Vaginal atresia is a rare condition. It occurs in 1:4,000 to 1:10,000 females, and the prevalence of Mayer–Rokitansky–Kuster–Hauser syndrome has been reported at 1 in 4,000 to 1 in 5,000 live births [1].

Most of the cases of vaginal atresia reported are syndromic; a lot of syndromes had vaginal atresia as a main manifestation; complete vaginal agenesis is discovered in 75 % of patients with Mayer–Rokitansky–Kuster–Hauser syndrome, which is a rare developmental failure of Müllerian ducts (described by Mayer in 1829) [2], with uterine anomalies (described by Rokitansky in 1838 and Kuster in 19103) [3]; it is defined as Müllerian aplasia with vaginal agenesis and uterine remnants; the patient karyotype is 46 XX. Approximately 25 % of patients have a short vaginal pouch. Some girls may have rudimentary uterine horns. The ovaries are normal, and the fallopian tubes are usually present. It is commonly associated with renal and sometimes vertebral and other skeletal anomalies. Others syndromes include Bardet–Biedl syndrome, Fraser syndrome, and Winter syndrome [4].

Clinical findings vary depending on the anatomy of the vaginal outlet and the changes in the upper vagina and uterus. The upper vagina becomes enormously distended when the girl starts to menstruate, usually producing a palpable abdominal mass arising from the pelvis. The fallopian tubes can be normal, although they may be distended allowing escape of the fluid into the peritoneum. Other anomalies are occasionally seen with hydrometrocolpos.

Therapy is directed to relieve the obstruction of the vaginal outlet and provide normal sexual life and reproductive function. Vaginal reconstruction is required, sometimes by an abdominoperineal approach, but stenosis and fistula formation could complicate the postoperative period.

Vaginal adenosis

Vaginal polyps are very rare tumors with a polypoid or pedunculated appearance and not only may raise the specter of sarcoma botryoides in the clinician’s mind but also may have bizarre histological features suggesting malignancy, compounding the clinical confusion.

There are several theories regarding the histogenesis of the tubulo-squamous vaginal polyp. The Müllerian and Wolffian origin as well as the origin from the urogenital sinus or from vaginal adenosis was hypothesized. Other possible theories include the derivation from mesonephric remnants or misplaced Skene’s glands. This theory is supported by the fact that some of the reported cases showed PSA and PSAP positivity. Müllerian elements invade the sinovaginal bulb [9].

It may be presented with excessive vaginal discharge or bleeding spots in napkins or underwear. Excision and biopsy is mandatory (Fig. 12.6) [11].

Rhabdomyosarcoma of the vagina, botryoid rhabdomyosarcoma

Sarcoma botryoides is a subtype of embryonal rhabdomyosarcoma that can be observed in the walls of hollow, mucosa-lined structures such as the nasopharynx, common bile duct, urinary bladder of infants and young children, or vagina in females, typically younger than age 8.

The term botryoides (means shaped like a bunch of grapes) was first used by Pfannenstiel in 1892, although this case was first reported by Weber in 1867 [12].

It is one of the most common soft tissue tumors in children. After the head and neck, vaginal rhabdomyosarcoma is the second most common site for embryonal rhabdomyosarcoma [13].

Sarcoma botryoides is a polypoid form of embryonal rhabdomyosarcoma, usually present with vaginal bleeding, discharge, and the appearance of a hemorrhagic grapelike mass protruding from the vaginal introitus. The anterior vaginal wall is more commonly involved than the posterior. Very few cases had been reported to originate from the cervix in young age, but this is not the case in older females. The tumor infiltrates widely under the intact vaginal epithelium and later invades the vesicovaginal or rectovaginal septa to involve the bladder or less commonly the rectum producing sometimes a fistulous tract (Figs. 12.7 and 12.8).