Symptoms are not specific; most patients report itching, burning, and soreness. A small subset of patients may be asymptomatic. Presence of vulvar pain, bleeding, and tumor formation are reported to be more common in patients affected by invasive disease.Signs and symptoms are skin lesions, often mistaken as eczema, that may be itchy or painful.

Vulvar Paget disease presents as a variety of clinical lesions that may occur over a protracted course. Initially it is velvety, soft, and red or bright pink with scattered white islands of hyperkeratosis. (a strawberry and cream appearance) The lesions become erythematous, plaque like, and desquamating especially when located in dry areas. Rarely the appearance is ulcerated. The borders appear irregular, slightly elevated, and sharply demarcated. The visible borders of vulvar Paget disease are often misleading as Paget cells may spread along the basal layers of normal appearing skin with multicentric foci. Involvement may be extensive including the perianal region, genitocrural, and inguinal folds. Clinical examination should determine the presence of periurethral and perianal lesions. In these cases an involvement of the skin by a noncutaneous internal neoplasm may occur.

It presents itself in the mouth, most frequently as a thick, bilateral, symmetrical white plaques with a spongy, corrugated or velvety texture. Most usually, the lesions are on the buccal mucosa, but sometimes on the labial mucosa, alveolar ridge, floor of the mouth, ventral surface of the tongue or soft palate. The gingival margin and dorsum of the tongue are almost never affected. Less commonly, sites outside the mouth are affected, including the nasal, esophageal, laryngeal, anal and genital mucosae. It usually is present from birth, or develops during childhood. Rarely, the lesions may develop during adolescence. Apart from the appearance of the affected areas, there are usually no other signs or symptoms.

Paget's disease of the breast can affect the nipple and areola. Symptoms typically only affect one breast. Symptoms may include:

- "Skin." The first symptom is usually an eczema-like rash. The skin of the nipple and areola may be red, itchy and inflamed. After a period of time, the skin may become flaky or scaly.

- "Discharge." A discharge, which may be straw-colored or bloody, may ooze from the area.

- "Sensation." Some women have a burning sensation. These symptoms usually occur in more advanced stages, when serious destruction of the skin often prompts the patient to consult. Lumps or masses in the breast occur in 50% of the patients. In more advanced stages, the disease may cause tingling, increased sensitivity and pain.

- Nipple changes. The nipple may turn inwards be inverted.

- Breast changes. There may or may not be a lump in the breast, and there may be redness, oozing and crusting, and a sore that does not heal.

The symptoms usually affect the nipple and then spread to the areola and then the breast. It is common for the symptoms to wax and wane.

Most women do not visit the doctor because they assume Paget's disease to be minor contact dermatitis or eczema. A lump or skin irritation that does not seem to heal for over a month indicates that attention by a specialist is needed.

Anal dysplasia is a pre-cancerous condition which occurs when the lining of the anal canal undergoes abnormal changes. It can be classified as low-grade squamous intraepithelial lesions (LSIL) and high-grade squamous intraepithelial lesions (HSIL).

Most cases are not associated with symptoms, but people may notice lumps in and around the anus.

White sponge nevus (WSN, or white sponge naevus, Cannon's disease, hereditary leukokeratosis of mucosa, white sponge nevus of Cannon, familial white folded dysplasia, or oral epithelial nevus), is an autosomal dominant condition of the oral mucosa (the mucous membrane lining of the mouth). It is caused by a mutations in certain genes coding for keratin, which causes a defect in the normal process of keratinization of the mucosa. This results in lesions which are thick, white and velvety on the inside of the cheeks within the mouth. Usually, these lesions are present from birth or develop during childhood. The condition is entirely harmless, and no treatment is required.

Anorectal anomalies are medical problems affecting the structure of the anus and rectum. A person with an anorectal problem would have some sort of deformative feature of the anus or rectum, collectively known as an anorectal malformation.

Examples of anorectal anomalies include:

- Anal stenosis

- Imperforate anus

- Proctitis

- Anal bleeding

- Anal fistula

- Anal cancer

- Anal itching

- Hemorrhoid (piles)

Abnormal descent of the perineum may be asymptomatic, but otherwise the following may feature:

- perineodynia (perineal pain)

- Colo-proctological symptoms, e.g. obstructed defecation, dyschesia (constipation), or degrees of fecal incontinence

- gynaecological symptoms, e.g. cystocele (prolapse of the bladder into the vagina) and rectocele (prolapse of the rectum into the vagina)

- lower urinary tract symptoms, e.g. dysuria (painful urination), dyspareunia (pain during sexual intercourse), urinary incontinence & urgency

Other researchers concluded that abnormal perineal descent did not correlate with constipation or perineal pain, and there are also conflicting reports of the correlation of fecal incontinence with this condition.

Erythroplasia of Queyrat is a squamous-cell carcinoma of the glans penis (head of the penis) or inner prepuce (foreskin) in males, and the vulvae in females. It mainly occurs in uncircumcised males, over the age of 40. Erythroplasia of Queyrat may also occur on the anal mucosa or the oral mucosa.

Some sources state that this condition is synonymous with Bowen's disease, however generally speaking Bowen's disease refers to carcinoma in situ of any location on the skin such as the lower leg. Like Bowen's disease, erythroplasia of Queyrat is associated with human papillomavirus 16 and is a precursor for invasive squamous-cell carcinoma.

It is named for French dermatologist Louis Queyrat (1856-1933), who was head of the dermatology service of l'Hôpital Ricord, a venereal hospital in Paris, now Hôpital Cochin.

TBS patients may have the following symptoms:

- Abnormalities of the external ears (unusually large or small, unusually shaped, sometimes with sensorineural hearing loss or deafness due to lesions or dysfunctions of part of the internal ear or its nerve tracts and centers or conductive hearing loss from the external or middle ear), dysplastic ears, lop ear (over-folded ear helix), preauricular tags or pits (a rudimentary tag of ear tissue typically located just in front of the ear).

- Anorectal malformations, including imperforate anus/absence of an anal opening, rectovaginal fistula, anal stenosis, unusually placed anus.

- Renal abnormalities, sometimes leading to impaired renal function or renal failure, including hypoplastic kidneys (underdeveloped), multicystic kidneys, dyspastic kidneys.

- Heart abnormalities, including tetralogy of fallot and defects of the ventricular septum.

- Hand and foot abnormalities, such as hypoplastic thumbs, fingerlike thumbs, syndactyly (webbed fingers/toes), fusion of the wrist bones, overlapping foot and/or toe bones.

Learning difficulties have been reported in some children with TBS. For others, intelligence is within the normal range.

These abnormalities, which are present prenatally, can range from minor to severe, and as with similar disorders, most individuals with this condition have some, but not all, of these traits.

If a colostomy is not performed immediately after birth, patients with rectovestibular fistulae may present later in life with complications including severe constipation and megacolon (abnormal dilation of the colon), requiring colostomy or further surgery.

The condition mainly occurs in women, and it is thought by some to be one of the main defects encountered problem in perineology.

Paget's disease of the breast is a type of cancer that outwardly may have the appearance of eczema, with skin changes involving the nipple of the breast. The condition is an uncommon disease accounting for 1 to 4.3% of all breast cancers and was first described by Sir James Paget in 1874. The condition in itself often appears innocuous, limited to a surface appearance and it is sometimes dismissed, although actually indicative of underlying breast cancer.

A Paget's abscess, named by eminent British surgeon and pathologist Sir James Paget, is an abscess that recurs at the site of a former abscess which had resolved.

Anal fistulae can present with the following symptoms:

- skin maceration

- pus, serous fluid and/or (rarely) feces discharge — can be bloody or purulent

- pruritus ani — itching

- depending on presence and severity of infection:

Townes–Brocks syndrome (TBS) is a rare genetic disease that has been described in approximately 200 cases in the published literature. It affects both males and females equally. The condition was first identified in 1972. by Philip L. Townes, MD, PhD, who was at the time a human geneticists and Professor of Pediatrics, and Eric Brocks, MD, who was at the time a medical student, both at the University of Rochester.

Symptoms of cuffitis mimic those of pouchitis. In addition, patients with cuffitis often present with small volume bloody bowel movements. Often, cuffitis can produce the appearance of bright red blood on tissue.

People who have been treated with radiotherapy for pelvic and other abdominal cancers frequently develop gastrointestinal symptoms. These include:

- rectal bleeding

- diarrhea and steatorrhea

- other defecation disorders including fecal urgency and incontinence.

- nutritional deficiencies and weight loss

- abdominal pain and bloating

- nausea, vomiting and fatigue

Gastrointestinal symptoms are often found together with those in other systems including genitourinary disorders and sexual dysfunction. The burden of symptoms substantially impairs the patients' quality of life.

Nausea, vomiting, fatigue and diarrhea may happen early during the course of radiotherapy. Radiation enteropathy represents the longer-term, chronic effects which may be found after a latent period most commonly of 6 months to 3 years after the end of treatment. In some cases, it does not become a problem for 20-30 years after successful curative therapy.

Craniosynostosis–anal anomalies–porokeratosis syndrome (also known as "CAP syndrome") is a cutaneous condition inherited in an autosomal recessive fashion.

The diagnosis of a rectovestibular fistula can be made in female newborns if the vulva is stained with meconium (the earliest form of stool in an infant). The opening of the anus may be difficult to see due to its small size and position, but it may be visible as a thickening of the median perineal raphe with an obvious anal dimple. Patients with rectovestibular fistulae are commonly misdiagnosed with rectovaginal fistulae.

Anal dysplasia is most commonly linked to human papillomavirus (HPV), a usually sexually-transmitted infection. HPV is the most common sexually transmitted infection in the United States while genital herpes (HSV) was the most common sexually transmitted infection globally.

Anal fistula (plural fistulae), or fistula-in-ano, is a chronic abnormal communication between the epithelialised surface of the anal canal and (usually) the perianal skin. An anal fistula can be described as a narrow tunnel with its internal opening in the anal canal and its external opening in the skin near the anus. Anal fistulae commonly occur in people with a history of anal abscesses. They can form when anal abscesses do not heal properly.

Anal fistulae originate from the anal glands, which are located between the internal and external anal sphincter and drain into the anal canal. If the outlet of these glands becomes blocked, an abscess can form which can eventually extend to the skin surface. The tract formed by this process is a fistula.

Abscesses can recur if the fistula seals over, allowing the accumulation of pus. It can then extend to the surface again - repeating the process.

Anal fistulae "per se" do not generally harm, but can be very painful, and can be irritating because of the drainage of pus (it is also possible for formed stools to be passed through the fistula). Additionally, recurrent abscesses may lead to significant short term morbidity from pain and, importantly, create a starting point for systemic infection.

Treatment, in the form of surgery, is considered essential to allow drainage and prevent infection. Repair of the fistula itself is considered an elective procedure which many patients opt for due to the discomfort and inconvenience associated with an actively draining fistula.

Mild or early cases of Pagets are asymptomatic, and so most people are diagnosed with Paget's disease incidentally during medical evaluation for another problem. Approximately 35% of patients with Paget's have symptoms related to the disease when they are first diagnosed. Overall, the most common symptom is bone pain. When symptoms do occur, they may be confused with those of arthritis or other disorders, and so diagnosis may be delayed.

Paget's may first be noticed as an increasing deformity of a person's bones.

Paget's disease affecting the skull may lead to loss of hearing in one or both ears due to compression of the nerves in the inner ear. Rarely, skull involvement may lead to compression of the nerves that supply the eye, leading to vision loss.

Surgery-associated ischemia may contribute inflammation at the anal transitional zone.

Patients whose cuffitis is refractory to mesalamine and/or corticosteroids should be evaluated for other disease in the cuff area, such as fistula or anastomotic leaks. Cuffitis that is refractory to medication can also be a sign of Crohn's disease of the pouch.

Chronic cuffitis can also contribute to the development of anastomotic stricture.

Cuffitis that is refractory, Crohn's-related, or is associated with surgical complications can contribute to pouch failure.

Symptoms of anal cancer can include pain or pressure in the anus or rectum, a change in bowel habits, a lump near the anus, rectal bleeding, itching or discharge. Bleeding may be severe.