Congenital Anomalies of The Nose

Christina J. Laane, MD / Anil R. Shah MD

CONGENITAL MIDLINE NASAL MASSES

Congenital midline nasal masses, which include nasal dermoid cysts, nasal encephaloceles, and nasal gliomas (Figures 9–1, 9–2 and 9–5), are rare malformations; one occurs in 20,000–40,000 live births in the United States. Frontoethmoidal encephaloceles are more common in Southeast Asia, with one occurring in every 5000 births. Of the three types of anomalies, nasal dermoid cysts are the most common, accounting for 61% of all midline nasal lesions. In contrast, only approximately 250 nasal gliomas have been reported in the literature.

Dermoid cysts, encephaloceles, and gliomas most often occur in the nose, although these anomalies also can be found in the soft palate, the nasopharynx, and the paranasal sinuses. Dermoid cysts can occur in the tongue or neck as well. Nasal encephaloceles occur more frequently in males and have associated abnormalities in 30–40% of cases. Nasal dermoid cysts occur together with craniofacial malformations in 40% of cases; nasal dermoids are generally sporadic, although familial cases have been reported. Nasal gliomas generally occur as isolated anomalies.

Nasal Dermoid Cysts

Essentials of Diagnosis

• Usually present as a slowly-growing nasal mass or midline pit.
• Do not compress or transilluminate.
• Contain skin and dermal elements, including hair follicles and sebaceous glands.
• Magnetic resonance imaging (MRI) may reveal an intracranial connection.

 General Considerations

Nasal dermoid cysts consist of both ectodermal and mesodermal elements, including hair follicles, sweat glands and sebaceous glands. They are likely embryologically related to nasal gliomas and nasal encephaloceles (Figure 9–2); all three can occur as a result of an anterior skull base defect.

Clinical Findings

A. Symptoms and Signs

Nasal dermoid cysts present in the midline of the nose as masses, sinus tracts, or as a combination of the two. They are usually diagnosed within the first 3 years of life and account for 1–3% of all dermoid cysts; they also account for 4–12% of head and neck dermoid cysts.

Nasal dermoid cysts are firm, slowly growing masses that do not transilluminate or compress. They demonstrate a negative Furstenberg test, meaning there is no expansion of these lesions with crying, Valsalva maneuver, or compression of the ipsilateral jugular veins. These lesions occur anywhere along the nose from the glabella down to the nasal tip or columella, the most common site being the lower third of the nasal bridge. They can cause broadening of the nasal dorsum and deformation of the nasal bones or cartilages. They may present with intermittent discharge of sebaceous material or inflammation; hair protruding from the site is pathognomonic, although this occurs in less than half of patients. Nasal dermoid cysts have an intracranial connection in up to 20–45% of cases (Figure 9–3).

B. Imaging Studies

1. Computed tomography (CT) scans—As with nasal encephaloceles and nasal gliomas, CT imaging is useful for visualizing bony defects of the skull base. A bifid crista galli process and enlargement of the foramen cecum suggest intracranial involvement of the dermoid; however, up to 14% of children under the age of 1 year have incomplete ossification of these areas. With CT imaging, false-positive and false-negative results regarding intracranial involvement are not uncommon.

2. MRI—In general, MRI is more sensitive and specific; it is superior for visualizing soft tissues and diagnosing intracranial extension and is thus the preferred imaging study. Nasal dermoid cysts appear very hyperintense on T1-weighted MRI images (Figure 9–4).

Complications

Untreated nasal dermoid cysts can lead to local inflammation or abscess formation. With the presence of an intracranial connection, they may result in cerebrospinal fluid (CSF) leakage, meningitis, cavernous sinus thrombosis, or periorbital cellulitis. Gradual expansion of nasal dermoid cysts can deform nasal bones or cartilages.

Treatment

Nasal dermoid cysts and sinuses, in general, should be surgically removed as soon as possible to avoid complications. As with nasal gliomas and nasal encephaloceles, any surgical intervention of nasal dermoid cysts should be preceded by full evaluation, including MRI imaging to determine which dermoid cysts have intracranial extension. For those that do, a neurosurgical evaluation is required and craniotomy is generally performed as part of the procedure. The nasal portion of the dermoid can be removed using any one of various incisions, including midline vertical, transverse, lateral rhinotomy, or midbrow. The external rhinoplasty approach allows good surgical exposure in combination with a superior cosmetic result. Cartilaginous grafts are needed at times for dorsal augmentation when normal nasal structures have been altered by the mass. More recently, intranasal endoscopic approaches have been used to resect nasal dermoid cysts, including their removal from the dura.

Prognosis

Recurrence rates for nasal dermoid cysts are as high as 50–100% when dermal elements are incompletely removed; however, when these elements are completely removed, the prognosis is good, although facial scarring, saddle nose deformity, or other nasal structure abnormalities can persist.

Bilkay U, Gundogan H, Ozek C et al. Nasal dermoid sinus cysts and the role of open rhinoplasty. Ann Plast Surg. 2001;47 (1):8. [PMID: 11756796] (The etiology, diagnosis, and surgical management of nasal dermoid cysts are discussed, and advantages of the open rhinoplasty approach are described.)

Bloom D, Carvalho DS, Dory C, Brewster DF, Wickersham JK, Kearns DB. Imaging and surgical approach of nasal dermoids. Int J Pediatr Otorhinolaryngol. 2002;62(2):111. [PMID: 11788143] (MRI was determined to be the most accurate and cost-effective approach for imaging nasal dermoids, while the external rhinoplasty approach is recommended as the preferred surgical technique.)
Bratton C, Suskind DL, Thomas T, Kluka EA. Autosomal dominant familial frontonasal dermoid cysts: a mother and her identical twin daughters. Int J Pediatr Otorhinolaryngol. 2001; 57(3):249. [PMID: 11223458] (This study is the first reported case of a mother and twin daughters who all had frontonasal dermoid cysts, suggesting an autosomal dominant inheritance in certain nasal dermoids.)

Lees MM, Connelly F, Kangesu L, Sommerlad B, Barnicoat A.  Midline cleft lip and nasal dermoids over five generations:  a distinct entity or autosomal dominant Pai syndrome?  Clin Dysmorphol 2006:15(3):155-9. [PMID: 16760735]  (First described syndrome involving nasal dermoids)

Mankarious L, Smith RJ. External rhinoplasty approach for extirpation and immediate reconstruction of congenital midline nasal dermoids. Ann Otol Rhinol Laryngol. 1998;107:786. [PMID: 9749549] (The external rhinoplasty approach for excision of congenital midline nasal dermoid cysts is the preferred method of treatment, although the subsequent impact on nasal growth is unknown.)

Weiss DD, Robson CD, Mulliken JB. Transnasal endoscopic excision of midline nasal dermoid from the anterior cranial base. Plast Reconstr Surg. 1998;102(6):2119. [PMID: 9811012] (The authors describe two patients, each with a nasal dermoid cyst with transcranial extension, whose masses were removed using endoscopic techniques without the need for craniotomy.)

Nasal Encephaloceles & Nasal Gliomas

Essentials of Diagnosis

• Present, usually at birth, with midline nasal mass, nasal obstruction, or CSF leak.
• Nasal encephaloceles are compressible and expand with crying.
• Nasal gliomas are firm and noncompressible.
• MRI imaging may reveal intracranial extension in either anomaly.

Nasal encephaloceles and nasal gliomas are congenital anomalies that are considered to be embryologically related. Nasal encephaloceles occur as a result of herniation of meninges, with or without brain tissue, through a congenital skull base defect (Figure 9–5). They may occur in occipital, basal, or frontoethmoidal regions. All encephaloceles involve a midline skull defect, which corresponds to the site of neural tube closure in the midline. Nasal gliomas likely have a similar origin, though they have lost their intracranial meningeal connection following closure of the anterior fontanelle (see Figure 9–1C).

Clinical Findings

A. Symptoms and Signs

Encephaloceles and gliomas in the nasal region generally present at birth as nasal masses. They may result in nasal obstruction, snoring, or respiratory distress. Patients may have hypertelorism or dislocation of the nasal bones or septum (Figure 9–6). Nasal encephaloceles are generally found at the root of the nose or inferior to the nasal bones. They are soft compressible masses that transilluminate and whose appearance may be confused with nasal polyps. Occasionally these lesions present with CSF rhinorrhea or meningitis.

Nasal gliomas are usually diagnosed at birth or early childhood, although they also have been diagnosed in adulthood. With advances in ultrasound technology, gliomas can be diagnosed in utero.  They most often occur without associated abnormalities. Nasal gliomas are usually firm, noncompressible masses with a negative Furstenberg test. They may be purple or gray and are sometimes covered with telangiectasias; therefore, they can be confused with nasal hemangiomas. Sixty percent of nasal gliomas are extranasal, 30% are intranasal, and 10% are both. Intranasal gliomas may be found high in the nasal vault, along the septum, or along the inferior turbinate. Approximately 15–20% of these lesions have a connection to dura by a pedicle of glial tissue. Histologically, nasal gliomas consist of mature astrocytes surrounded by fibrous connective tissue and normal nasal mucosa.

B. Imaging Studies

Imaging is important for detecting the presence and degree of intracranial involvement as well as for discovering associated abnormalities. Nasal gliomas appear isodense on CT scans and may occasionally contain calcifications or cystic changes. On MRI scans they usually appear hyperintense on T2-weighted images and with variable intensity on T1-weighted images. By revealing a contiguous CSF space, MRI imaging can also clearly differentiate nasal gliomas from nasal encephaloceles. CT imaging is most useful for visualizing bony defects of the skull base. MRI, however, is superior for demonstrating soft tissues and detecting intracranial extension (Figure 9–7).

Differential Diagnosis

Nasal gliomas and nasal encephaloceles may be confused with other masses found in the nasal area, including dermoid cysts, polyps, lacrimal duct cysts, hemangiomas, or malignant neoplasms. Nasal hemangiomas have a tendency for early rapid growth followed by involution, characteristics seen neither in nasal gliomas nor in nasal encephaloceles. Nasal polyps are very rare in infants and are often associated with cystic fibrosis. Polyps generally arise from the lateral nasal wall, as can nasal gliomas; in contrast, nasal encephaloceles are found in the midline.

Complications

Untreated, nasal encephaloceles carry the risk of CSF leak as well as associated infections that include meningitis and intracranial abscesses. These complications may occur in nasal gliomas as well, but with lesser frequency. In addition, nasal encephaloceles may increase in size over time, leading to progressive facial deformity. There are, however, no reports of malignant transformation of either nasal encephaloceles or nasal gliomas.

Treatment

Nasal masses in infants should not be biopsied or excised prior to complete workup, including imaging, to determine whether there is an intracranial connection. If there is no such communication, intranasal masses may be removed endoscopically, which results in minimal trauma and minimal cosmetic deformity. External lesions may be excised using a skin incision over the mass or a coronal flap approach. More extensive lesions involving the cribriform plate may require a lateral rhinotomy.

For nasal encephaloceles and nasal gliomas with intracranial communication, a combined neurosurgical-otolaryngologic approach is most often recommended. A one- or two-stage procedure involving craniotomy in combination with an intranasal approach, lateral rhinotomy, or other external approach may be performed. Some physicians, however, advocate endoscopic techniques for the treatment of nasal gliomas even with the presence of an intracranial connection; both resection of the lesion and repair of the CSF fistula may be achieved with endoscopic procedures.

Prognosis

The prognosis following the surgical resection of nasal encephaloceles and nasal gliomas is generally good. However, a recurrence rate of 4–10% exists as a result of the incomplete resection of nasal gliomas.

Chang KC, Leu YS. Nasal glioma: a case report. Ear Nose Throat J. 2001;80(6):410. [PMID: 11433845] (A case of nasal glioma removed using the lateral rhinotomy approach is described.)

De Biasio P, Scarso E, Prefumo F, Odella C, Venturini PL.  Prenatal diagnosis of a nasal glioma in the mid trimester.  Ultrasound Obstet Gynecol.  2006; 27(5):571-3.[ PMID: 16570265]
(Diagnosis of glioma at 21 weeks with early resection)
Hedlund G. Congenital frontonasal masses: developmental anatomy, malformations, and MR imaging.  Pediatr Radiol 2006;36(7):647-662.  [PMID: 16532348] (MRI superior to determining extension)

Hoeger PH, Schaefer H, Ussmueller J, Helme K. Nasal glioma presenting as a capillary haemangioma. Eur J Pediatr. 2001;160 (2):84. [PMID: 11271395] (A case of a nasal glioma originally misdiagnosed as a capillary hemangioma is described.)

Hoving EW. Nasal encephaloceles. Childs Nerv Syst 2000;16:702. [PMID 11151720] (The pathogenesis, diagnosis, and treatment of nasal encephaloceles are reviewed.)

Rouev P, Dimov P, Shomov G. A case of nasal glioma in a newborn infant. Int J Pediatr Otorhinolaryngol. 2001;58(1):91. [PMID: 11249987] (A case of glioma located along the inferior turbinate in a one-day-old infant is described.)

Sciarretta V, Pasquini E, Frank G, Modugno GC, Cantaroni C, Mazzatenta D, Farenti G.  Endoscopic treatment of benign tumors of the nose and paranasal sinuses:  a report of 33 cases.  Am J Rhinol 2006: 20(1):64-71.   [PMID: 16539297]  (Endonasal gliomas can be resected endoscopically in select patients with reasonable results)

Shah J. Pedunculated nasal glioma: MRI features and review of the literature. J Postgrad Med. 1999;45(1):15. [PMID: 10734326] (A case of nasal glioma is presented and its MRI features described. Diagnosis of nasal gliomas is discussed.)

Van Den Abbeele T, Francois M, Narcy P. Transnasal endoscopic repair of congenital defects of the skull base in children. Arch Otolaryngol Head Neck Surg. 1999;125:580. [PMID: 10326818] (Four cases of transnasal endoscopic resection of nasal gliomas and encephaloceles, including one that involved the repair of CSF leak, are described.)

Mahapatra AK, Agrawal D.  Anterior encephaloceles:  A series of 103 cases over 32 years.  J Clin Neurosci 2006;13(5):536-9.[PMID: 16679016](Nasal Encephalocele of frontoethmoid origin all had swelling of nose, varying degrees of hypertelorism)

NEONATAL BONY NASAL OBSTRUCTIONS

Choanal Atresia

Essentials of Diagnosis

• Bilateral cases present at birth with respiratory distress.
• Unilateral cases may present with unilateral rhinorrhea or nasal obstruction.
• CT scanning confirms the diagnosis.

General Considerations

Choanal atresia occurs in one of every 5000–8000 live births. It affects females twice as often as males and unilateral atresia is twice as common as bilateral atresia. Increased rates of choanal atresia have been suggested in patients with a history of in utero exposure to methimazole; this exposure can also lead to other malformations, including esophageal atresia and developmental delay.

Most cases of choanal atresia are sporadic, although familial cases suggest autosomal dominant or autosomal recessive modes of a single gene defect. Approximately one-half to two-thirds of patients with choanal atresia have associated malformations, which occur more frequently with bilateral atresia. The most common of these is the CHARGE association:

• Coloboma of the eye;
• Heart malformations;
• Choanal Atresia;
• Retarded growth, development, or both;
• Genital hypoplasia; and
• Ear malformations, deafness, or both.

 Choanal atresia is associated with as many as 20 other syndromes; other common coexisting malformations include polydactyly, tracheoesophageal fistula, craniosyntosis, high arched palate, and Treacher Collins syndrome.

Clinical Findings

A. Symptoms and Signs

Neonates are obligate nasal breathers during the first 3–5 months of life; therefore, choanal atresia leading to nasal obstruction may present as respiratory distress and require emergent intervention. This is particularly true of bilateral choanal atresia in which severe nasal obstruction leads to a cyclical cyanosis that improves with crying and worsens with feeding. The nose is often filled with thick mucus and the initial diagnosis is usually made by the inability to pass a small catheter through the choana. Unilateral choanal atresia occurs more frequently in the right choana and may present later in life with unilateral nasal obstruction or rhinorrhea. Frequently, nasal cavity stenosis is found in the patent side as well.

B. Imaging Studies

CT imaging is the study of choice for visualizing choanal atresia (Figure 9–8). Axial images allow examination of the entire nasal cavity and help distinguish between complete and incomplete atresia. On CT imaging, choanal atresia is diagnosed if the posterior choanal orifice measures less than 0.34 cm unilaterally or if the posterior vomer measures greater than 0.55 cm. Traditionally, choanal atresia has been described as 90% bony and 10% membranous. However, more recent studies reveal that in 29% of cases, choanal atresia consists of purely bony elements; in 71% of cases, both bony and membranous materials are present. Often, widening of the vomer is noted as well.

Treatment

A. Nonsurgical Measures
The initial treatment, particularly of bilateral choanal atresia, is to secure a safe airway for the neonate. Often this can be accomplished using an oral airway or a McGovern nipple placed into the patient’s mouth. The McGovern nipple features an enlarged hole through which the infant can breathe as well as feed. When these appliances fail, alternatives include intubation or tracheotomy.

B. Surgical Measures

When the patient is stable for general anesthesia, surgical correction of the atresia can be performed using one of several different techniques. Most commonly, transpalatal and transnasal approaches are used.

1. The transpalatal approach—The transpalatal approach is more often reserved for older patients with unilateral atresia. While there is better visualization and higher success rates, palate growth can be disrupted, which leads to frequent palate and cross-bite deformities.

2. The transnasal approach—The transnasal approach involves less blood loss and is quicker; however, there is an increased risk of CSF leakage and meningitis. A perforating instrument such as a curved trocar can be used to make an opening in the atretic plate.

3. Laser therapy—Various lasers, including carbon dioxide, KTP, and holmium:YAG, can be used to treat choanal atresia. KTP lasers have been used together with endoscopic techniques, with good success, to create an opening. An effective method is using an operating microscope in combination with a carbon dioxide laser to create mucosal flaps on the nasal and nasopharyngeal sides of the atretic plate. These are laid into the new choanal opening to help prevent scar contracture, which could lead to closure of the circumferential epithelial defect.

C. Additional Measures

Regardless of the type of choanal atresia repair utilized, most physicians place either round or keel-type stents into the nasal cavity for 2–6 weeks to prevent restenosis. In addition, mitomycin applied to the posterior choanae at the completion of surgical repair, done in combination with stenting, often decreases recurrence rates as compared to stenting alone.

Prognosis

Success rates are in the range of 55–85% for surgical correction of choanal atresia. Failure results when the choanae become obliterated by granulation or scar tissue. Recurrences can occur between 2 months and 6 years and often require further surgical correction or dilations. Recently, repeated balloon dilation has been used successfully to treat recurrent choanal atresia.

Chia S, Carvalho DS, Jaffe DM, Pransky SM. Unilateral choanal atresia in identical twins: a case report and literature review. Int J Pediatr Otorhinolaryngol. 2002;62(3):249. [PMID: 11852129] (A case of monozygotic twins with choanal atresia is presented.)

Dedo HH. Transnasal mucosal flap rotation technique for repair of posterior choanal atresia. Otolaryngol Head Neck Surg. 2001; 124(6):674. [PMID: 11391260] (Thirty-two cases of choanal atresia were treated using a combination of carbon dioxide laser, anterior mucosal flaps, and Teflon keels, with all patients having resultant adequate to good bilateral nasal orifice sizes.)

Goettmann D, Strohm M, Strecker EP. Treatment of a recurrent choanal atresia by balloon dilation. Cardiovasc Intervent Radiol 2000; 23(6):480. [PMID: 11232900] (A case report that demonstrates that recurrent choanal atresia can be treated successfully using balloon dilation.)

Holland BW, McGuirt WF Jr. Surgical management of choanal atresia: improved outcome using mitomycin. Arch Otolaryngol Head Neck Surg. 2001;127(11):1375. [PMID: 11701078] (Eight children with choanal atresia treated with mitomycin intraoperatively required significantly fewer postoperative dilations as compared to patients not treated with mitomycin.)

Tzifa KT, Skinner DW. Endoscopic repair of unilateral choanal atresia with the KTP laser: a one-stage procedure. J Laryngol Otol. 2001;115(4):286. [PMID: 11276330] (Three patients with choanal atresia treated with endoscopic KTP required no dilations or further surgical repair of the atresia.)

Vanzieleghem B, Lemmerling MM, Vermeersch HR et al. Imaging studies in the diagnostic workup of neonatal nasal obstruction. J Comput Assist Tomogr. 2001;25(4):540. [PMID: 11473183] (The imaging studies utilized in the diagnostic workup of twelve neonates with choanal atresia, nasal pyriform aperture stenosis, a nasolacrimal duct mucocele, or nasal hypoplasia are reviewed.)

Nasal Pyriform Aperture Stenosis

Essentials of Diagnosis

• Presents with nasal obstruction within the first few months of life.
• Examination reveals bony obstruction at the nasal vestibule.
• CT imaging confirms the diagnosis.

General Considerations

Congenital nasal pyriform aperture stenosis was first described in 1989 as a bony overgrowth of the medial maxilla that leads to narrowing of the nasal inlet. This disorder is often considered a form of holoprosencephaly. As many as 50 cases have been described in the last decade. Pyriform aperture stenosis can be found either in isolation or together with other malformations, including submucous cleft palate, absence of the anterior pituitary gland, hypoplastic maxillary sinuses, or a central maxillary incisor.

Clinical Findings

A. Symptoms and Signs

Half of patients with nasal pyriform aperture stenosis present at birth with the same symptoms found in patients with bilateral choanal atresia. With severe stenosis, neonates have respiratory distress, feeding difficulties, or a cyclical cyanosis that is relieved by crying. Examination of the nose reveals a bony obstruction in the vestibule and an inability to pass a catheter into the nose. In 60% of cases, a central maxillary incisor is present, lending support for pyriform aperture stenosis being a form of holoprosencephaly. Other features of holoprosencephaly seen in these patients include hypotelorism and a flat nasal bridge.

B. Imaging Studies

On CT imaging, nasal pyriform aperture stenosis is diagnosed when the transverse diameter of each aperture is less than 3 mm or when the width is less than 8 mm. In addition, brain MRI or CT imaging should be performed to rule out pituitary or midbrain abnormalities.

Treatment

The initial treatment of mild forms of nasal pyriform aperture stenosis is conservative. Attempts are made to alleviate nasal obstruction using topical nasal decongestants, corticosteroids, suctioning, or humidification. In more severe cases, stents or a McGovern nipple may be required to maintain a patent nasal airway. If the infant fails to respond to medical treatment within 10–15 days, loses weight, has cyclical cyanosis, or develops pulmonary hypertension from obstruction, surgical repair is recommended. This is generally accomplished by a superior gingivolabial incision and premaxillary degloving approach. Taking care to preserve mucosa, the aperture is widened using drills and stents are usually placed for 1–4 weeks.

Prognosis

The symptoms related to mild cases of nasal pyriform aperture stenosis may resolve as the child grows. Patients who require surgery most often achieve relief of nasal obstruction and follow-up to at least 1 year post-operatively reveals favorable outcomes.

Brown OE, Myer CM III, Manning SC. Congenital nasal pyriform aperture stenosis. Laryngoscope. 1989;99(1):86. [PMID: 2909825] (Congenital nasal pyriform aperture stenosis is described for the first time.)

Fornelli RA, Ramadan HH. Congenital nasal pyriform aperture stenosis: clinical review. Otolaryngol Head Neck Surg. 2000; 122(1):113. [PMID: 10629496] (A case of nasal pyriform aperture stenosis and a review of the literature are presented.)

Lee JJ. Congenital nasal pyriform aperture stenosis: nonsurgical management and long-term analysis. Int J Otorhinolaryngol. 2001;60(2):167. [PMID: 11518596] (Two cases of congenital nasal pyriform aperture stenosis are reviewed, and the embryology, presentation, and treatment of this disorder are discussed.)

Van Den Abbeele T, Triglia JM, Francois M, Narcy P. Congenital nasal pyriform aperture stenosis: diagnosis and management of 20 cases. Ann Otol Rhinol Laryngol. 2001;110(1):70. [PMID: 11201813] (The diagnosis, treatment, outcome, and abnormalities associate with pyriform aperture stenosis are reviewed.)

Vanzieleghem B, Lemmerling MM, Vermeersch HF et al. Imaging studies in the diagnostic workup of neonatal nasal obstruction. J Comput Assist Tomogr. 2001;25(4):540. [PMID: 11473183] (The imaging studies utilized in the diagnostic workup of twelve neonates with choanal atresia, nasal pyriform aperture stenosis, a nasolacrimal duct mucocele, or nasal hypoplasia are reviewed.)

SELECTED ANOMALIES OF THE NOSE

Hemangiomas

Hemangiomas are common tumors that occur in up to 10–12% of Caucasian children and up to 22% of premature infants. They affect females three times as frequently as males. These lesions are not present at birth but appear within the first few months of life. MRI is the most appropriate imaging modality. In general, hemangiomas demonstrate an early 3–9 month proliferative phase followed by quiescence and then involution, generally by 5–7 years of age. As many as 50–98% of hemangiomas regress spontaneously, often making close observation the most appropriate treatment.

Hemangiomas may be present in any portion of the head or neck, including the nose (Figure 9–9). Here they may be found intra- or extranasally and can lead to nasal obstruction. Nasal hemangiomas, in comparison to hemangiomas found in other sites, may have lower rates of involution. Lesions that do not regress and those that lead to airway obstruction, bleeding, or thrombocytopenia require more aggressive intervention. Severe cases may be treated with systemic or intralesional corticosteroids, surgery, or with carbon dioxide or Nd:YAG lasers. Good response rates also have been reported with interferon alpha, although neurological complications may occur. Nasal reconstruction may be necessary when nasal cartilages or bones have been destroyed or distorted. A full discussion of hemangiomas is found in Chapter 5, Hemangiomas and Vascular Malformations.

Arrhinia

Arrhinia is defined as a congenital absence of the nose; approximately 25 cases have been reported in the literature. In this situation, the nasal bones, cribriform plate, and nasal septum are absent. The paranasal sinuses and olfactory bulbs are often absent as well, and high arched palate and hypertelorism are common findings. The embryologic abnormality is likely to be failure of the nasal placode to invaginate during the fifth week of fetal development. Most cases reported are sporadic, although familial cases with a dominant inheritance have been described. Surgical correction is often delayed until pre-school age, unless problems with feeding are severe. Surgery involves both correction of the high arched palate and reconstructing an external nose. Surgery is often performed in multiple stages, utilizing techniques such as forehead flaps, rib grafts, and tissue expansion.

Duplication Anomalies

Fewer than 10 cases of duplication anomalies of the nose have been reported in the literature. These include polyrhinia and supernumerary nostrils.

1. Polyrhinia

Polyrhinia describes the existence of two external noses. One embryologic theory to describe this malformation involves the development of two pairs of nasal placodes, which then undergo the normal development. Frequently, bilateral choanal atresia is also present. The atresia is corrected first, followed by excision of the medial portions of each external nose for cosmetic improvement.

2. Supernumerary Nostrils

A supernumerary nostril is an extra opening lateral, medial, or superior to the normal nostril; at presentation, it may be filled with fluid. This additional orifice may be unilateral or bilateral and may or may not communicate with the nasal cavity. Embryologically, this structure may result from a localized abnormality of the lateral nasal process in which a fissure appears accidentally during mesenchymal proliferation. A supernumerary nostril may be excised as a wedge, closing the normal nasal tissue primarily.

Clymer M, Fortune DS, Reinisch L, Toriumi DM, Werkhaven JA, Ries WR. Interstitial Nd:YAG photocoagulation for vascular malformations and hemangiomas in childhood. Arch Otolaryn Head Neck Surg. 1998;124:431. [PMID: 9559692] (Interstitial photocoagulation of hemangiomas and vascular malformations can achieve reduction in the size of these lesions.)

Greinwald JH Jr, Burke DK, Bonthius DJ, Bauman NM, Smith RJ. An update on the treatment of hemangiomas in children with interferon alfa-2a. Arch Otolaryn Head Neck Surg. 1999;125:21. [PMID: 9932582] (While interferon alfa-2a is an effective treatment in pediatric patients with massive or life-threatening hemangiomas, neurologic evaluation must be performed as this therapy leads to a high incidence of associated neurologic abnormalities.)

Hallak A, Jamjoon H, Hosseinzadeh T. Supernumerary nostrils: a case report and review. Aesthetic Plast Surg. 2001;25(3):241. [PMID: 11426317] (A case of supernumerary nostril, its treatment, and the theories of the embryogenesis of this finding are discussed.)
McCarthy JG, Borud LJ, Schreiber JS. Hemangiomas of the nasal tip. Plast Reconstr Surg. 2002;109(1):31. [PMID: 11786788] (Early open rhinoplasty for resection of nasal tip hemangiomas can be performed safely and with minimal scarring.)

Meyer R. Total external and internal construction in arrhinia. Plast Reconstr Surg. 1997;99(2):534. [PMID: 9030164] (A multiple-stage surgical correction of arrhinia is described.)

Olsen OE, Gjelland K, Reigstad H, Rosendahl K. Congenital absence of the nose: a case report and literature review. Pediatr Radiol. 2001;31(4):225. [PMID: 11321738] (Twenty-two previously reported cases and one new case of congenital absence of the nose are reviewed.)

Williams A. Supernumerary nostril: a rare congenital deformity. Int J Pediatr Otorhinolaryngol. 1998;44(2):161. [PMID: 9725533] (A case of supernumerary nostril and a review of eight cases of duplication anomalies of the nose are presented.)

Figure 1. Nasal anatomy: (A) Early nasal anatomy, (B) normal late nasal anatomy, and (C) intranasal glioma.

Figure 2. Nasal dermoid cyst and dermoid sinus.

Figure 3. Dermoid cyst of nasal glabella, with tuft of hair visible (see arrow). (Photo courtesy of Dr. Kristina W. Rosbe, MD, University of California, San Francisco, CA.)

Figure 4. MRI of nasal dermoid cyst with intracranial involvement. (Imaging courtesy of Dr. Kristina W. Rosbe, MD, University of California, San Francisco, CA.)

Figure 5. Extranasal encephalocele.

Figure 6. Nasal encephalocele: (A and B): Preoperative photos;  (Photos courtesy of Dr. William Y. Hoffman, MD, University of California, San Francisco, CA.)

Figure  (C and D): Postoperative photos.

Figure 7. Nasal encephalocele. (A) MRI depicting intracranial involvement, and (B) CT scan depicting extranasal involvement and hypertelorism. (Imaging courtesy of Dr. William Y. Hoffman, MD, University of California, San Francisco, CA.)

Figure 8. CT scan depicting left choanal atresia. (Imaging courtesy of Dr. Kristina W. Rosbe, MD, University of California, San Francisco, CA.)

Figure 9. Hemangioma of the nasal tip. (Photo courtesy of Dr. Kristina W. Rosbe, MD, University of California, San Francisco, CA.)