Patient professional reference
There is a range of congenital nose problems - some occurring alone and others as part of a syndrome, most commonly the craniofacial syndromes (eg, Apert, Fraser and Binder syndromes are all associated with a degree of hypoplasia). The underlying causes are varied but, as with any congenital disorder, they can be broadly divided into chromosomal abnormalities (mutations and inherited problems), diseases associated with prenatal infection, maternal drug abuse, environmental factors, iatrogenic causes and abnormalities of unknown aetiology. These are generally uncommon conditions, occurring in <5 in 10,000 births.
The management will be guided by the degree of functional impairment as well as by any associated psychological distress associated with the condition (including parental when a child is very young). This may fall within the remit of ear, nose and throat (ENT) surgeons or plastic surgeons or both, depending on the condition. The neurosurgeons may also be involved. The ENT team is a good first point of assessment of the child.
A useful way to think about congenital nasal abnormalities is to group them according to the type of problem:
- Hypoplasia and atrophy: paucity, atrophy or underdevelopment of skin, subcutaneous tissue, muscle, cartilage and/or bone.
- Hyperplasia and duplications: anomalies of excess tissue, ranging from duplications of parts to complete multiples.
- Clefts: these, in association with other craniofacial clefts, are subject to a more detailed classification system (Tessier's classification).
- Neoplasms and vascular anomalies: benign and malignant neoplasms are found in this category.
Hypoplasia and atrophy
This is the absence of the external nose, nasal cavity and olfactory system. This is extremely rare and evident at birth (both visually and in the fact that newborns are obligate nasal breathers).
Three subtypes of arhinia are recognised:
- Total arhinia.
- Proboscis lateralis (see below).
It is associated with other anomalies (eg, underdeveloped maxilla and a high arched palate) and particularly with trisomy of chromosome 9. There are several steps involved in surgical repair, which can start at approximately 5 years of age and end near puberty.
The presence of a bony septum between the nose and the pharynx is the most common congenital abnormality in the nose but uncommon population-wide (~ 0.82:10,000 live births). It is more common in females. There is a slightly increased risk in twins and it is also associated with a number of chromosomal and other abnormalities (eg, CHARGE syndrome: Coloboma, Heart defects, Atresia of the choanae, Restriction of growth and developmental delay, Genitourinary abnormalities and Ear anomalies).
It can be lethal if bilateral and adequate respiratory support is not available at the time of delivery of the infant. In this case, it will present as severe airway obstruction and cyclical cyanosis. It should also be suspected when crying alleviates respiratory distress. If unilateral (twice as common as bilateral), it tends to occur on the right side. Then, it may not be picked up for many years - eg, until the child has an upper respiratory tract infection and presents with disproportionate nasal obstruction. A simple detection method which may prompt suspicion: look for absence of fogging of a mirror placed underneath the nostrils. A full evaluation of the child for the presence of other congenital abnormalities is required.
These children are best imaged with a CT scan, as this will confirm the diagnosis, the degree of abnormality, the structures involved and other undetected abnormalities. Surgery is the only treatment option (emergency in the newborn affected bilaterally) but patients may require subsequent periodic dilatations. There are a number of techniques that can be used - none has gained universal acceptance, due to competing advantages/disadvantages of each (eg, success rates, number of operative steps, rates of complication, etc). Carbon dioxide and potassium titanyl phosphate (KTP) lasers are being increasingly used, as they are quick and easy to use and cause minimal discomfort.
Two normally formed noses are a possible but very rare occurrence. Surgical correction involves excision of the medial part of each nose and union of the lateral halves.
These arise as a result of the failure of the frontal processes to develop or to merge with other processes, so giving rise to a spectrum of malformations. They can range from slight grooves on the side of the nose to very large defects requiring complex surgery. They are often associated with other problems such as cleft lip and palate and Goldenhar's syndrome.
Lumps and masses
These are the most common congenital nasal abnormality and account for up to 12% of head and neck dermoids and 1.1% of all body dermoids. They are single or multiple epithelial lined cavities/sinus tracts which may contain a variety of tissues (hair, glands and even dural attachments). They most commonly occur in the midline and on the nasal dorsum - manifest as a pit or a mass - typically presenting within the first month of life (73% have been diagnosed by the first year of life). They do not transilluminate or enlarge when the baby cries (unlike encephalocele). Dermoids may extend into the cranial cavity - assessed with CT/MRI scanning. If infection occurs, it is usually limited to the dermoid but may extend to associated structures (risk of orbital cellulitis, osteomyelitis, meningitis or brain abscess). Management is via complete cyst and tract extraction ± neurosurgical input if extensive (recurrence occurs if excision is incomplete).
These are non-encapsulated clusters of glial cells situated outside the central nervous system. They present in childhood with a firm mass (30% intranasal, 60% extranasal, 10% combined). They do not necessarily arise in the midline, they are unaffected by the Valsalva manoeuvre and they do not transilluminate. Intranasal gliomas may mimic nasal polyps (unilateral mass or obstruction). Other presentations include epistaxis and cerebrospinal fluid rhinorrhoea. Investigation is with CT and MRI scanning. Management is surgical and removal has to be complete to prevent recurrence. Intracranial lesions will require a neurosurgical input.
These are rare lesions containing all three layers of embryological germ cells which variably differentiate into recognisable structures. Presentation is at birth.
These arise as a result of herniation of neural tissue through skull defects: 22% of these are cranial and of these, 15% occur in the nose. These lesions transilluminate and enlarge during Valsalva manoeuvre (or when the baby is crying). Adult patients with previously undiagnosed congenital encephaloceles may have experienced problems with rhinorrhoea or recurrent meningitis. Hypertelorism (eyes spaced wide apart) and a broad nose are telltale signs. CT and MRI imaging delineates the amount of defect and herniation respectively and treatment is surgical. A craniotomy is often required. Biopsies are contra-indicated due to the risk of infection ± meningitis.
Proboscis lateralis (congenital tubular nose)
This is a very rare condition in which one side of the nose fails to develop and is replaced by a tubular structure arising from the medial canthus. The nasal cavity, paranasal sinuses and distal end of the nasolacrimal duct are absent. Management is surgical via a multistep procedure carried out in adolescence.
Anosmia refers to the lack of smell. Hyposmia refers to a partial sense of smell and dysosmia a distortion in odour perception (including parosmia a distortion of perception of external stimulus and phantosmia a smell perception with no external stimulus).
Anosmia is rare and congenital anosmia accounts for only 2% of all anosmia cases. Although the survival need for a sense of smell has lessened, lack of this sense can still have profound psychological and somatic consequences - sometimes exacerbated by the public and professional lack of awareness of these (eg, it is involved in relaying emotions, and food poisoning is more prevalent in patients who cannot detect rotten food).
Diagnosis is based on the history but supported with a full head and neck examination to determine whether it is a conductive or sensorineural loss. Chemosensory testing carried out in specialist units can complement the examination, as does neuroradiological imaging to rule out associated problems. There are no real treatment options but an open acknowledgement of the problem is helpful, as is guiding the patient to support groups (eg, the Anosmia Foundation - see 'Further reading & references').
Further reading and references
Valencia MP, Castillo M; Congenital and acquired lesions of the nasal septum: a practical guide for Radiographics. 2008 Jan-Feb28(1):205-24
Losee JE, Kirschner RE, Whitaker LA, et al; Congenital nasal anomalies: a classification scheme. Plast Reconstr Surg. 2004 Feb113(2):676-89.
Tessier P, Ciminello FS, Wolfe SA; The Arrhinias. Scand J Plast Reconstr Surg Hand Surg. 200943(4):177-96.
McGlone L; Congenital arhinia. J Paediatr Child Health. 2003 Aug39(6):474-6.
Burrow TA, Saal HM, de Alarcon A, et al; Characterization of congenital anomalies in individuals with choanal atresia. Arch Otolaryngol Head Neck Surg. 2009 Jun135(6):543-7. doi: 10.1001/archoto.2009.53.
Szeremeta W, Parikh TD, Widelitz JS; Congenital nasal malformations. Otolaryngol Clin North Am. 2007 Feb40(1):97-112, vi-vii.
Gatcum H, Jacob T; Cardiff University School of Biosciences: Anosmia (2001)
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