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Hoarseness is the most common presenting symptom, while pain, stridor or laryngeal obstruction are unusual complaints. They may cause significant respiratory obstruction leading to dyspnoea or respiratory distress and even cyanosis, and jugular and epigastric retractions. Congenital lesions may present with severe airway obstruction at birth calling for emergency intervention and intubation.
Laryngeal cysts are cysts involving the larynx or more frequently supraglottic locations, such as epiglottis and vallecula. Usually they do not extend to the thyroid cartilage. They may be present congenitally or may develop eventually due to degenerative cause. They often interfere with phonation.
Thyroglossal duct cysts most often present with a palpable asymptomatic midline neck mass above the level of the hyoid bone. The mass on the neck moves during swallowing or on protrusion of the tongue because of its attachment to the tongue via the tract of thyroid descent. Some patients will have neck or throat pain, or dysphagia.
The persistent duct or sinus can promote oral secretions, which may cause cysts to become infected. Up to half of thyroglossal cysts are not diagnosed until adult life. The tract can lie dormant for years or even decades, until some kind of stimulus leads to cystic dilation. Infection can sometimes cause the transient appearance of a mass or enlargement of the cyst, at times with periodic recurrences. Spontaneous drainage may also occur. Differential diagnosis are ectopic thyroid, enlarged lymph nodes, dermoid cysts and goiter.
Thyroglossal cyst usually presents as a midline neck lump (in the region of the hyoid bone) that is usually painless, smooth and cystic, though if infected, pain can occur. There may be difficulty breathing, dysphagia (difficulty swallowing), or dyspepsia (discomfort in the upper abdomen), especially if the cyst becomes large.
The most common location for a thyroglossal cyst is midline or slightly off midline, between the isthmus of the thyroid and the hyoid bone or just above the hyoid bone. A thyroglossal cyst can develop anywhere along a thyroglossal duct, though cysts within the tongue or in the floor of the mouth are rare.A thyroglossal cyst will move upwards with protrusion of the tongue.Thyroglossal cysts are associated with an increased incidence of ectopic thyroid tissue. Occasionally, a lingual thyroid can be seen as a flattened strawberry-like lump at the base of the tongue.
An infected thyroglossal duct cyst can occur when it is left untreated for a certain amount of time or simply when a thyroglossal duct cyst hasn't been suspected. The degree of infection can be examined as major rim enhancement has occurred, located inferior to the hyoid bone. Soft tissue swelling occurs, along with airway obstruction and trouble swallowing, due to the rapid enlargement of the cyst.
With infections, there can be rare cases where an expression of fluid is projected into the pharynx causing other problems within the neck.
Preauricular sinuses and cysts result from developmental defects of the first and second pharyngeal arches. This and other congenital ear malformations are sometimes associated with renal anomalies. They may be present in Beckwith–Wiedemann syndrome, and in rare cases, they may be associated with branchio-oto-renal syndrome.
Congenital pulmonary airway malformation (CPAM), formerly known as congenital cystic adenomatoid malformation (CCAM), is a congenital disorder of the lung similar to bronchopulmonary sequestration. In CPAM, usually an entire lobe of lung is replaced by a non-working cystic piece of abnormal lung tissue. This abnormal tissue will never function as normal lung tissue. The underlying cause for CPAM is unknown. It occurs in approximately 1 in every 30,000 pregnancies.
In most cases the outcome of a fetus with CPAM is very good. In rare cases, the cystic mass grows so large as to limit the growth of the surrounding lung and cause pressure against the heart. In these situations, the CPAM can be life-threatening for the fetus. CPAM can be separated into five types, based on clinical and pathologic features. CPAM type 1 is the most common, with large cysts and a good prognosis. CPAM type 2 (with medium-sized cysts) often has a poor prognosis, owing to its frequent association with other significant anomalies. Other types are rare.
Occasionally a preauricular sinus or cyst can become infected.
Most preauricular sinuses are asymptomatic, and remain untreated unless they become infected too often. Preauricular sinuses can be excised with surgery which, because of their close proximity to the facial nerve, is performed by an appropriately trained, experienced surgeon (e.g. a specialist General Surgeon, a Plastic Surgeon, an otolaryngologist (Ear, Nose, Throat surgeon) or an Oral and Maxillofacial Surgeon).
Three quarters of affected patients are asymptomatic. However, 25% develop cyanosis, pneumothorax, and show signs of increased breathing difficulty ( tachypnoea and intercostal retractions).
At examination, they may show hyper-resonance at percussion, diminished vesicular murmur and an asymmetrical thorax.
Salivary gland atresia is congenital blockage or absence of the orifice of a major salivary gland duct or part of the duct itself.
It is a very rare condition. The submandibular salivary gland duct is usually involved, having failed to cannulate during embryological development. The condition first becomes apparent in the first few days after birth where a submandibular swelling caused by a retention cyst is noticed.
Studies done on cadavers claim persistent thyroglossal ducts can be completely asymptomatic and found in 7% of the human adult population. However, the continued presence of the duct can often lead to complications due to infections and fluid buildup. The glands in the mucosa of the duct will continue their secretions until the fluid forms a cyst or exit the duct via the opening in the foramen cecum. Local infections, such as colds, tonsillitis, or inflammation of the lymph nodes in the area can also lead to the accumulation of fluid within the duct. Even if the cyst forms as secondary to another infection and improved after antibiotics, it will often reoccur and require treatment.
Three-fourths of abnormalities within a persistent thyroglossal duct involve the formation of a cyst. If a persistent thyroglossal duct becomes fluid filled it will form a thyroglossal duct cyst, which accounts for 70% of congenital neck masses and is the most likely diagnosis if the mass is along the midline of the neck. These cysts are often diagnosed in children under the age of ten and have no particular gender prevalence. The cysts are normally asymptomatic at this age and are noticed because of the swelling that will move if the patient swallows. Over 80% of these cysts are located at or below the hyoid bone.
Very rarely, the persistent duct can become cancerous, called thyroglossal duct carcinoma. In the case of thyroglossal duct carcinoma, the cancerous cells are ectopic thyroid tissue that has been deposited along the thyroglossal duct and will present as a papillary carcinoma. However, the cells are less likely to metastasize in the cyst, than if they were present in the actual thyroid gland.
The other fourth of abnormalities presents as draining abscess. This is from an infection that will rupture through the skin to allow for adequate drainage of the infected area.
The nasopalatine cyst is the most common non-odontogenic cyst of the oral cavity, at an estimated occurrence rate of 73%.
A persistent thyroglossal duct is a usually benign medical condition in which the thyroglossal duct, a structure usually only found during embryonic development, fails to atrophy. The duct persists as a midline structure forming an open connection between the back of the tongue and the thyroid gland.This opening can lead to fluid accumulation and infection, which necessitate the removal of the duct.
The scalp, ears, back, face, and upper arm, are common sites of sebaceous cysts, though they may occur anywhere on the body except the palms of the hands and soles of the feet. In males a common place for them to develop is the scrotum and chest. They are more common in hairier areas, where in cases of long duration they could result in hair loss on the skin surface immediately above the cyst. They are smooth to the touch, vary in size, and are generally round in shape.
They are generally mobile masses that can consist of:
- Fibrous tissues and fluids,
- A fatty (keratinous) substance that resembles cottage cheese, in which case the cyst may be called "keratin cyst". This material has a characteristic "cheesy" or foot odor smell,
- A somewhat viscous, serosanguineous fluid (containing purulent and bloody material).
The nature of the contents of a sebaceous cyst, and of its surrounding capsule, differs depending on whether the cyst has ever been infected.
With surgery, a cyst can usually be excised in its entirety. Poor surgical technique, or previous infection leading to scarring and tethering of the cyst to the surrounding tissue, may lead to rupture during excision and removal. A completely removed cyst will not recur, though if the patient has a predisposition to cyst formation, further cysts may develop in the same general area.
Symptoms are assessed on a case by case basis. Some cysts in the CNS can be asymptomatic (producing or showing no symptoms), depending on their location in the brain or spinal cord. If the cysts develop in critical areas of the central nervous system, they can present one or more of the following symptoms:
- Pressure in the spinal cord or brain
- Rupture of nerves around the cyst
- Weakness in specific parts of the body controlled by the cyst-infected brain region
- Inflammation
- Hydrocephalus
- Brainstem hemorrhage
- Seizures
- Visual disturbances and hearing Loss
- Headache
- Difficulty with balance or walking
In general, symptoms vary depending on the type of cyst and its location within the CNS.
Due to its classification, a dermoid cyst can occur wherever a teratoma can occur.
Cysts rarely cause any symptoms, unless they become secondarily infected. The signs depend mostly upon the size and location of the cyst. If the cyst has not expanded beyond the normal anatomical boundaries of the bone, then there will be no palpable lump outside or inside the mouth. The vast majority of cysts expand slowly, and the surrounding bone has time to increase its density around the lesion, which is the body's attempt to isolate the lesion. Cysts that have expanded beyond the normal anatomic boundaries of a bone are still often covered with a thin layer of new bone. At this stage, there may be a sign termed "eggshell cracking", where the thinned cortical plate cracks when pressure is applied. A lump may be felt, which may feel hard if there is still bone covering the cyst, or fluctuant if the cyst has eroded through the bone surrounding it. A cyst may become acutely infected, and discharge into the oral cavity via a sinus. Adjacent teeth may be loosened, tilted or even moved bodily. Rarely, roots of teeth are resorbed, depending upon the type of cyst. The inferior alveolar nerve runs through the mandible and supplies sensation to the lower lip and chin. As most cysts expand slowly, there will be no altered sensation (anesthesia or paraesthesia), since the inferior alveolar canal is harmlessly enveloped or displaced over time. More aggressive cysts, or acute infection of any cyst may cause altered sensation.
Surgical repair can sometimes result in complications, including:
- Stricture, due to gastric acid erosion of the shortened esophagus
- Leak of contents at the point of anastomosis
- Recurrence of fistula
- Gastro-esophageal reflux disease
- Dysphagia
- Asthma-like symptoms, such as persistent coughing/wheezing
- Recurrent chest infections
- Tracheomalacia
Nasopalatine duct cysts usually present as asymptomatic palatal swellings, but they may rarely be accompanied by pain and/or purulent discharge. The cysts are generally treated by .
Urethral diverticula are often asymptomatic and symptoms that are present tend to be nonspecific. They can co-occur with cancer, in approximately 6-9% of cases, most commonly adenocarcinoma, but also including squamous cell carcinoma and transitional cell carcinoma. Approximately 10% of cases co-occur with kidney stones.
There are 2 types of urethral diverticulums. Congenital and acquired. In infancy usually the urethral diverticulum is congenital but in rare instances acquired urethral diverticulum can be seen in infancy specially following traumatic catheterization.
Common symptoms of urethral diverticulum include incontinence, urinary frequency and urgency, pain during sex, and pain during urination. Other symptoms include pain localized to the urethra or pelvis and frequent urinary tract infection.
When urethral diverticulum becomes severe, a painful mass can sometimes be felt inside the introitus of the vagina, which can discharge pus. If the mass is hard or bleeds, complications like cancer or kidney stones may be present.
Laryngeal cleft is usually diagnosed in an infant after they develop problems with feeding, such as coughing, cyanosis (blue lips) and failing to gain weight over time. Pulmonary infections are also common. The longer the cleft, the more severe are the symptoms. Laryngeal cleft is suspected after a video swallow study (VSS) shows material flowing into the airway rather than the esophagus, and diagnosis is confirmed through endoscopic examination, specifically microlaryngoscopy and bronchoscopy. If a laryngeal cleft is not seen on flexible nasopharyngoscopy, that does not mean that there is not one there. Laryngeal clefts are classified into four types according to Benjamin and Inglis. Type I clefts extend down to the vocal cords; Type II clefts extend below the vocal cords and into the cricoid cartilage; Type III clefts extend into the cervical trachea and Type IV clefts extend into the thoracic trachea. Subclassification of type IV clefts into Type IVA (extension to 5 mm below the innomate artery) and Type IV B (extension greater than 5 mm below the innominate artery) may help with preoperative selection of those who can be repaired via transtracheal approach (Type IV A) versus a cricotracheal separation approach (type IV B).
Tarlov cysts are likely highly underdiagnosed as it was Isadore Tarlov's later research that led him to the understanding of their symptomology. Symptoms are based on the locations of the cysts along the spine, and follow general pathology of spinal injury:
- Pain
- Paresthesia
- Spasticity, Hypertonia
- Muscular Dysfunction or Weakness
- Radiculopathy
Although they are most frequently reported along sacral regions, they are rarely seen in other locations along the spine. Women are more likely to exhibit symptoms They can also appear in clusters or bilaterally along the spine, thus symptoms can be unilateral, bilateral, or with symptoms more dominant on one side. The cases of reported symptomatic Tarlov cysts ranges from 15% to 30% of the overall reported Tarlov cyst case, depending on the source of literature. Nevertheless, these cysts are important clinical entities because of their tendency to increase in size over time, potentially causing complications and eroding the surrounding bone tissue. Patients with symptomatic Tarlov cysts near the sacrum (and not other locations of the spine) can be divided into 4 categories, according to their experienced symptoms:
- Group 1 - Pain on tailbones that radiates to the legs with potential weakness;
- Group 2 - Pain on bones, legs, groin area, sexual dysfunctions, and dysfunctional bladder;
- Group 3 - Pain that radiate from the cyst site across hips to the lower abdomen;
- Group 4 - No pain, just sexual dysfunction and dysfunctional bladder.
Most cysts in the body are benign (dysfunctional) tumors, the result of plugged ducts or other natural body outlets for secretions. However, sometimes these masses are considered neoplasm:
- Keratocyst
- Calcifying odotogenic cyst
- According to the current (2005) classification of the World Health Organization, both (parakeratizied) odontogenic keratocyst and calcifying odotogenic cyst have neoplastic characteristics, thus renamed as Keratocystic odontogenic tumor and Calcifying odotogenic tumor, respectively.
- Cystic ameloblastoma
- Long standing dentigerous cyst, odontogenic keratocyst, and residual cyst may have neoplastic potential converting into the locally aggressive ameloblastoma, or the malignant squamous cell carcinoma and mucoepidermoid carcinoma.
Odontogenic cyst are a group of jaw cysts that are formed from tissues involved in odontogenesis (tooth development). Odontogenic cysts are closed sacs, and have a distinct membrane derived from rests of odontogenic epithelium. It may contain air, fluids, or semi-solid material. Intra-bony cysts are most common in the jaws, because the mandible and maxilla are the only bones with epithelial components. That odontogenic epithelium is critical in normal tooth development. However, epithelial rests may be the origin for the cyst lining later.
Not all oral cysts are odontogenic cyst. For example, mucous cyst of the oral mucosa and nasolabial duct cyst are not of odontogenic origin.
In addition, there are several conditions with so-called (radiographic) 'pseudocystic appearance' in jaws; ranging from anatomic variants such as Stafne static bone cyst, to the aggressive aneurysmal bone cyst.
Below are a list of commonly reported symptoms associated with sacral Tarlov cysts:
Back pain, perineal pain, secondary Sciatica, secondary piriformis muscle dysfunction with tertiary sciatica, Cauda equina syndrome, neurogenic claudication (pain caused by walking), neurogenic bladder, dysuria, urinary incontinence, coccygodynia, sacral radiculopathy, radicular pain, headaches, retrograde ejaculation, paresthesia, hypesthesia, secondary pelvic floor dysfunction, vaginismus, motor disorders in lower limbs and the genital, perineal, or lumbosacral areas, sacral or buttocks pain, vaginal or penile paraesthesia, Persistent Genital Arousal Disorder (PGAD) characterized by unwanted, unrelenting genital sensory awareness, itch or pain that can persist for days, months, even years), sensory changes over buttocks, perineal area, and lower extremity; difficulty walking; severe lower abdominal pain, bowel dysfunction, intestinal motility disorders like constipation or bowel incontinence.
Odontogenic cysts have histologic origins in the cells of the dental structures. Some are inflammatory while others are developmental.
- Radicular cyst is the most common (up to two thirds of all cysts of the jaws). This inflammatory cyst originated from a reaction to dental pulp necrosis.
- Dentigerous cyst, the second most prevalent cyst, is associated with the crown of non-erupted tooth.
- Odontogenic keratocyst, which now is considered as tumor, and therefore called "Keratocystic odontogenic tumor". This lesion may be associated with the Nevoid basal cell carcinoma syndrome.
- Buccal bifurcation cyst which appears in the buccal bifurcation region of the mandibular first molars in the second half of the first decade of life.
- Eruption cyst; a small cyst in the gingiva as a tooth erupts, forming from the degenerating dental follicle
- Primordial cyst; previous thought to be a unique entity. Most primordial cysts have proven to be Keratocystic odontogenic tumors
- Orthokeratinized odontogenic cyst; a variant of the Keratocystic odontogenic tumor
- Gingival cyst of the newborn; an inclusion cyst from remanents of the dental lamina on a newborn gingiva
- Gingival cyst of the adult; a soft tissue variant of the lateral periodontal cyst
- Lateral periodontal cyst; a non-inflammatory cyst (vs a radicular cyst) on the side of a tooth derived from remanents of the dental lamina
- Calcifying odontogenic cyst; a rare lesion with cystic and neoplastic features and significant diversity in presentation, histology and prognosis
- Glandular odontogenic cyst; cyst with respiratory like epithelial lining and the potential for recurrence with characteristics similar to a central variant of low-grade mucoepidermoid carcinoma