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Congenital partial arhinia with no associated malformations
International Journal of Pediatric Otorhinolaryngology Extra (2009) 4, 162—164
www.elsevier.com/locate/ijporl
CASE REPORT
Congenital partial arhinia with no associated malformations ´ndez-Gallart a,*, Manuel Garrido-Valenzuela b, Roberto Me Adolfo Bautista-Casasnovas a, Elina Estevez-Martı´nez a a
Department of Pediatric Surgery, University Hospital of Santiago, Avda. Choupana s/n., 15706 Santiago de Compostela, Spain b Department of Pediatric Surgery, Complexo Hospitalario de Ourense, Ourense, Spain Received 18 August 2008; received in revised form 1 December 2008; accepted 2 December 2008 Available online 19 January 2009
KEYWORDS Arhinia; Nose defects; Midface hypoplasia; Congenital malformation; Nasal agenesis
Summary Congenital absence of the nose is an extremely infrequent congenital malformation with less than 40 cases reported previously in the literature. Only three cases of partial arhinia have been reported. It is commonly seen associated with other central nervous system and craniofacial malformations. Somatic anomalies have been reported in more than 50% of cases. Severe airway, feeding and phonetic problems may accompany this pathology in children. We describe a case of complete heminose agenesis and absence of the ipsilateral nasal fossae, without other congenital malformations. # 2008 Elsevier Ireland Ltd. All rights reserved.
1. Introduction Congenital absence of the nose, also called arhinia is a very uncommon anomaly. Less than 40 cases have been reported in the available literature, most of them defined as complete arhinia [1—4]. This pathology is usually found associated with other malformations affecting central nervous system, craniofacial, ear defects, and palatal clefts. Severe airway, feeding and phonetic problems are usually accompanying this pathology in children [5]. High mortality rate is commonly associated with this * Corresponding author. Tel.: +34 981950132; fax: +34 981950133. E-mail address: [email protected] (R. Me ´ndez-Gallart).
congenital malformation. We report herein an extremely rare case of a congenital absence of the heminose in a 1-year-old girl with no other associated anomalies. To the best of our knowledge this is the first case of heminose agenesis with no associated malformations to be reported in the carefully reviewed literature.
2. Case presentation A full-term girl first born of a healthy 22-year-old mother was delivered vaginally after an uneventful pregnancy with no reported antenatal problems in obstetrical sonographies. There was no consanguinity or familial history of congenital malformations. The mother had no history of drug, smoke or chemical
1871-4048/$ — see front matter # 2008 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.pedex.2008.12.002
Congenital partial arhinia intake or exposure to radiation and she had no significant affections during pregnancy. On physical inspection the left nostril was completely absent (Fig. 1). A rudimentary lower lateral cartilage was present in the left side of the nose. Right aspect of the nose was normal in shape and function (Fig. 2). CT scan showed absence of the nasal airway passages on the left side included paranasal structures, maxillary sinus, pyriform aperture, ethmoidal cells and posterior choana with normal septum but no turbinates. Soft tissue and a thick bony atretic plate filled the rudimentary left heminose in place of the nostrils. Rest of the midface, palate and maxilla was normal. No other ophthalmologic, craniofacial or somatic
Fig. 1
Infant showing partial arhinia (lateral view).
Fig. 2 Inferior view clearly showing the heminose agenesis with soft tissue filling the rudimentary left nostril.
163 associated malformations were noticed. Mental development and neurological assessment was considered normal. It was decided according with parents, to delay surgical correction of the nose until the patient reaches 7 years of age.
3. Discussion Arhinia is defined as congenital absence of the external nose, nasal cavities, and olfactory apparatus. Phenotypic expression ranges from hyporhinia, manifested by the lack of external nasal structures, to total arhinia, characterized by a failure of formation of the external nose, nasal airways, olfactory bulbs, and olfactory nerve. Arhinia is clearly evident at birth, with only a depression located between the eyes (at the normal position of the external nose). Since neonates are nasal breathers, respiratory distress is usually noticed in cases of complete arhinia. The maxilla is underdeveloped and a cleft palate is frequent. Given the rarity of this condition, there is a paucity of studies documenting the characteristic appearance of this anomaly on physical examination and radiological imaging. Almost all the reported cases of arhinia were diagnosed at birth. Only two cases of total arhinia [2,6] were detected on prenatal sonography [2]. This infrequent entity is almost always associated with anomalies of the ocular and central nervous systems like choanal atresia, microphtalmia, cleft palate, hypertelorism, mental retardation, absence of corpus callosum, encephalocele, cardiac malformations and other midline defects. These associated congenital anomalies determine the immediate and long-term outcome [2,3]. Cohen and Goitein in 1987 provided a clear classification of arhinia: in total arhinia the entire nose and olfactory bulbs are lacking whereas in partial arhinia at least one nostril and olfactory nerve is present [4]. In this definition, proboscis lateralis is not included because this entity is considered as a nasal fusion defect, not an embryological defect of the nasal placodes. Arhinia constitutes an extremely rare defect of embryogenesis, with only 36 cases previously reported [1,2,4]. To the best of our knowledge this is one of the three rare cases of its kind to be reported in literature defined as hemiarhinia [7— 9]. It is significant because this malformation is unilateral and is present in an otherwise normal developed child in opposition to the previously reported cases associated with other anomalies in reviewed literature. Aetiology of arhinia is unknown. Pathogenesis of this pathology is not clearly understood. Compre-
164
R. Me ´ndez-Gallart et al.
hension of the mechanism of arhinia should be based on the study of normal embryology. As a general rule it is obvious that the more gross the abnormality the earlier in embryonic life it arose. Embryological development of the nose occurs between the 3rd and 10th weeks of gestation. Nasal placoda appears as local thickening of the ectoderm and develop from the frontal process advancing laterally between the medial and lateral nasal processes. The nasal placoda invaginate at the 5th-week to form the nasal nuclei. Nostrils develop from the nasal nuclei. The nasal nuclei migrate posteriorly to form the nasal cavities. Meanwhile, the oral and nasal cavities are separated by membranes that will rupture at the 7th to 8th weeks to form the posterior nares. The nasal septum develops at the 9th-week when the palate and inferior septum unite and form the secondary palate [5,7]. The most accepted proposed mechanism may be a developmental failure at 4—5th gestation’ weeks of the nasal placoda migration to form the nasal lateral processes or overdevelopment and early fusion in the medial nasal processes Arrest of absorption of the nasal epithelial plates at the 13th through the 15th-week may be another possible explanation [4,7]. Most reported cases are sporadic but two familial cases were published [1]. An autosomal recessive and autosomal dominant with reduced penetrance mode of inheritance was proposed, respectively, in these particular cases. Normal karyotype is the usual finding in most cases but molecular genetic study of some cases of arhinia has demonstrated inversion and trisomy of chromosome 9 and other deletions in chromosome 3 in sporadic cases [1,4]. Surgical repair is staged, but there is controversy about adequate timing and procedure. Respiratory insufficiency is a potentially life-threatening condition in cases of total arhinia and requires a surgical creation of a nasal airway in neonatal period, commonly a tracheostomy [9]. Most authors agree that surgical correction should be delayed until an approximate age of 6 years when facial development is nearly complete [10]. Secondary surgical revisions are common and usually performed near puberty. The surgical approach creates new nasal cavities and an external nose using glabelar flaps and autologous cartilage grafts. According to other
reports, three factors should be considered before perform surgical reconstruction of the nose in childhood. First, the size of the reconstructed nose should be overestimated; second, a later rhinoplasty is always necessary and therefore, potential forehead tissue must be preserved for this secondary approach [7,8,10].
4. Conclusion Congenital absence of the heminose or partial arhinia is an extremely uncommon entity with only three cases previously reported usually associated with other craniofacial and somatic malformations. Heminose reconstruction during childhood is a surgical challenge. Because of infrequent of this pathology, management controversies regarding timing and surgical technique still persist.
References [1] D. Sato, O. Shimokawa, N. Harada, O.E. Olsen, J.W. Hou, W. Muhlbauer, E. Blinkenberg, N. Okamoto, A. Kinoshita, N. Matsumoto, S. Kondo, T. Kishino, N. Miwa, T. Ariga, N. Niikawa, K. Yoshimura, Congenital arhinia: moleculargenetic analysis of five patients, Am. J. Med. Genet. 143A (2007) 546—552. [2] O.E. Olsen, K. Gjelland, H. Reigstad, K. Rosendahl, Congenital absence of the nose: a case report and literature review, Pediatr. Radiol. 31 (2001) 225—232. [3] V.S. Albernaz, M. Castillo, S.K. Mukherji, I.H. Ihmeidan, Congenital arhinia, AJNR 17 (1996) 1312—1314. [4] D. Cohen, K.J. Goitein, Arhinia revisited, Rhinology 25 (1987) 237—244. [5] L. McGlone, Congenital arhinia, J. Paediatr. Child Health 39 (2003) 474—476. [6] W. Cusik, C.A. Sullivan, B. Rojas, A.E. Poole, D.A. Poole, Prenatal diagnosis of total arhinia, Ultrasound. Obstet. Gynecol. 15 (2000) 259—261. [7] G. Akkuzu, B. Akkuzu, E. Aydin, M. Derbent, L. Ozluoglu, Congenital partial arhinia: a case report, J. Med. 1 (2007) 97 (Case reports). [8] P.S. Bhandari, Simultaneous and symmetrical reconstruction of heminose and restoration of nasal airway in congenital absence of heminose, Br. J. Plast. Surg. 57 (2004) 575—578. [9] M.H.A. Beg, Half nose, J. Laryngol. Otol. 98 (1984) 196—915. [10] T. Nagase, S. Kobayashi, K. Omhori, Achieving natural shading of the nostril in the reconstruction of a half nose, Br. J. Plast. Surg. 51 (1998) 131—134.
Available online at www.sciencedirect.com
www.elsevier.com/locate/ijporl
CASE REPORT
Congenital partial arhinia with no associated malformations ´ndez-Gallart a,*, Manuel Garrido-Valenzuela b, Roberto Me Adolfo Bautista-Casasnovas a, Elina Estevez-Martı´nez a a
Department of Pediatric Surgery, University Hospital of Santiago, Avda. Choupana s/n., 15706 Santiago de Compostela, Spain b Department of Pediatric Surgery, Complexo Hospitalario de Ourense, Ourense, Spain Received 18 August 2008; received in revised form 1 December 2008; accepted 2 December 2008 Available online 19 January 2009
KEYWORDS Arhinia; Nose defects; Midface hypoplasia; Congenital malformation; Nasal agenesis
Summary Congenital absence of the nose is an extremely infrequent congenital malformation with less than 40 cases reported previously in the literature. Only three cases of partial arhinia have been reported. It is commonly seen associated with other central nervous system and craniofacial malformations. Somatic anomalies have been reported in more than 50% of cases. Severe airway, feeding and phonetic problems may accompany this pathology in children. We describe a case of complete heminose agenesis and absence of the ipsilateral nasal fossae, without other congenital malformations. # 2008 Elsevier Ireland Ltd. All rights reserved.
1. Introduction Congenital absence of the nose, also called arhinia is a very uncommon anomaly. Less than 40 cases have been reported in the available literature, most of them defined as complete arhinia [1—4]. This pathology is usually found associated with other malformations affecting central nervous system, craniofacial, ear defects, and palatal clefts. Severe airway, feeding and phonetic problems are usually accompanying this pathology in children [5]. High mortality rate is commonly associated with this * Corresponding author. Tel.: +34 981950132; fax: +34 981950133. E-mail address: [email protected] (R. Me ´ndez-Gallart).
congenital malformation. We report herein an extremely rare case of a congenital absence of the heminose in a 1-year-old girl with no other associated anomalies. To the best of our knowledge this is the first case of heminose agenesis with no associated malformations to be reported in the carefully reviewed literature.
2. Case presentation A full-term girl first born of a healthy 22-year-old mother was delivered vaginally after an uneventful pregnancy with no reported antenatal problems in obstetrical sonographies. There was no consanguinity or familial history of congenital malformations. The mother had no history of drug, smoke or chemical
1871-4048/$ — see front matter # 2008 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.pedex.2008.12.002
Congenital partial arhinia intake or exposure to radiation and she had no significant affections during pregnancy. On physical inspection the left nostril was completely absent (Fig. 1). A rudimentary lower lateral cartilage was present in the left side of the nose. Right aspect of the nose was normal in shape and function (Fig. 2). CT scan showed absence of the nasal airway passages on the left side included paranasal structures, maxillary sinus, pyriform aperture, ethmoidal cells and posterior choana with normal septum but no turbinates. Soft tissue and a thick bony atretic plate filled the rudimentary left heminose in place of the nostrils. Rest of the midface, palate and maxilla was normal. No other ophthalmologic, craniofacial or somatic
Fig. 1
Infant showing partial arhinia (lateral view).
Fig. 2 Inferior view clearly showing the heminose agenesis with soft tissue filling the rudimentary left nostril.
163 associated malformations were noticed. Mental development and neurological assessment was considered normal. It was decided according with parents, to delay surgical correction of the nose until the patient reaches 7 years of age.
3. Discussion Arhinia is defined as congenital absence of the external nose, nasal cavities, and olfactory apparatus. Phenotypic expression ranges from hyporhinia, manifested by the lack of external nasal structures, to total arhinia, characterized by a failure of formation of the external nose, nasal airways, olfactory bulbs, and olfactory nerve. Arhinia is clearly evident at birth, with only a depression located between the eyes (at the normal position of the external nose). Since neonates are nasal breathers, respiratory distress is usually noticed in cases of complete arhinia. The maxilla is underdeveloped and a cleft palate is frequent. Given the rarity of this condition, there is a paucity of studies documenting the characteristic appearance of this anomaly on physical examination and radiological imaging. Almost all the reported cases of arhinia were diagnosed at birth. Only two cases of total arhinia [2,6] were detected on prenatal sonography [2]. This infrequent entity is almost always associated with anomalies of the ocular and central nervous systems like choanal atresia, microphtalmia, cleft palate, hypertelorism, mental retardation, absence of corpus callosum, encephalocele, cardiac malformations and other midline defects. These associated congenital anomalies determine the immediate and long-term outcome [2,3]. Cohen and Goitein in 1987 provided a clear classification of arhinia: in total arhinia the entire nose and olfactory bulbs are lacking whereas in partial arhinia at least one nostril and olfactory nerve is present [4]. In this definition, proboscis lateralis is not included because this entity is considered as a nasal fusion defect, not an embryological defect of the nasal placodes. Arhinia constitutes an extremely rare defect of embryogenesis, with only 36 cases previously reported [1,2,4]. To the best of our knowledge this is one of the three rare cases of its kind to be reported in literature defined as hemiarhinia [7— 9]. It is significant because this malformation is unilateral and is present in an otherwise normal developed child in opposition to the previously reported cases associated with other anomalies in reviewed literature. Aetiology of arhinia is unknown. Pathogenesis of this pathology is not clearly understood. Compre-
164
R. Me ´ndez-Gallart et al.
hension of the mechanism of arhinia should be based on the study of normal embryology. As a general rule it is obvious that the more gross the abnormality the earlier in embryonic life it arose. Embryological development of the nose occurs between the 3rd and 10th weeks of gestation. Nasal placoda appears as local thickening of the ectoderm and develop from the frontal process advancing laterally between the medial and lateral nasal processes. The nasal placoda invaginate at the 5th-week to form the nasal nuclei. Nostrils develop from the nasal nuclei. The nasal nuclei migrate posteriorly to form the nasal cavities. Meanwhile, the oral and nasal cavities are separated by membranes that will rupture at the 7th to 8th weeks to form the posterior nares. The nasal septum develops at the 9th-week when the palate and inferior septum unite and form the secondary palate [5,7]. The most accepted proposed mechanism may be a developmental failure at 4—5th gestation’ weeks of the nasal placoda migration to form the nasal lateral processes or overdevelopment and early fusion in the medial nasal processes Arrest of absorption of the nasal epithelial plates at the 13th through the 15th-week may be another possible explanation [4,7]. Most reported cases are sporadic but two familial cases were published [1]. An autosomal recessive and autosomal dominant with reduced penetrance mode of inheritance was proposed, respectively, in these particular cases. Normal karyotype is the usual finding in most cases but molecular genetic study of some cases of arhinia has demonstrated inversion and trisomy of chromosome 9 and other deletions in chromosome 3 in sporadic cases [1,4]. Surgical repair is staged, but there is controversy about adequate timing and procedure. Respiratory insufficiency is a potentially life-threatening condition in cases of total arhinia and requires a surgical creation of a nasal airway in neonatal period, commonly a tracheostomy [9]. Most authors agree that surgical correction should be delayed until an approximate age of 6 years when facial development is nearly complete [10]. Secondary surgical revisions are common and usually performed near puberty. The surgical approach creates new nasal cavities and an external nose using glabelar flaps and autologous cartilage grafts. According to other
reports, three factors should be considered before perform surgical reconstruction of the nose in childhood. First, the size of the reconstructed nose should be overestimated; second, a later rhinoplasty is always necessary and therefore, potential forehead tissue must be preserved for this secondary approach [7,8,10].
4. Conclusion Congenital absence of the heminose or partial arhinia is an extremely uncommon entity with only three cases previously reported usually associated with other craniofacial and somatic malformations. Heminose reconstruction during childhood is a surgical challenge. Because of infrequent of this pathology, management controversies regarding timing and surgical technique still persist.
References [1] D. Sato, O. Shimokawa, N. Harada, O.E. Olsen, J.W. Hou, W. Muhlbauer, E. Blinkenberg, N. Okamoto, A. Kinoshita, N. Matsumoto, S. Kondo, T. Kishino, N. Miwa, T. Ariga, N. Niikawa, K. Yoshimura, Congenital arhinia: moleculargenetic analysis of five patients, Am. J. Med. Genet. 143A (2007) 546—552. [2] O.E. Olsen, K. Gjelland, H. Reigstad, K. Rosendahl, Congenital absence of the nose: a case report and literature review, Pediatr. Radiol. 31 (2001) 225—232. [3] V.S. Albernaz, M. Castillo, S.K. Mukherji, I.H. Ihmeidan, Congenital arhinia, AJNR 17 (1996) 1312—1314. [4] D. Cohen, K.J. Goitein, Arhinia revisited, Rhinology 25 (1987) 237—244. [5] L. McGlone, Congenital arhinia, J. Paediatr. Child Health 39 (2003) 474—476. [6] W. Cusik, C.A. Sullivan, B. Rojas, A.E. Poole, D.A. Poole, Prenatal diagnosis of total arhinia, Ultrasound. Obstet. Gynecol. 15 (2000) 259—261. [7] G. Akkuzu, B. Akkuzu, E. Aydin, M. Derbent, L. Ozluoglu, Congenital partial arhinia: a case report, J. Med. 1 (2007) 97 (Case reports). [8] P.S. Bhandari, Simultaneous and symmetrical reconstruction of heminose and restoration of nasal airway in congenital absence of heminose, Br. J. Plast. Surg. 57 (2004) 575—578. [9] M.H.A. Beg, Half nose, J. Laryngol. Otol. 98 (1984) 196—915. [10] T. Nagase, S. Kobayashi, K. Omhori, Achieving natural shading of the nostril in the reconstruction of a half nose, Br. J. Plast. Surg. 51 (1998) 131—134.
Available online at www.sciencedirect.com