shows postoperative cosmetic result (Fig. 7).
3. Discussion Several reviews of arhinia literature have been reported. Cohen and Goitein reported a total literature survey of 12 cases of total arhinia [4]. Since 1987 we have find out other 17 cases of total arhinia in the literature, which makes the number of all reported cases 29. Embriologycal aspects: the formation of the face is preceded by wavelike migrations of cranial neural crest cells from the region of the trigeminal nerves to the face [5]. These cells establish the mesodermal elements that later developed into the face. Development of the nose and its cavities occurs between 3 and 10 weeks of life [5]. At 24 days of life, the face consists of a superior frontal process, paired bilateral mandibular processes caudal [6]. The maxillary and mandibular processes are separated by the primitive mouth (stomatodeum) [5]. The nasal alae are formed by fusion of the nasal lateral and medial processes [6]. The medial nasal processes fuse in the midline with the frontal prominence and result in the formation of the frontonasal process that gives origin to the columella, philtrum, upper lip, nasal bones, cartilaginous nasal capsule, and superior alveolar ridge [6]. The nasal placodes, which are local thickenings of surface ectoderm, develop laterally to form the frontal process between the lateral and medial nasal processes during the 4th week of life [5]. The nasal placodes invaginate to form the nasal pits during the 5th week of life. The nasal pits form the nostrils. Deeper within the face, fusion of the maxillary and frontal processes forms the rudimentary palatal shelves at 6 weeks of life. Cells within the nasal pits continue to migrate posteriorly to form the buccal cavity by the rudimentary palatal shelves
240
T. Marinov et al.
Fig. 3
CT scan shows complete absence of nasal and paranasal cavities.
[7]. By the 9th week of life, the cartilaginous nasal septum, which results from persistence of neural crest cells between the nasal cavities, directly overlies the buccal cavity [7]. The palatal shelves of the maxillae migrate medially as the septum migrates inferiorly. By the 10th week of life, the palatal shelves and the inferior septum fuse to form the secondary palate [5]. At this point, the posterior nasal cavities are separated from the buccal cavity by the bucconasal membrane. This membrane ruptures, establish-
Fig. 4
Preoperative photograph.
ing communication between the nasal and buccal cavities. The primary choanae which are formed as the nasal cavities canalise, are promptly filled by epithelial plugs. These plugs eventually resorb to form the secondary (permanent) choanae and establish the patency of the nasal cavities [7]. It has been traditionally accepted that the epithelial plugs are present until the 24th week of life [5]. However, other evidence suggests that these plugs may actually resorb as early as the 15th week of life [7].
Fig. 5 Intraoperative photograph shows the planned intervention.
A case of congenital total arhinia
Fig. 6
Final intraoperative photograph.
The pathogenesis of arhinia is poorly understood. It has been postulated that the lack of development of the nose results from failure of the medial and lateral nasal processes to grow, but it is also possible that overgrowth and premature fusion of the nasal medial processes result in formation of an atretic plate. Arhinia may also result from lack of resorption of the nasal epithelial plugs during the 13th—15th week of gestation. Another explanation may be related to abnormal migration of neural crest cells to this region, resulting in aberrant flow of the multiple mesoderm structures required establishing the nose and its cavities normally [3]. In a review by Nishimura [7], 14 published cases of congenital absence of the nose were summarised. Subsequently, Nothen et al. [8] and Muhlbauer et al. [9] have reported additional cases of arhinia. The patient described by Muhlbauer et al. [9] had arhinia in conjunction with hereditary syndrome of multiple congenital abnormalities, including alobar holoprosencephaly and cleft lip and palate [9]. The association between arhinia and cleft lip and palate is well
241 established [7]. One reported case of arhinia was associated with microphthalmia on the right and anophthalmia on the left [11]. Two previously reported patients had chromosome 9 abnormalities [8]. One child had Treacher-Collins-Syndrome and arhinia [12]. The remaining patients had no associated congenital malformations and were otherwise healthy [9,12]. The clinical consequences of congenital arhinia are severe airway obstruction and inability to feed. Placement of an oral airway should be performed in an acute setting [13]. A surgically created nasal airway or a tracheotomy is an important part of early management, as either allows the infant to feed orally and precludes the complications associated with orogastric tubes [14]. Most authors agree that surgical reconstruction of the external nose and inner cavities should be delayed at least until pre-school years, when facial development is nearly completed [9,10,15]. One case has been reported in which simultaneous reconstruction of both the internal and external nose was undertaken in the new-born period [8]. This article presents a case of congenital arhinia associated with facial anomalies and external nose reconstruction. Since there were no life-threatening anomalies and complications the child survived and we could follow him up. It is highly likely that this case might have been the result of the failure of medial and lateral nasal processes to grow, which was the underlying pathogenesis. Restricted midfacial growth is secondary to the loss of the midfacial growth centers. Staged reconstruction of external nose and the nasal passage is required. Vertical distraction osteogenesis may be a beneficial step in the overall reconstructive program [13]. This provides for additional bone and soft tissue for both improved aesthetic facial proportions and later surgical procedures. In our case the external nose was constructed during with a forehead flap and a rib graft [16]. The nasal cavities would be drilled out and lined in the second stage. In a third stage, the cavities would be amplified, and silicone tubes introduced for at least 1 year [5,17].
References
Fig. 7
Postoperative photograph.
[1] T.L. Tewfik, A.S. Fahad, A. Yoskovitch. Congenital malformations, nose, eMedicine: http://www.emedicine.com/ENT/ topic320.html (last updated: June 12, 2006). [2] N.N. Mathur, N.K. Dubey, S. Kumar, R. Bothra, A. Chandha, Arhinia, Int. J. Pediatr. Otorhinolaryngol. 69 (1) (2005) 97—99. [3] V.S. Albernaz, M. Castillo, S.K. Mukherji, I.H. Ihmedeidan, Congenital arhinia, Am. J. Neuroradiol. 17 (7) (1996) 1312— 1314. [4] D. Cohen, K. Groiten, Arhinia revisited, Rhinology 25 (1987) 237—242.
242 [5] K.J. Lee, Embryology of Clefts and Pouches: Essential Otolaryngology Head and Neck Surgery, 3rd ed., Medical Examination Publishing, New York, NY, 1983, 304-6. [6] M. Castillo, Congenital abnormalities of the nose: CTand MRI findings, Am. J. Roentgenol. 162 (1994) 1211—1217. [7] Y. Nishimura, Embryological study of nasal cavity development in human embryos with reference to congenital nostril atresia, Acta Anal. (Basel) 147 (1993) 140—144. [8] M.M. Nothen, G. Knopile, H.J. Fodish, K. Zerres, Steinfeld syndrome: report of a second family and further delineation of a rare autosomal dominant disorder, Am. J. Med. Genet. 46 (1993) 467—470. [9] W. Muhlbauer, A. Schmirt, J. Fairley, Simultaneous construction of an internal and external nose in an infant with arhinia, Plast. Reconstr. Surg. 91 (1993) 720—725. [10] A. Weinberg, A. Neuman, P. Benmeir, S. Lusthaus, M.R. Exler, A rare case of arhinia with severe airway obstruction: case report and review of the literature, Plast. Reconstr. Surg. 91 (1993) 146—149.
T. Marinov et al. [11] R.R. Cole, C.M. Myer, G.O. Bratcher, Congenital absence of the nose: a case report, J. Pediatr. Otorhinolaryngol. 17 (1989) 171—177. [12] M. Hansen, M.J. Lucarelli, D.A. Whiteman, J.B. Mulliken, Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas, Am. J. Med. Genet. 6 (1) (1996) 71—74. [13] J.A. Feledy, C.M. Goodman, T. Taylor, S. Stal, B. Smith, I. Hollier, Vertical facial distraction in the treatment of arhinia, Plast. Reconstr. Surg. 113 (7) (2004) 2061—2066. [14] L. McGlone, Congenital arhinia, J. Paediatr. Child Health 39 (6) (2003) 474—476. [15] O.E. Olsen, K. Gjeiiand, H. Reigstad, K. Rosendahl, Congenital absence of the nose: a case report and literature review, Pediatr. Radiol. 31 (4) (2001) 225—232. [16] Y. Anastassov, Congenital faces anomalies, Plovdiv (2006) 25. [17] R. Meyer, Total external and internal construction in arhinia, Plast. Reconstr. Surg. 99 (2) (1997) 534—542.