A gynecologic presentation of mixed phakomatosis

The case of a 31-year-old Jamaican woman with mixed phakomatosis is presented whose main complaint, bringing her to medical attention, was intractable vaginal bleeding. A previously undescribed form of uterine pathology, including hypertrophic varicose channels within the endometrium, represented the underlying cause for the patient's bleeding. The histological picture was similar to the vascular pathology in other organ systems. It is suggested that the reproductive organs may be involved in the systemic disease process of phakomatoses in a similar way as other, already recognized, organs. The phakomatoses are a group of poorly understood and underrecognized disorders. As multisystemic processes, myriad signs and symptoms may offer a clue to their diagnosis. The presentation of a mixed phakomatosis as a gynecological disorder, however, has not been reported. The following case illustrates this unusual mode of presentation.