(72) Kaposiform Lymphangiomatosis as a Cause of Vaginal Bleeding & Discharge: A Case Report & Review of the Literature

Background: Kaposiform lymphangiomatosis (KLA) is a complex lymphatic anomaly (CLA) affecting children of varying ages typically involving the mediastinum or lung. It is an aggressive, systemic disorder due to somatic variants or embryonic errors, but the exact etiology is unknown. We present a patient who had an isolated presentation of vaginal bleeding and discharge.

Case: A 5-year-old female presented to a pediatric gynecology clinic with vaginal bleeding and passage of clots intermittently for 1 year. Initial workup was extensive, but inconclusive. A vaginoscopy, cystoscopy, and hysteroscopy were also non-pathologic. A Magnetic Resonance Angiography (MRA) was notable for what was thought to be a plexiform neurofibroma near the iliac chains. Plan was for evaluation by vascular surgery and neurofibromatosis clinic. Bleeding spontaneous resolved and she was lost to follow up. At 9 years of age she represented to the emergency department with exertional shortness of breath and anemia (hemoglobin of 7.1g/dl).

MRI was notable for suspected lymphangioleiomyomatosis around the vagina, cervix, uterus, rectosigmoid colon, iliac vessels, and presacral space. An ultrasound noted a prepubertal uterus. An IR guided biopsy, vaginoscopy, cystoscopy, and hysteroscopy was performed. Biopsy noted a lymphatic anomaly consistent with kaposiform lymphangiomatosis. Sequencing was attempted, but unsuccessful. A pink milky discharge was noted to be diffusely oozing from the left vaginal side wall and posterior fornix, which was cauterized. Currently, she is being treated with sirolimus, an mTOR (mammalian mechanistic target of rapamycin) inhibitor with improvement of vaginal bleeding. Plan for genetic follow up with germline testing.

Comments: This patient’s presentation of kaposiform lymphangiomatosis is notable as the only presenting symptom was long standing vaginal bleeding. The ISSVA (International Society for the Study of Vascular Anomalies) recommends whole body MRI for diagnosis. There is still little consensus on treatment; however, many patients are on an mTOR inhibitor as these tumor often have upregulation of the Ras/MAPK (mitogen-activated protein kinases) pathway. It is important to consider a CLA as a rare differential diagnosis and this presentation highlights the utility of a pelvic MRI when a prepubertal patient presents with heavy vaginal bleeding or abnormal copious discharge and typical workup is negative.