Non-Neoplastic Lesions of the Sinonasal Tract

Clinical

• Causes of rhinosinusitis are numerous ( Box 2-2 ) and include:

  • Allergic (most common)

  • Infectious

  • Aspirin intolerance

  • Nonallergic rhinosinusitis with eosinophilia (NARES)

  • Idiopathic

  • Occupational or environmental exposure

  • Systemic diseases

  • Structural or mechanical causes:

    • –

      Deviated nasal septum

    • –

      Neoplasms

    • –

      Immotile cilia syndrome

  • Medication-induced:

    • –

      Referred to as rhinosinusitis medicamentosa

    • –

      May be caused by topical or systemic medications, such as:

      • ▪

        Propranolol, oral contraceptives, reserpine, others

      • ▪

        Nasal sprays

  • Pregnancy:

    • –

      Thought to result from the combined effects on the nasal mucosa by pregnancy-related hormones, increased blood volume, and airway resistance

  Box 2-2

  Causes of Rhinosinusitis

  • Allergic (most common)

  • Infectious

  • Aspirin intolerance

  • Nonallergic rhinosinusitis with eosinophilia (NARES)

  • Idiopathic

  • Occupational or environmental exposure

  • Systemic diseases

  • Structural or mechanical causes

  • Medication-induced

  • Pregnancy

• Often the diagnosis of rhinosinusitis is straightforward by clinical evaluation and does not require radiographic imaging or tissue sampling; however, there are exceptions in which radiographic imaging and biopsies are required to establish a diagnosis of rhinosinusitis and to exclude other possible diseases that cause and/or are associated with rhinosinusitis.

Radiology of Rhinosinusitis

Pathology of Nonspecific Chronic Rhinosinusitis

Differential Diagnosis

• A more specific cause of sinusitis (see previous and subsequent sections)

• Sinonasal inflammatory polyp

• Neoplastic proliferation especially in the setting of inflammatory epithelial hyperplasia

Treatment and Prognosis

• Rhinosinusitis is a spectrum of diseases, and defining its various subtypes will alter management to include medical treatment (e.g., steroids, antibiotics) and surgery (e.g., functional endoscopic sinus surgery [FESS]).

• Management often involves combination of systemic and topical therapies, with surgery reserved for patients who fail medical therapy.

• FESS is among the most common surgeries performed for sinonasal disease refractory to maximal medical therapy.

• Optimal timing of FESS in treatment remains to be defined.

• Over the past decades, the average life expectancy for patients with cystic fibrosis has increased; with increasing survival and improved pulmonary management, otolaryngologists are now seeing increasing numbers of cystic fibrosis patients with chronic rhinosinusitis:

  • For adult and pediatric cystic fibrosis patients with sinusitis, endoscopic sinus surgery yields clinical improvement measured primarily by sinonasal symptoms and endoscopic findings.

  • In general, sinusitis is not life threatening but depending on cause may result in ongoing and persistent morbidity.

Clinical

• No gender predilection; occur in all ages but are commonly seen in adults over 20 years of age and rarely seen in children less than 5 years of age:

  • The exception to this age restriction occurs in patients with cystic fibrosis, who develop nasal polyps in the first and second decades of life.

• Most polyps arise from the lateral nasal wall or from the ethmoid recess; not infrequently, involvement of the nasal cavity and paranasal sinuses occurs:

  • Common occurrence along the lateral nasal wall probably relates to the fact that the normal physiologic parameters of lateral nasal cavity mucosa are such that prominent edema readily forms in the mucosal lamina propria.

• Polyps may be unilateral or bilateral, single or multiple.

• Symptoms include nasal obstruction, rhinorrhea, and headaches:

  • The triad of nasal polyps, asthma, and aspirin intolerance is well recognized and is referred to as Samter's triad.

• Radiology:

  • Soft tissue densities, air-fluid levels, mucosal thickening, and opacification of the paranasal sinuses; when extensive, inflammatory polyps may expand and even destroy bone.

• Cause is linked to multiple factors, including allergy (atopy), infections, cystic fibrosis, diabetes mellitus, and aspirin intolerance.

• Mulberry turbinate is a clinical term that refers to swollen nasal turbinate tissue formed as a result of edema interspersed among the thick vessel walls of the prominent (essentially normal) turbinate vascularity; this appearance may clinically suggest a pathologic process such as a vascular malformation.

Pathology

Differential Diagnosis

• Infectious diseases (tuberculosis, sarcoid, others)

• Schneiderian papilloma:

  • May occur in the background of histologic changes of a sinonasal inflammatory polyp or, similar to sinonasal inflammatory polyps, may have marked stromal edema

  • Surface epithelial proliferation seen in association with Schneiderian papillomas is absent in inflammatory polyps.

• Nasopharyngeal angiofibroma (NPAF):

  • Histologic features including slit-like vessels lacking significant smooth muscle component and variably cellular fibrous stroma absent in sinonasal inflammatory polyps

• Sinonasal hamartomas (e.g., respiratory epithelial adenomatoid hamartoma, seromucinous hamartoma, others): see later in this section

• Heterotopic central nervous system tissue (HCNST) and acquired encephalocele:

  • Brain tissue in the setting of HCNST and acquired encephalocele may be histologically altered and/or associated with fibrotic tissue and may not readily recognized as CNS tissue.

  • HCNST and acquired encephaloceles can be mistaken for inflammatory polyps.

  • Immunostains including GFAP may be required to assist in identifying CNS type tissue.

• Granulomatosis with polyangiitis (formerly known as Wegener granulomatosis)

• Squamous intraepithelial lesions (i.e., dysplasia, carcinoma in situ):

  • Rarely occurs as an isolated finding in the sinonasal tract in the absence of a coexisting invasive carcinoma

• Rhabdomyosarcoma (due to the presence of atypical stromal cells, which may be confused with rhabdomyoblasts; see Antrochoanal Polyp)

• Amyloidosis

Treatment and Prognosis

• Identification and treatment of possible etiologic factor(s) is the initial approach in the treatment of sinonasal polyps.

• Surgical excision includes polypectomy for nasal polyps and medial maxillectomy (Caldwell–Luc procedure) to include removal of the stalk for antrochoanal polyps.

• Approximately 50% of patients will have recurrence of their nasal polyps following surgery, recurrence rates being highest in patients with aspirin intolerance and asthma.

• Development of functional endoscopic sinus surgery (FESS) has contributed to decreasing the morbidity of sinonasal surgery and the recurrence of nasal polyposis in patients with cystic fibrosis and in improving sinonasal-related symptomatology for patients with asthma.

• Sinonasal inflammatory polyps occurring in patients with cystic fibrosis may respond to medical therapy, but surgical resection may be required.

• Systemic steroid treatment effective in decreasing polyp size and in controlling mucosal inflammation:

  • Steroid treatment results in decrease in nasal symptoms and polyp size.

  • Systemic steroid treatment may also contribute to prevention of recurrence.

Clinical

• Represents approximately 3% to 6% of all sinonasal polyps

• More common in men than in women; tend to occur in patient populations that are younger (i.e., teenagers and young adults) as compared to patient population affected by nasal polyps

• Generally present as a single, unilateral polyp with nasal obstruction; however:

  • Posterior extension from the maxillary sinus toward the nasopharynx may result in obstruction of the nasopharynx and clinical suspicion of a primary nasopharyngeal tumor.

  • May extend (“hang”) into the oropharynx and be identifiable through the open mouth

• Often associated with bilateral maxillary sinusitis, and despite correlation in up to 40% of cases of associated allergies, the antrochoanal polyp is felt to be of an inflammatory cause.

• Antrochoanal polyps are often associated with bilateral maxillary sinusitis and may also be associated with more typical sinonasal polyps:

  • Sphenochoanal polyps originate from the sphenoid sinus and extend through the sphenoid ostium, across the sphenoethmoid recess, and into the choana (the boundary between the nasal cavity and nasopharynx):

    • –

      Rarely, antrochoanal polyp may coexist with sphenochoanal polyp.

• In up to 40% of cases of antrochoanal polyps, there may be a documented history of allergies.

• Radiology:

  • Soft tissue density in the posterior choanal region or in the nasopharynx with clouding or opacification of the maxillary sinus

Pathology

Differential Diagnosis

• Nasopharyngeal angiofibroma

• Vascular proliferation/neoplasm:

  • Hemangioma

  • Angiosarcoma

Treatment and Prognosis

• Cured following complete surgical excision

  • Endoscopic approach for complete removal considered safe and effective procedure

  • A focus on the detection of the exact origin and the extent of the polyp considered key to prevent recurrence

• May recur if the polyp including the stalk is incompletely excised:

  • High recurrence rate also occurs in antrochoanal polyps, especially in patients with a history of allergies.

  • Endoscopic removal may result in a higher recurrence rate.

  • Surgical removal of the polyp with its stalk markedly decreases the likelihood of recurrence.

  • To prevent incomplete excision and recurrences, combined approaches (functional endoscopic sinus surgery and mini-Caldwell) have been advocated.

Clinical

• No gender predilection; may occur in all age groups

• Occur most commonly in the frontal and ethmoid sinuses (>90%):

  • The fronto-nasal duct is relatively long and narrow and thus can relatively easily be obstructed, especially following surgery to this region.

  • The maxillary sinus may be involved but is uncommon (5% to 10%).

  • Sphenoid sinus involvement occurs but is considered rare.

• Symptoms depend on the site of involvement as well as the direction and extent of expansion, and include pain, facial swelling or deformity, proptosis, enophthalmos, visual disturbances (e.g., diplopia, loss of vision, sudden blindness), optic neuropathy, rhinorrhea, nasal obstruction:

  • Overall this is a chronic process with signs and symptoms occurring over time rather than an acute process.

• Two types of mucoceles are identified:

  • Internal: herniation of the cyst into submucosal tissue adjacent to the bony wall of the sinus

  • External: herniation of the cyst through the bony wall of the sinus with extension into subcutaneous tissue or into the cranial cavity

• Expansion of a mucocele is in the direction of least resistance.

• Clinical picture may be mistaken for a neoplasm.

• Radiology:

  • Opacification of the involved sinus; with time there is increase in pressure resulting in:

    • –

      Erosion and/or destruction of the sinus walls with loss of the typical scalloped outline along the mucoperiosteum

    • –

      Abnormal radiolucency due to loss of bone

    • –

      Sclerosis of adjacent bone

    • –

      The cavity manifests a smoothly contoured expanded wall with reactive bony thickening.

    • –

      Based on the strikingly rounded appearance and presence of homogeneous mucoid contents, the radiographic picture can be highly characteristic.

• Irrespective of the sinus involved, the pathogenesis of mucoceles are thought to occur as a result of an increase in pressure within a given sinus secondary to blockage of the sinus outlet (ostium), most often the result of an inflammatory or allergic process:

  • Additional factors implicated in the development of a mucocele include trauma, postsurgical or a neoplasm.

Pathology

Differential Diagnosis

• Mucous retention cyst

Treatment and Prognosis

• Prognosis is excellent after complete surgical excision:

  • With the introduction of endoscopic sinus surgical instruments and techniques, there has been a trend toward transnasal endoscopic management of sinus mucoceles.

  • Increasing evidence shows that endoscopic management of sinus mucoceles results in long-term control with near zero recurrence rates.

• Complications include:

  • Superimposed infection (pyocele)

  • Meningitis

  • Brain abscess

Clinical

• Occurs in approximately one of 4000 births

• No gender predilection; generally presents at birth or within the first few years of life; however, may affect any age group

• Most commonly occurs in and around the nasal cavity, usually associated with the septum:

  • A midline location with swelling in the nasal bridge area is common.

  • Lesion is usually not strictly midline but may occur more laterally (paramidline), toward or near the inner canthus of the eye.

  • Other sites of involvement include the ethmoid sinus, palate, middle ear, tonsil, and pharyngeal area.

• No evidence of familial predisposition

• Extranasal lesions:

  • Most common, making up approximately 60% of cases

  • Present as a subcutaneous blue or red mass along the bridge of the nose; the skin overlying the swelling or mass may be slightly erythematous.

• Intranasal lesions:

  • Represent approximately 30% of cases

  • Present with obstruction and/or septal deviation

  • Clinically confused with nasal polyps

  • Nasal attachment occurs high within the nasal vault along the lateral wall of the nasal fossa or middle turbinate.

• Mixed extra- and intranasal:

  • Represents approximately 10% of cases

  • Communication occurs through a defect in the nasal bone.

• Negative Furstenberg test (swelling or pulsating lesion following pressure on the ipsilateral jugular vein; typically positive in an encephalocele)

• HCNST most often occurs sporadically but rarely may occur with other congenital abnormalities, including dermal sinus or overlying tuft of hair.

• Radiology:

  • Radiographic studies are indicated to rule out a bony defect that may identify communication to the cranial cavity (encephalocele).

• Prior to biopsy of a lesion in the superior portion of the nasal cavity or base of the nose, detailed clinical and radiographic evaluation of possible continuity with the central nervous system (CNS) is indicated; CNS involvement may be clinically apparent by evidence of meningitis, cerebrospinal fluid rhinorrhea, and anosmia.

Pathology

Differential Diagnosis

• Encephalocele (congenital or acquired):

  • Some consider HCNST to represent a variant of encephalocele in which the communication to the central nervous system has closed, remains undetected, or has become fibrotic.

  • Distinction from an encephalocele is important but may be difficult (see below):

    • –

      The lobular architecture formed by circumscribing fibrous septa is more characteristic of the HCNST.

    • –

      The presence of neurons would be more in favor of an encephalocele, but the absence of neurons does not exclude an encephalocele.

    • –

      In general, encephaloceles are composed of tissue that is more like brain.

• Sinonasal inflammatory polyps

• Teratoma

• Benign peripheral nerve sheath tumor (e.g., neurofibroma)

• Olfactory neuroblastoma

• Presence of gemistocytic astrocytes in the lesion may cause consideration for a malignant lesion.

Treatment and Prognosis

• Surgery is the preferred treatment and results in the cure of the patient:

  • HCNST does not regress and therefore requires management (i.e., surgery).

• 10% recurrence or persistence rate following incomplete excision

• Preoperative assessment for CSF communication is indicated and, if present (i.e., an encephalocele), communication with the CNS necessitates surgical repair.

• Prognosis is excellent.

Clinical

• May be classified as congenital (developmental skull defect) or an acquired lesion:

  • Almost all encephaloceles appear to occur sporadically and are not associated with any genetic syndrome(s).

• Prevalence of congenital encephaloceles varies in different parts of the world from about 0.8 to 4 per 10,000 live births.

• More common in Asia than in the western hemisphere

• Ratio of sincipital to occipital lesions varies geographically:

  • Sincipital encephaloceles are about nine times more frequent than occipital ones in Southeast Asia.

  • In Europe and North America the occipital lesions are more common than sincipital ones.

  • Basal encephaloceles are rare (2% to 10% of cases) in all geographic regions.

• Sincipital congenital encephaloceles:

  • Usually form a visible midline or paramidline mass in the region of the bridge (root) of the nose and glabella and are almost always evident at birth

  • Tend to be larger than HCNST

  • Tend to be more compressible than HCNST

  • May be associated with hypertelorism

• Basal encephaloceles:

  • Do not produce a visible facial mass

  • Most involve the midface and may appear as a mass lesion in nasal cavity, nasopharynx, the posterior orbital region, or the sphenomaxillary fossa.

  • May not be evident during infancy and may not present until the patient is significantly older, accounting for a “second peak” of encephalocele incidence around the age of 5 to 10 years

  • Likely the lesions slowly enlarge and thus tend to eventually become more symptomatic.

  • May be clinically mistaken for an inflammatory nasal polyp

• Incidence of acquired sinonasal encephaloceles is unknown:

  • Tend to occur in adults

  • Generally occur as a postsurgical complication

  • May be misdiagnosed as “heterotopias,” and their true nature and genesis goes unrecognized.

  • Some probably related to head trauma other than surgery

  • The cause of some acquired encephaloceles is unclear.

• Radiographic assessment is an important component in the evaluation of these lesions and for detecting evidence of the connection to the central nervous system.

• Embryogenesis:

  • Occipital encephaloceles may be associated with other neural tube closure defects, such as myelomeningocele; associated anomalies may include cleft lip, cleft palate, nasal tip malformation, ocular abnormalities, craniosynostosis.

  • Sincipital encephaloceles are not linked with neural tube defects.

  • Basal encephaloceles may be associated with other anomalies, mostly of the midface, including cleft lip and cleft palate.

Pathology

Differential Diagnosis

• Heterotopic central nervous system tissue

• CNS neoplasm:

  • Possibility of a neoplasm such as a low-grade astrocytoma may arise.

  • Primary intracranial neoplasm presenting in the sinonasal tract without obvious intracranial origin and extension into the sinonasal tract is highly unlikely.

Treatment and Prognosis

• Treatment for congenital sincipital-basal encephaloceles is surgical (transcranial) resection:

  • In the presence of gross hypertelorism, orbital translocation may be required.

  • Normal development in approximately 60% of cases

• Treatment for acquired encephaloceles is surgery:

  • Repair of a CNS leak may be required.

  • Prevention of meningitis is paramount.

  • Prognosis is very good.

Clinical

• Nasal dermoid cysts represent approximately 10% of all dermoids in the cervicofacial region.

• No gender predilection; usually present in infants or young children, but may occur in adults

• Majority are midline swellings at the root of the nose (nasal bridge), although a few may be found in the lower and lateral regions of the nose near the ala:

  • Small lesions or deeply seated cysts may not be apparent until after they become infected and inflamed.

  • Sinus tract with an epidermal opening may be present.

  • Intracranial extension may occur.

  • Rarely, may present with median upper lip fistula

• Radiology:

  • Preoperative evaluation is essential to rule out intracranial extension.

  • Computed tomography (CT) and/or magnetic resonance (MRI) is indicated to delineate deep tissue involvement and to exclude a possible associated intracranial extension.

• Predominance as a midline lesion in the nasal bridge, a similar location as the glial heterotopias, suggests that the development of these two lesions is related.

• May be associated with or coexist with other congenital developmental malformations and may be familial

Pathology

• Cyst with cutaneous appendages (e.g., hair follicles, sebaceous glands, sweat glands) identified in the connective tissue wall

• Lumen is filled with keratin or sebaceous material.

• Respiratory epithelium may be identified.

Differential Diagnosis

• Normal skin surface

• Due to marked alterations secondary to infection, the lesion may be obscured and overlooked.

• Distinction should be made between nasal dermoids and so-called nasopharyngeal dermoids; the latter are not cysts and are actually ectopic accessory auricles.

Treatment and Prognosis

• Curative treatment is surgical:

  • The most important treatment concern is the possibility of the associated existence of a deeply seated cyst or its related sinus tract involving the anterior midline skull base.

  • Radiographic examination to judge the deep extent of the lesion is obviously important in planning operative removal.

• Lesions with intracranial extension have traditionally been managed with lateral rhinotomy, midface degloving, or external rhinoplasty approaches combined with a frontal craniotomy; alternatively, a subcranial approach has been proposed that:

  • Offers excellent exposure

  • Minimizes frontal lobe retraction

  • Reduces the likelihood of cerebrospinal fluid leak

  • Provides for excellent cosmetic result

  • Shows long-term follow-up with no recurrence or negative effect on craniofacial growth

• Low recurrence rates

Clinical

• PCD is a heterogenetic disorder, usually inherited as an autosomal recessive trait, but pedigrees showing autosomal dominant or X-linked recessive modes of inheritance have been reported.

• Majority of cases are congenital due to an inborn genetic error, but some are acquired, usually the result of epithelial alterations subsequent to inflammatory disease:

  • Acquired forms of the disorder are referred to as secondary ciliary dyskinesia.

• Ciliopathies are a category of diseases caused by disruption of the physiologic functions of cilia:

  • Ciliary dysfunction results in a broad range of phenotypes, including renal, hepatic, and pancreatic cyst formation; situs abnormalities, retinal degeneration, anosmia, cerebellar or other brain anomalies, postaxial polydactyly, bronchiectasis, and infertility.

  • Specific clinical features are dictated by the subtype, structure, distribution, and function of affected cilia.

• Presentation for PCD is typically in the early neonatal period:

  • If the diagnosis is considered in older children or in adults and a reasonably reliable clinical history is devoid of evidence of prominent and persistent respiratory tract problems dating from early infancy, the diagnosis is probably not feasible.

• Virtually all patients manifest sinusitis and otitis media, and an associated persistent mucopurulent rhinorrhea is often striking:

  • Chronic bronchitis, recurrent pneumonia, and atelectasis are common.

  • Presence of situs inversus in association with chronic bronchitis, recurrent pneumonia, and atelectasis is virtually pathognomonic for Kartagener's syndrome, and this clinical scenario generally does not require cilia evaluation for the diagnosis.

  • Approximately 50% of patients lack situs inversus, and in this setting ultrastructural examination of cilia is required for diagnostic purposes.

• Exhaled and nasal nitric oxide (NO) measurements have been used to detect PCD in children:

  • Nasal NO is significantly lower in children with proven PCD compared with those with negative biopsy results and healthy control subjects.

  • Nasal NO below a cut-off level of 105 ppb has a reported specificity of 88% for PCD and positive predictive value of 89%.

  • Nasal NO above a cut-off level of 105 ppb excluded PCD with a 100% certainty.

  • Measurement of nasal NO appears to be a useful tool to screen children for PCD and to exclude this disease in those with high nasal NO levels.

• Most patients are currently diagnosed with PCD based on the presence of defective ciliary ultrastructure; however:

  • Diagnosis often remains challenging due to variability in the clinical phenotype and ciliary ultrastructural changes.

  • Some patients with PCD have normal ciliary ultrastructure, further confounding the diagnosis.

  • A genetic test for PCD exists but is of limited value because it investigates only a limited number of mutations in only two genes.

  • Genetics of PCD is complicated owing to the complexity of axonemal structure that is highly conserved through evolution, which is composed of multiple proteins.

  • Identifying a PCD-causing gene is challenging due to locus and allelic heterogeneity.

  • There are a limited number of known PCD-causing genes that combined explain approximately 50% of PCD cases; therefore more genes must be identified.

• For ultrastructural analysis:

  • A nasal cavity biopsy is usually the most easily obtained specimen.

  • Anterior ends of the nasal turbinates are a readily accessible biopsy location, but these areas are where epithelial metaplastic changes are common. In patients with the chronic rhinitis as occurs in PCD, the presence of squamous metaplasia of the anterior turbinate regions is likely and a biopsy from these areas will in all probability contain no cilia. In such a situation, a specimen is best obtained more toward the posterior part of the nasal cavity.

  • If lower respiratory tract endoscopy is done as a part of the patient's evaluation, obtaining a tracheal mucosal brushing or biopsy has a much higher chance of producing a specimen with abundant cilia.

• Gene mutations in PCD:

  • PCD is genetically heterogeneous.

  • PCD-causing mutations have been identified in 20 genes, but collectively they account for only approximately 65% of all PCDs.

  • Ciliary gene mutations are now known to cause single organ disease as well as complex syndromes.

  • Different genes are involved in different patients.

  • Loss-of-function mutations in ARMC4 cause PCD with situs inversus and cilia immotility, associated with a loss of the distal outer (but not inner) dynein arms.

  • Biochemical analysis in Chlamydomonas spp. revealed that the C21orf59 ortholog FBB18 is a flagellar matrix protein that accumulates specifically when cilia motility is impaired:

    • –

      Chlamydomonas ida6 mutant identifies CCDC65/FAP250 as an essential component of the nexin-dynein regulatory complex.

    • –

      Two genes associated with PCD-causing mutations elucidated two distinct mechanisms critical for motile cilia function:

      • ▪

        Dynein arm assembly for C21orf59

      • ▪

        Assembly of the nexin-dynein regulatory complex for CCDC65

  • Mutations in SPAG1 cause PCD with ciliary outer dynein arm and inner dynein arm defects.

  • Exome sequencing has identified loss of function mutations in CCDC114 as a cause of PCD.

  • ZMYND10 is a cytoplasmic protein required for inner dynein arm and outer dynein arm assembly, and its variants cause ciliary dysmotility and PCD.

  • Loss-of-function DYX1C1 mutations, a newly identified dynein axonemal assembly factor (DNAAF4) found in patients with PCD

  • RSPH1 mutations appear as a major cause for this PCD phenotype, including central complex and radial spoke defects.

  • Founder mutation in RSPH4A identified as a common cause of PCD without situs abnormalities in patients of Hispanic (Puerto Rican) descent

  • Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

• Combining ultrastructural analysis and molecular genetics, the diagnostic yield can be increased:

  • Ciliary biopsy is unreliable as the sole criteria for a definitive diagnosis.

  • Molecular genetic analysis can be used as a complementary test to increase the diagnostic yield.

Pathology

Differential Diagnosis

• Diagnosis and differential diagnosis is essentially normal cilia versus abnormal cilia:

  • Avoidance in diagnosing a ciliary abnormality with its implication of an incurable genetic defect should be avoided as an error; such a diagnosis sentences a patient to an unwarranted pessimistic prognosis that could be of major negative emotional impact.

  • If the results strongly suggest a structural defect, it is probably best to obtain another sample from a different anatomic location to see if the same results are obtained.

Treatment and Prognosis

• Presence of ciliary abnormality represents a universal and permanent genetic defect in all of the patient's cilia and is permanent.

• Early recognition and initiation of otolaryngologic and pulmonary management may reduce potential long-term morbidities.

Clinical

• Predominantly occur in adult patients with a decided male predominance; patients range in age from the third to ninth decades of life with a reported median age in the sixth decade of life.

• Majority occur in the nasal cavity, in particular the posterior nasal septum:

  • Involvement of other intranasal sites occurs less often and may be identified along the lateral nasal wall, middle meatus, and inferior turbinate.

  • Other sites of involvement include the nasopharynx, ethmoid sinus, and frontal sinus.

• Majority of lesions are unilateral but occasionally bilateral lesions may occur.

• Clinical presentation may include one or more of the following symptoms:

  • Nasal obstruction, nasal stuffiness, epistaxis, and chronic (recurrent) rhinosinusitis

  • Symptoms may occur over months to years.

  • Associated complaints include allergies.

  • Nondestructive

• No association with any specific etiologic agent such as environmental or occupational exposure, tobacco use, or alcohol abuse

• Arise in the setting of inflammatory polyps, raising a possible developmental induction secondary to the inflammatory process