Disorders of Vulva, Vagina and Cervix

The uterus, cervix, and fallopian tubes are part of the internal female reproductive system. The fallopian tubes receive an ovum after ovulation and help move it and/or a fertilized embryo toward the uterus via ciliated cells lining the tubes and peristaltic movements of its smooth muscle. The uterus has a thick wall made of smooth muscle (the myometrium) and an inner mucosal layer (the endometrium). The most inferior portion of the uterus is the cervix, which connects the uterine cavity to the vagina. Externally, the cervix is lined by stratified squamous cells; however, the cervical canal is lined by columnar epithelium. The transition point is known as the squamocolumnar junction, which is the site of most cervical cancers. These organs are supplied by the uterine and ovarian arteries and innervated by the autonomic nervous system.

There are multiple different types of malignancies that can affect the vulva. The most common histologic type is squamous cell carcinoma (SCC), which accounts for approximately 75%–85% of all vulvar cancers. Other types include melanoma, basal cell carcinoma, sarcoma, malignancy of the Bartholin glands, and Paget disease of the vulva (an adenocarcinoma). Squamous cell carcinoma is typically associated with either high-risk HPV infection or lichen sclerosus. Vulvar cancer presents as vulvar lesions that can have a variety of appearances, which may include warty or nodular masses, scaly plaques, pigmented lesions, and ulcers; pruritus is also common. Diagnosis usually requires a biopsy, and management is primarily with surgical excision. Unfortunately, lymph node metastasis occurs early in the natural history of the disease and is associated with a poor prognosis.

Primary vaginal cancers are malignant tumors that originate from cells in the vagina. Squamous cell carcinoma (SCC) is by far the most common (80%–85%); other histologic types include adenocarcinomas, sarcomas (including sarcoma botryoides, typically seen in children), and melanomas. Vaginal SCC is most commonly associated with HPV infections, while clear cell adenocarcinomas are associated with in utero exposure to diethylstilbestrol (DES). Individuals typically present with vaginal bleeding and/or an irregular mass or lesion on exam; other symptoms may include abnormal discharge, pain, and urinary or defecatory symptoms. A biopsy is required for diagnosis. Staging is based on tumor size, extent of local invasion, and metastasis. Management may be surgical for stage I disease, but surgery is typically avoided in advanced disease, which is instead managed with radiation and chemotherapy.

There are several benign vulvar diseases, but some of the most common are Bartholin cyst and abscess, lichen sclerosus, and lichen simplex chronicus. Bartholin cysts are formed due to an obstruction in the excretory duct that causes retention of their secretions (lubricating mucus). Bartholin cysts present as nontender fluctuant masses at the 4 and/or 8 o'clock positions in the labia. If a Bartholin cyst becomes infected, it can develop into an extremely painful abscess. Lichen sclerosus is a chronic dermatologic condition that causes progressive thinning and fibrosis of the vulvar, perineal, and perianal skin, and presents classically with itching and white plaques. Lichen simplex chronicus is a thickening of the vulvar skin due to chronic itching or rubbing, which often occurs in the setting of atopic or contact dermatitis.

Congenital malformations of the female reproductive system are any congenital anomalies that affect the ovaries, fallopian tubes, uterus, cervix, hymen, and/or vulva. Any of these anomalies can affect the normal reproductive and sexual functions of affected women. The cause is usually unknown. Clinically, these patients typically present with menstrual and/or fertility issues, with the exact presentation varying based on the patient’s anatomy. Diagnosis is primarily based on history, physical examination, and imaging with pelvic ultrasonography and/or pelvic MRI. Management depends on the type of defect(s) present and often involves surgical correction and/or hormone replacement. Most malformations can be managed well and have a good prognosis. Associated complications are infertility and the psychosocial and emotional impact of having “abnormal” genitalia.

The vulva is the external genitalia of the female and includes the mons pubis, labia majora, labia minora, clitoris, vestibule, vestibular bulb, and greater vestibular glands. The vagina is the female genital canal, extending from the vulva externally to the cervix uteri internally. The structures have sexual, reproductive, and urinary functions and a rich blood supply, mainly arising from the internal iliac artery.

Condylomata acuminata are a clinical manifestation of genital HPV infection. Condylomata acuminata are described as raised, pearly, flesh-colored, papular, cauliflower-like lesions seen in the anogenital region that may cause itching, pain, or bleeding. Sexual contact is a common route of spread for HPV. While seen in all populations and ages, condylomata acuminata is most often seen in adolescence. HPV types 6 and 11 are responsible for 90% of warts and are considered low risk for malignancy; however, other types of HPV should be considered. Lesions rarely self-resolve; however, they can be removed via cryotherapy or topical antimitotic agents. While there is currently no treatment for HPV infection, it can be prevented through vaccination.

Cervical cancer, or invasive cervical carcinoma (ICC), is the 3rd most common cancer in women in the world, with > 50% of the cases being fatal. In the United States, ICC is the 13th most common cancer and the cause of < 3% of all cancer deaths due to the slow progression of precursor lesions and, more importantly, effective cancer screening. There are 2 major histologic types of ICC: squamous cell carcinoma (SCC) and adenocarcinoma. High-risk human papillomaviruses (hrHPVs) cause > 99% of SCCs and > 85% of adenocarcinomas. Early cervical neoplasia is asymptomatic, and diagnosis is made using routine screening methods, including the cervical Papanicolaou test with cytology, hrHPV testing, and biopsy. Treatment of precursor or dysplastic lesions depends on the severity of the dysplasia and the age of the patient. Management of ICCs depends on the stage and varies from excisional biopsy by cervical cone biopsy for microinvasive ICC to radical hysterectomy for more advanced cases. If there is extracervical spread, radiation and chemotherapy would be recommended.

Lichen planus (LP) is an idiopathic, cell-mediated inflammatory skin disease. It is characterized by pruritic, flat-topped, papular, purple skin lesions commonly found on the flexural surfaces of the extremities. Other areas affected include genitalia, nails, scalp, and mucous membranes. Exact etiology is unknown but has been found to be associated with hepatitis C infection, other diseases, and multiple drugs. Skin biopsy of the most prominent lesion is used for confirmation of the diagnosis. Cutaneous LP usually resolves in 1–2 years. Other forms, however, are chronic and persistent. Topical corticosteroids are the preferred treatment.