CONGENITAL ANOMALIES OF THE VULVA

Congenital anomalies of the external genitalia are quite variable. Ambiguous genitalia can present with clitoromegaly, bifid clitoris, or midline fusion of the labioscrotal folds. Clitoral agenesis is also possible as a result of failure of the genital tubercle to develop. Many of these defects are associated with other problems such as bladder extrophy. Incomplete development of the genitalia can result in a cloaca with no definite separation of the bladder and vagina. Hernial sacs may present in the newborn as vulvar masses. Similarly, any of the cell types normally found in the vulva can present at birth with overexuberant tissue development, such as a hemangioma or neuroma.

The problems of sexual identification posed by ambiguous genitalia are particularly important at birth. Caution, sensitivity, and the avoidance of hasty decisions and confusing terminology should be the rule when dealing with anxious parents and relatives. Careful physical examination, pelvic ultrasonography, hormonal studies, examination of a buccal smear for sex chromatin, karyotyping, and consultation with specialists may be necessary before the sex of rearing is assigned. In general, when there is any suboptimal development of penile or scrotal structures, the infant will be assigned a female gender because it is easier to reconstruct ambiguous genitalia to female structures than it is to build functional male genitalia. The assignment of sex will determine the need for any corrective surgery or hormonal manipulation and the manner in which the parents rear the child. These factors are all critical to the child’s proper gender identification.

Female pseudohermaphroditism is caused by masculinization occurring in utero, the infant presenting with ambiguous genitalia. Masculinization of the genetically female fetus occurs secondary to the endogenous hormonal milieu, as in congenital adrenal hyperplasia, or as a result of exogenous hormonal ingestion by the mother. Androgen-producing tumors of the ovary or adrenal gland, although rare, also cause this problem. Enlargement of the clitoris is the most conspicuous abnormality. Fusion of the labioscrotal folds also occurs in various degrees, producing a hypospadiac urethral meatus and a malpositioned vaginal orifice. Internal genital development is normal.

However, when the genetic sex is male (46 XY), there may be external phenotypic development along female lines. This occurs in the complete androgen insensitivity syndrome (testicular feminization), a genetic abnormality most commonly inherited as an X-linked recessive disorder. Because of a genetic deficiency of androgen receptors, the external genital development occurs along female lines. Testes are usually undescended and are located in the inguinal canals or the labial areas. After puberty, external genitalia are generally normal for females on examination, with the exception that the public hair is scanty or absent. In many cases, there is sufficient vaginal development to allow adequate coital activity. In utero, müllerian inhibiting substance is produced by the 46 XY fetus, which results in a lack of müllerian duct development and explains the absence of uterus or fallopian tubes. After puberty, the testes must be removed because malignant neoplastic transformation is possible. Ambiguous genitalia in an XY child can occur with partial androgen insensitivity (Figure 18-1).

FIGURE 18-1 Ambiguous genitalia in a child with an XY karyotype and partial androgen insensitivity.

(From McKay M: Vulvar manifestations of skin disorders. In Black M, McKay M, Braude P, et al [eds]: Obstetric and Gynecologic Dermatology, 2nd ed. Edinburgh, Mosby, 2003, p 121.)

Male pseudohermaphroditism may occur with varying degrees of virilization and müllerian development. This is most commonly the result of genetic mosaicism, such as 45 XO/46 XY. Many factors must be taken into account in the determination of gender role in these cases, and a full discussion of this problem is beyond the scope of this book. In a phenotypic female with a Y chromosome, localization and removal of the gonadal tissue and subsequent hormonal management are necessary (as with androgen insensitivity syndrome) because malignant neoplastic transformation may occur in these gonads.

In true hermaphroditism, which is rare, dual gonadal development occurs, either in the form of an ovotestis or as a separate ovary and testis. Although some of these cases represent mosaicism of the normal female and male chromosomal complement, the usual chromosomal pattern is 46 XX. Most true hermaphrodites have some degree of both female and male development internally and externally. The extent to which masculinization occurs depends on the relative amount of testicular tissue and its relative contribution of testosterone. Confirmation of the diagnosis requires laparotomy.

BENIGN CONDITIONS OF THE VULVA

Significant noninfectious conditions that may affect the vulva are covered in this section. Infectious conditions are covered in Chapter 22.

Structural and Benign Neoplastic Conditions

Young girls can develop labial agglutination, which is easily treated by estrogen cream and massage to separate the labia majora. Fox-Fordyce disease is characterized by a series of pruritic, raised, yellowish retention cysts (often inflamed) in the axilla, mons, or labia, which result from keratin-plugged apocrine glands.

Other cysts can also develop in the vulva, reflecting the variety of dermoid structures present. The most common are epidermal inclusion cysts and sebaceous cysts located below the epidermis, which are mobile, nontender, spherical, and slow growing. Sebaceous cysts are slightly firmer than other inclusion cysts; they are filled with dry caseous material. Most such inclusion cysts require no treatment if they are asymptomatic. The mucous glands of the vestibule and periurethral areas can become obstructed and form cystic structures. The milk line extends from the axilla to the vulva, and postpartum women can form galactoceles in the labia. Vulvar varicosities can enlarge, especially in pregnancy, to cause discomfort and pose possible risks for rupture or thrombosis.

Urethral caruncles appear as small, fleshy outgrowths of the distal edge of the urethra (Figure 18-2). In children, this results from spontaneous prolapse of the urethral epithelium. On the other hand, in postmenopausal women, the caruncle occurs when the hypoestrogenic vaginal epithelium contracts and everts the urethral epithelium.

FIGURE 18-2 Urethral caruncle. This lesion usually presents as a small, painful, red lump at the urethral meatus. In this example, transitional epithelium can be recognized, and there is a papillomatous pattern involving small, neighboring glands. A little chronic inflammation is seen.

Vulvar vestibulitis (vestibular adenitis) is a relatively rare condition in which one or more of the minor vestibular glands becomes inflamed. This condition is characterized by severe introital dyspareunia and, occasionally, vulvar pain. On examination, the lesions may be visualized as 1- to 4-mm erythematous dots that are exceedingly tender when gently touched with a cotton-tipped swab. Although described as an “itis,” vestibulitis is not an infectious process and does not respond to antibiotic therapy. Topical estrogen creams or hydrocortisone may be tried, but surgical therapy to remove the glandular area may ultimately be required. Other interventions may be necessary to deal with the associated sexual dysfunction. Women with psoriasis may complain of vulvar pruritus and burning with minimal or no apparent lesions in the vulvar area. Box 18-1 lists other chronic, noninfectious vulvar conditions commonly associated with pruritus.

BOX 18-1 Chronic, Noninfectious Conditions Commonly Associated with Vulvar Pruritus

Data from American College of Obstetricians and Gynecologists (ACOG): ACOG Practice Bulletin, No. 93, May 2008. Diagnosis and management of vulvar skin disorders. Obstet Gynecol 111:1243-1253, 2008.

Dermatoses

Atopic and contact dermatitis

Lichen sclerosus, lichen planus, lichen simplex chronicus

Psoriasis

Genital atrophy

Neoplasia^∗

Vulvar intraepithelial neoplasia, vulvar cancer

Paget’s disease

Vulvar Manifestations of Systemic Disease

Crohn disease

^∗ See Chapter 40.

The external genitalia can also be the site of benign growths. Both lentigo (freckles) and nevi (moles) can be found on the labia and must be clearly distinguished from melanomas. Often excisional biopsy is needed. Fibromas are the most common benign solid tumors that form in the deeper connective tissue of the vulva. Although fibromas are slow growing and most are 1 to 10 cm in diameter, they can become gigantic (>250 lb). Lipomas are also slow-growing tumors of the vulva, composed of adipose cells. Other tumors derive from tissue found in the external genitalia, such as hidradenoma (the apocrine gland tumor), syringoma (eccrine gland tumor), granular cell myoblastoma (neural sheath Schwann cell tumor), and neurofibroma (from von Recklinghausen’s disease). These lesions should be removed surgically if they cause any problems. Small cherry angiomas can develop in the fourth and fifth decade and appear as multiple red lesions 2 to 3 mm in diameter.

Clitoromegaly may develop after birth in response to excessive androgen exposure. In the nonerect state, the clitoris usually is 0.5 cm wide and 1 to 1.5 cm long. Clitoromegaly is a sign of virilization and is diagnosed when the product of the external clitoral length times the width at the base of the clitoris exceeds 35 mm² (in a nonerect state) in an adult woman, or the width at the base is more than 1 cm.

TRAUMATIC LESIONS

Blunt trauma to the female genitalia from falls, motor vehicle crashes, or sexual assault (see Chapter 28) most commonly results in vulvar bruising, lacerations, and hematomas. Close observation and occasionally surgical exploration may be necessary to determine the full extent of the injuries and to repair them appropriately.

Genital body piercing and tattoos can cause infection or skin irritation. The area around the piercing can develop localized skin thickening and even trauma after sexual activity.

Female genital mutilation (often termed female circumcision) has been performed on more than 150 million women worldwide and continues to be a common practice, especially in some African and Eastern Asian countries where the roles of women are tightly restricted. Box 18-2 contains the World Health Organization (WHO) classification of the four types of female genital mutilation, updated in 2008. The degree of anatomic change has a profound effect on infection risk, sexual function, and vaginal delivery.

Women who have suffered obstetric lacerations or episiotomies posteriorly into the rectum, anteriorly into the urethra, or laterally into the labia have scarring that reflects these injuries or their repairs.

EPITHELIAL CONDITIONS

In postmenopausal women, estrogen deficiency generally produces significant signs of genital atrophy. The labia minora regress. The subcutaneous fat in the labia majora shrinks, reducing the size of those structures. The most prominent change is the vaginal introitus, which can assume a prepubertal appearance and caliber, making coitus uncomfortable.

Lichen simplex chronicus (squamous cell hyperplasia) is a local thickening of the epithelium that may result from a prolonged itch-scratch cycle. Women may note pruritus and pain. Examination reveals a white or reddish, thickened, leathery, raised surface. The effects of scratching may be evident as linear excoriations. The lesions tend to be discrete but may be multiple and coexist with other vulvar pathology. Histologically, the rete ridges deepen, and there is hyperkeratosis of the superficial layer of the epidermis (Figure 18-3). Treatment includes moderate-strength steroid ointments with antipruritic agents.

FIGURE 18-3 Squamous cell hyperplasia. Microscopy shows marked hyperkeratosis and parakeratosis with a prominent granular layer. Acanthosis, with prolongation of rete ridges, is also seen, and there is a dense infiltrate of chronic inflammatory cells, mainly lymphocytes, in the superficial dermis.

Lichen sclerosis often causes intense pruritus, dyspareunia, and burning pain. Although it can develop in any body area in any aged person, it is most frequently found on the vulva of menopausal women. On examination, the skin is thin, inelastic, and white, with a crinkled, tissue paper appearance. Ultimately, lichen sclerosis can involve all the genital area from the mons to the anal area in a keyhole pattern. Biopsy reveals a thin epithelium with loss of rete ridges and inflammatory cells lining the basement membrane (Figure 18-4). Diagnosis is important because this is a chronic, progressive disease with the potential to constrict and destroy the normal genital architecture. When untreated, there is the possibility of progression to vulvar intraepithelial neoplasia (VIN), differential type. In the long term, the labia minora are lost, the labia majora flatten, the introitus becomes severely constricted, and the clitoris becomes inverted and trapped (Figure 18-5). Combinations of lichen sclerosis and dysplasia, hyperplasia, or carcinoma are possible. Multiple biopsies may be necessary to characterize completely all the pathologies present in one woman. Treatment of lichen sclerosis involves the use of potent topical steroids such as 0.05% clobetasol. Eighty percent of lesions respond. Long-term therapy with lower-potency steroids or topical emollients may be necessary.

FIGURE 18-4 Lichen sclerosis. Histology shows hyperkeratosis, but the epidermis is thinner than normal. The most striking feature of lichen sclerosis is the presence of a hyaline zone in the superficial dermis. This is the result of edema and degeneration of the collagen and elastic fibers of the dermis.

FIGURE 18-5 Vulva with lichen sclerosis.

Lichen planus presents as purplish, polygonal papules that may appear in their erosive form. Lichen planus may involve the vagina and the mouth as well as the vulva (vulvar-vaginal-gingival syndrome). The patient generally complains of vulvar burning or severe dyspareunia, especially in advanced stages when vaginal stenosis may develop. Topical and systemic steroids are recommended for treatment.

The epithelium of the vulva is susceptible to dermatologic disorders found elsewhere on the body surface, although the clinical manifestations of those disorders may be slightly different because of the vulva’s moist environment. A correct diagnosis is critical, and tissue punch biopsy may be required (Figure 18-6). Psoriasis generally appears velvety but may lack the characteristic scaly patches found on the flexor surfaces (e.g., knees and elbows). Eczema has a more erythematous presentation and may be difficult to diagnose unless lesions that are more characteristic can be found on the scalp, umbilicus, or extremities. Even in these circumstances, diagnostic biopsy may be needed to rule out conditions that are more serious. Pemphigus is an autoimmune blistering disease involving the vulvovaginal and conjunctival areas. Behçet’s syndrome classically involves ulcerations in the genital and oral areas, as well as superficial ocular lesions. The genital lesions are distinctive and can result over time in a scarred, fenestrated vulva. The etiology is unknown, as is an effective treatment. Diagnosis is based on the concurrence of vulvar, oral, and ocular involvement, the recurrent nature of the disease, and the exclusion of other conditions, such as syphilis and Crohn disease.

FIGURE 18-6 A disposable cutaneous punch biopsy instrument.

Crohn disease is primarily a gastrointestinal (GI) disorder, but vulvar ulcers can precede the development of GI ulcerations. The vulvar ulcers are slit-like or “knife-cut” ulcers with prominent edema. Draining sinuses and fistulas to the rectum may occur. Aphthous ulcers, which are superficial and painful, can be found not only on the labia but also in the mouth. Decubitus ulcers can develop in frail women over the bony prominences of their ischial tuberosities or sacrococcygeal region or in areas susceptible to friction from indwelling catheters.

Acanthosis nigricans is most commonly found in the intertriginous area, in the axilla or on the nape of the neck (see Chapter 32, Figure 32-4). It is recognizable by its darkly pigmented velvety or warty surface. Acanthosis nigricans is related most closely to insulin resistance but can be linked less commonly to other benign conditions and malignancy.

The labia are exposed to a wide range of chemicals and other foreign materials that can induce contact dermatitis (erythema and burning) or irritative changes. A careful history may identify the use of a specific irritant, such as harsh soaps, perfumed toilet paper, deodorant spray, panty liners, or latex condoms. Physical examination may reveal erythema, edema, and occasionally excoriation or ulceration. In the more chronic state, the epidermis can thicken (see discussion of squamous cell hyperplasia, earlier). Biopsy of any thickened or suspicious area is imperative at the initial examination. Later biopsy of areas unresponsive to therapy may be necessary. In the acute phase, management involves stopping all exposure to potential irritants and keeping the area dry. The use of topical mild to moderate potency corticosteroids for 1 to 4 weeks may calm the inflammatory response. Antihistamines, cold packs, and bland emollients may provide relief from the pruritus.

Vulvar intraepithelial neoplasia, Paget’s disease of the vulva, and invasive tumors of the vulva are discussed in Chapter 40.

FUNCTIONAL

Vulvodynia is a term used to describe chronic vulvar discomfort or pain with no obvious pathology. This condition, along with a similar condition called vulvar vestibulitis (see earlier), may be responsible for dyspareunia and has been associated with a visible lesion of the vulva called vestibular papillomatosis. Vulvodynia can be localized but generally is described as a burning, aching, stinging sensation involving isolated areas or the entire external genital area. Other pathology must be ruled out before the diagnosis can be applied. Many women who suffer vulvodynia share a history of prior vulvar treatments with laser, loop electrosurgical excisional procedures, or multiple topical medications. Others have a history of herpes simplex virus infection or fibromyalgia. It is thought that many of the women with vulvodynia may be suffering from peripheral neuropathy. Treatment is challenging but starts by removing all irritants. If this fails, providing a trial of low-dose tricyclic antidepressants, gabapentin-carbamazepine, or pregabalin to treat peripheral neuropathy may be effective. Pruritus may be addressed with a variety of agents, including doxepin given orally or topically. Newer treatments with estrogen, capsaicin ointments, and even botulinum toxin type A (by injection) are showing promise.

CONGENITAL ABNORMALITIES

Many variations and combinations of anomalies of the vagina occur. The more common anomalies of the vagina include canalization defects such as imperforate hymen, longitudinal and transverse vaginal septa, partial development (vaginal atresia), and double vagina. Congenital absence of the vagina (agenesis) is less common.

Imperforate hymen represents the mildest form of these canalization abnormalities. It occurs at the site where the vaginal plate contacts the urogenital sinus. After birth, a bulging, membrane-like structure may be noticed in the vestibule, usually blocking egress of mucus. If not detected until after menarche, an imperforate hymen may be seen as a thin, dark bluish or thicker, clear membrane blocking menstrual flow at the introitus (Figure 18-7). A similar anomaly, the transverse vaginal septum, is most commonly found at the junction of the upper and middle thirds of the vagina (Figure 18-8). At times, a transverse vaginal septum will have a sinus tract or small perforation that allows menstruation. Thus, the septum may become apparent only after intercourse is impeded. Patients with an imperforate hymen or transverse vaginal septum usually have normal development of the upper reproductive tract.

FIGURE 18-7 A: Vaginal bulge of an imperforate hymen in a 13-year-old who presented with pelvic pain, now constant but cyclical in the past. B: Old blood (hematocolpos) and some mucus (mucocolpos) are released after a stab incision is made through the hymen.

(From McKay M: Vulvar manifestations of skin disorders. In Black M, McKay M, Braude P, et al [eds]: Obstetric and Gynecologic Dermatology, 2nd ed. Edinburgh, Mosby, 2003, p 122.)

FIGURE 18-8 Illustration of a transverse vaginal septum.

Atresia of the vagina generally represents a more substantial lack of canalization at the caudal or cranial end of the vaginal plate. If cranially placed, the upper vagina and cervix may be absent, whereas the uterine fundus and fallopian tubes remain unaffected.

A midline longitudinal septum may be present, creating a double vagina. The longitudinal septum may be only partially present at various levels in the upper and middle vagina, either in the midline or deviated to one side. In addition, a longitudinal septum may attach to the lateral vaginal wall, creating a blind vaginal pouch, with or without a communicating sinus tract. These septa are usually associated with a double cervix and one of the various duplication anomalies of the uterine fundus, although the upper tract is often entirely normal.

Vaginal agenesis represents the most extreme instance of a vaginal anomaly, with total absence of the vagina except for the most distal portion that is derived from the urogenital sinus. If the uterus is absent but the fallopian tubes are spared, the defect is müllerian agenesis or Rokitansky-Küster-Hauser syndrome. Isolated vaginal agenesis with normal uterine and fallopian tube development is rare and is thought to be the end result of isolated vaginal plate malformation.

Adenosis of the vaginal wall consists of islands of columnar epithelium in the normal squamous epithelium. It is often located in the upper third of the vagina. The incidence of this finding is much higher in women exposed in utero to diethylstilbestrol (Figure 18-9).

FIGURE 18-9 Vaginal adenosis photographed at the time of colposcopy. Glands are not normally present in the vagina, and columnar epithelium should not be seen. In vaginal adenosis, endocervical-type glands with columnar epithelium on the surface are seen in the vaginal wall. This condition is more common in women who were exposed to diethylstilbestrol (DES).

Dysontogenic cysts of the vagina are generally thick-walled, soft cysts resulting from embryonic remnants. Gartner’s duct cysts are the most common of these. They arise from the remnant of the wolffian duct (mesonephros). They vary in size from 1 to 5 cm and are found on the anterolateral walls in the upper half of the vagina and more laterally in the lower vagina. Most are asymptomatic and require no intervention.

BENIGN CONDITIONS OF THE VAGINA

Structural and Benign Neoplastic Conditions

Urethral diverticula are small (0.3 to 3 cm), sac-like projections that can be found in the anterior vagina along the posterior urethra. As obstructed periurethral glands, they may or may not communicate with the urethra. Urethral diverticula can cause recurrent urinary tract infections, dysuria, dyspareunia, and occasionally, urinary dribbling. Most women with urethral diverticula have symptoms of chronic urinary tract infection. Urethral dilation or surgical excision of a diverticulum may be necessary.

Inclusion cysts are common lesions that result from an infolding of the vaginal epithelium. They are usually located in the posterior or lateral wall of the lower third of the vagina. They are most frequently associated with lacerations from childbirth or gynecologic surgery.

Bartholin’s cyst is the most common vulvovaginal tumor. It presents as a swelling posterolaterally in the introitus, usually unilaterally. The cyst is usually less than 3 cm in diameter and is frequently asymptomatic. Careful examination of the base of the cyst is necessary (especially in a woman older than 40 years) to rule out an underlying Bartholin’s carcinoma (see Chapter 40). Infection of the gland may result from blockage and accumulation of purulent material. When infected, a large, painful inflammatory mass can develop, and an inflatable bulb-tipped tube (Word catheter) can be inserted through a small stab incision into the mass and left in place for 4 to 6 weeks. This allows for an epithelialized tract to form that will remain open for drainage. When Bartholin’s cysts are large, symptomatic, and not infected, a marsupialization procedure can be performed (Figure 18-10).

FIGURE 18-10 Marsupialization of a Bartholin’s cyst performed to prevent reaccumulation of cyst fluid.

Another cystic structure that may be found in the upper third of the vagina is an implantation of endometriosis. Endometriosis presents as steel-gray or black cysts that may bleed slightly at the time of menstruation.

Structural changes that develop over time generally result from the loss of pelvic support. Cystoceles, now referred to as anterior vaginal prolapse, rectoceles or posterior vaginal prolapse, and enteroceles are more thoroughly discussed in Chapter 23. Ureterovaginal, vesicovaginal, and rectovaginal fistulas may result from infection, complications of surgery or radiation therapy, obstetric injury, or invasive cancer. They cause chronic vaginal discharge and considerable vulvovaginal irritation.

TRAUMA

The most common cause of vaginal trauma is sexual assault, although some superficial vaginal abrasions can occur with consensual intercourse. Focal abrasions may result from tampons (especially when used on low-flow days), a poorly fitted diaphragm, or prolonged pessary use. A lost or forgotten tampon or retained vaginal packing material most often presents with a foul-smelling vaginal discharge. Vaginal trauma can also result from other foreign objects, straddle injuries, and childbirth. Lacerations and hematomas from vaginal trauma pose significant and immediate challenges, but potential damage to surrounding bladder and bowel structures must also be evaluated.

DERMATOLOGIC

An unavoidable consequence of estrogen deficiency after menopause or with breastfeeding is vaginal atrophy. The vaginal rugations flatten, and the vaginal epithelium becomes thin, pale, and inelastic. Secretions from the Bartholin’s glands and the vaginal vault in response to sexual arousal diminish. The vaginal pH rises. This combination of atrophy at the introitus and dry, inelastic vaginal walls leads to dyspareunia and even traumatic injury with attempted coitus.

Erosive lichen planus, with its characteristic erythematous papules, can involve the vagina as well as the vulvar vestibule. Condylomata acuminata and flat warts from human papillomavirus can be found in the vaginal vault, as can herpes simplex infections.

FUNCTIONAL

Vaginismus is an involuntary contraction of the vaginal introital and levator ani muscles. Vaginismus may preclude, or render very painful, vaginal penetration during coitus, pelvic examination, or tampon use. Often a history of sexual abuse or phobias about vaginal trauma is associated with vaginismus; these misconceptions and phobias may respond to education and desensitization (see Chapter 27).