Most patients present clinically with progressive, one sided hearing loss, much more often of the sensorineural rather than conductive type. Patients may also experience tinnitus, vertigo, and loss of vestibular function (ataxia). Symptoms are usually present for a long time, which supports the slow growth of these tumors. Patients may also present with other symptoms related to von Hippel-Lindau syndrome in other anatomic sites, which will result in imaging evaluation of the head.

Imaging studies help to identify the tumor and the specific anatomic site of involvement. Magnetic resonance images show a hyperintensity (hypervascularity) of a heterogeneous mass by T1 weighted images. Computed tomography shows a multilocular, lytic destructive temporal bone mass, centered within the endolymphatic sac (between internal auditory canal and sigmoid sinus).

The histology of EST is variable, but usually includes malignant endodermal cells. These cells secrete alpha-fetoprotein (AFP), which can be detected in tumor tissue, serum, cerebrospinal fluid, urine and, in the rare case of fetal EST, in amniotic fluid. When there is incongruence between biopsy and AFP test results for EST, the result indicating presence of EST dictates treatment. This is because EST often occurs as small "malignant foci" within a larger tumor, usually teratoma, and biopsy is a sampling method; biopsy of the tumor may reveal only teratoma, whereas elevated AFP reveals that EST is also present. GATA-4, a transcription factor, also may be useful in the diagnosis of EST.

Diagnosis of EST in pregnant women and in infants is complicated by the extremely high levels of AFP in those two groups. Tumor surveillance by monitoring AFP requires accurate correction for gestational age in pregnant women, and age in infants. In pregnant women, this can be achieved simply by testing maternal serum AFP rather than tumor marker AFP. In infants, the tumor marker test is used, but must be interpreted using a reference table or graph of normal AFP in infants.

Review of past cases, patients often do not exhibit many symptoms or obtain a diagnosis until they are around 20 to 40 years old. If the patient does show symptoms, it is most likely due to pressure from growth of the tumor. Depending on which part the epidermoid is pressing against can result in varying symptoms.

- Headaches – often worse in the morning or by changing positions; can be constant and become more severe or more frequent; not your typical headache

- Vision problems like blurred vision, double vision, or loss of peripheral vision

- Loss of sensation or movement in the arms, legs, or face

- Dizziness or difficulty with balance and walking, unsteadiness, vertigo

- Speech difficulties

- Confusion in everyday matters or disorientation

- Seizures, especially in someone who hasn’t had seizures before

- Hearing loss or buzzing or ringing in the ear

- Swallowing or speech difficulty

- Fatigue or sleepiness especially in children

Endodermal sinus tumor (EST), also known as yolk sac tumor (YST), is a member of the germ cell tumor group of cancers. It is the most common testicular tumor in children under 3, and is also known as infantile embryonal carcinoma. This age group has a very good prognosis. In contrast to the pure form typical of infants, adult endodermal sinus tumors are often found in combination with other kinds of germ cell tumor, particularly teratoma and embryonal carcinoma. While pure teratoma is usually benign, endodermal sinus tumor is malignant.

GCNIS is seen in the following settings:

- Almost all invasive germ cell tumours of the testis in adults

- Fifty percent of patients with GCNIS developed invasive germ cell tumours within five years of initial diagnosis.

- Five percent of contralateral testes in men with a history of prior testicular germ cell tumour.

- Less than five percent of cryptorchid testes.

- Less than one percent of patients with infertility.

An epidermoid cyst is a benign cyst usually found on the skin. The cyst develops out of ectodermal tissue. Histologically, it is made of a thin layer of squamous epithelium.

Not all germ cell tumors (GCTs) arise from "intratubular germ cell neoplasia". The following testicular GCTs do not arise from ITGCN:

- Spermatocytic seminoma

- Pediatric Yolk sac tumors (endodermal sinus tumour). This is currently an area of controversy as some authors dispute the absence of ITGCN in these cases.

- Teratoma (rare exceptions)

The epidermoid cyst may have no symptoms, or it may hurt when touched. It can release pus. It is very common for women on the major or minor labia. In contrast to pilar cysts, epidermoid cysts are usually present on parts of the body with relatively little hair.

Occasionally, an epidermoid cyst will present with Trigeminal neuralgia.

Although they are not malignant, there are rare cases of malignant tumors arising from an epidermoid cyst.

Birt–Hogg–Dubé syndrome affects the skin and increases the risk of tumors in the kidneys and lungs. The condition is characterized by multiple noncancerous dome-shaped tumors of the hair follicles (fibrofolliculomas), particularly on the face, neck, and—more rarely—the upper chest. The fibrofolliculomas are generally described as having an opaque white color or a yellowish tone and have a waxy, smooth texture. The tumors are always found on and around the nose and on and behind the outer ear. Typically, they first appear in a person's 20s or 30s, and are found in more than 80% of people with the syndrome above the age of 40. The tumors become larger and more numerous over time. Tumors differ between individuals: they may appear merged in plaques, look similar to a comedo with a plug of keratin, or include epidermoid cysts. A large number of tumors on the face can be associated with hyperseborrhea (abnormally elevated sebum production). The presence of fibrofolliculomas on a person's face can cause significant psychological distress.

Other tumors can include trichodiscomas (tumors of the hair disc, which may be identical to fibrofolliculomas), angiofibromas, and perifollicular fibromas. However, angiofibromas are more common in tuberous sclerosis. Along with the tumors, other skin conditions are seen in people with Birt–Hogg–Dubé syndrome. Approximately 40% of people or families with the disease have papules in their mouth, which can be located on the cheeks (buccal mucosa), tongue, gums, or lips. Either white or mucosa-colored, they are discrete, small, and soft and consist of fibrous tissue covered in thickened epithelium. Collagenomas of the skin are also found in some families. Many people with BHD have skin lesions that appear to be acrochordons (skin tags), but may instead be fibrofolliculomas. These lesions are usually found in the armpit, on the eyelids, and in folds of skin. Not all individuals develop the facial tumors; some families with the mutation that causes BHD develop only kidney tumors or spontaneous pneumothorax.

People over 20 years of age with Birt–Hogg–Dubé syndrome have an increased risk of developing slow-growing kidney tumors (chromophobe renal carcinoma and renal oncocytoma, respectively), kidney cysts, and possibly tumors in other organs and tissues. These tumors often occur in both kidneys and in multiple locations in each kidney. The average number of kidney tumors found in a person with BHD is 5.3, though up to 28 tumors have been found. Hybrid oncocytoma/chromophobe carcinoma, found in 50% of cases, is the most commonly found cancer, followed by chromophobe renal carcinoma, clear cell renal carcinoma, renal oncocytoma, and papillary renal cell carcinoma. People over 40 years old and men are more likely to develop kidney tumors, which are diagnosed at a median age of 48. Kidney cancer associated with BHD have been diagnosed in people at ages as young as 20.

In general, people with Birt–Hogg–Dubé syndrome are at roughly seven times the risk of kidney cancer compared to the unaffected population. Estimates of the incidence among people with the disease range from 14%–34%. Rarely, it is associated with clear cell renal cell carcinoma and papillary renal cell carcinoma. If it develops in someone with BHD, renal cell carcinoma occurs later in life and has a poor prognosis. Though the types of tumor typically associated with BHD are considered less aggressive, cases of advanced or metastatic kidney cancer have been observed in people with the syndrome. Both benign and cancerous tumors can reduce kidney function over time as they grow larger.

Ninety percent of cases of head and neck cancer (cancer of the mouth, nasal cavity, nasopharynx, throat and associated structures) are due to squamous cell carcinoma.

Magnetic resonance imaging (MRI) and computed tomography (CT) brain scans can be used to identify these tumors.

Esophageal cancer may be due to either squamous cell carcinoma (ESCC) or adenocarcinoma (EAC). SCCs tend to occur closer to the mouth, while adenocarcinomas occur closer to the stomach. Dysphagia (difficulty swallowing, solids worse than liquids) and painful swallowing are common initial symptoms. If the disease is localized, surgical removal of the affected esophagus may offer the possibility of a cure. If the disease has spread, chemotherapy and radiotherapy are commonly used.

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.

Benign tumors of the ovary include ovarian cysts, such as borderline tumor cysts.

Neoplasms of the nailbed may often present with paronychia, ingrown nail, onycholysis, pyogenic granuloma, nail-plate dystrophy, longitudinal erythronychia, bleeding, and discolorations. There are various benign and malignant neoplasms that may occur in or overlying the nail matrix and in the nailbed, and symptoms may include pain, itching, and throbbing.

Benign tumors of the nails include verruca, pyogenic granuloma, fibromas, nevus cell nevi, myxoid cysts, angiofibromas (Koenen tumors), and epidermoid cysts.

Squamous cell carcinoma of the nailbed is uncommon, and often mistaken for a pyogenic granuloma initially. Subungual melanoma is frequently diagnosed late in the course of growth.

Most vaginal cancers do not cause signs or symptoms early on. When vaginal cancer does cause symptoms, they may include:

- Vaginal discharge or abnormal bleeding.

- Unusally heavy flow of blood

- Bleeding after menopause

- Bleeding between periods; or any other

- Bleeding that is longer than normal for you

- Blood in the stool or urine

- Frequent or urgent need to urinate

- Feeling constipated

- pain during sexual intercourse

- a lump or growth in the vagina that can be felt

Enlarged pelvic lymph nodes can sometimes be palpated.

Ovarian tumors, or ovarian neoplasms, are tumors arising from the ovary. They can be benign or malignant (ovarian cancer).

Carcinoma is a type of cancer that develops from epithelial cells. Specifically, a carcinoma is a cancer that begins in a tissue that lines the inner or outer surfaces of the body, and that arises from cells originating in the endodermal, mesodermal and ectodermal germ layer during embryogenesis.

Carcinomas occur when the DNA of a cell is damaged or altered and the cell begins to grow uncontrollably and become malignant. It is from the Greek καρκίνωμα 'karkinoma' meaning sore, ulcer, or cancer, itself derived from "karkinos" 'crab'.

A teratoma is a tumor made up of several different types of tissue, such as hair, muscle, or bone. They typically form in the ovaries, testicles, or tailbone and less commonly in other areas. Symptoms may be minimal if the tumor is small. A testicular teratoma may present as a painless lump. Complications may include ovarian torsion, testicular torsion, or hydrops fetalis.

They are a type of germ cell tumor (a tumor that begins in the cells that give rise to sperm or eggs). They are divided into two types mature and immature. Mature teratomas include dermoid cysts and are generally benign. Immature teratomas may be cancerous. Most ovarian teratomas are mature. In adults, testicular teratomas are generally cancerous. Definitive diagnosis is based on a tissue biopsy.

Treatment of tailbone, testicular, and ovarian teratomas is generally by surgery. Testicular and immature ovarian teratomas are also frequently treated with chemotherapy.

Teratomas occur in the tailbone in about 1 in 30,000 newborns making them the most common tumor in this age group. Females are affected more often than males. Ovarian teratomas represent about a quarter of ovarian tumors and are typically noticed during middle age. Testicular teratomas represent almost half of testicular cancers. They can occur in both children and adults. The term comes from the Greek words for "monster" and "tumor".

Teratomas maybe found in babies, children, and adults. Teratomas of embryonal origin are most often found in babies at birth, in young children, and, since the advent of ultrasound imaging, in fetuses.

The most commonly diagnosed fetal teratomas are sacrococcygeal teratoma (Altman types I, II, and III) and cervical (neck) teratoma. Because these teratomas project from the fetal body into the surrounding amniotic fluid, they can be seen during routine prenatal ultrasound exams. Teratomas within the fetal body are less easily seen with ultrasound; for these, MRI of the pregnant uterus is more informative.

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.

Due to its classification, a dermoid cyst can occur wherever a teratoma can occur.

Symptoms of polyps include nasal congestion, sinusitis, loss of smell, thick nasal discharge, facial pressure, nasal speech, and mouth breathing. Recurrent sinusitis can result from polyps. Long-term, nasal polyps can cause destruction of the nasal bones and widening of the nose.

As polyps grow larger, they eventually prolapse into the nasal cavity resulting in symptoms. The most prominent symptoms of nasal polyps result blockage of the nasal passage.

People with nasal polyps due to aspirin intolerance often have symptoms known as Samter's triad, which consists of asthma worse with aspirin, a skin rash caused by aspirin, and chronic nasal polyps.