Phakomatoses in reproductive medicine

The phakomatoses represent a group of poorly understood and probably underrecognized genetic disorders which, in their classic forms, have a number of common appearances, involving mainly gross deformities of skin, bone, and nervous tissue (1). The most commonly encountered phakomatoses are listed in Table I. The name is derived from the Greek Phakos, a word with multiple meanings, one of which is 'birthmark'. This group of disorders has been attended to in the past primarily by neurologists and dermatologists. In spite of their genetic etiology, and in spite of the recent recognition that phakomatoses represent multisystem processes, little or no attention has been given to reproductive aspects of this group of disorders. Investigating the literature, we were, in fact, unable to locate a single publication covering the subject specifically. Our interest in the reproductive aspects of phakomatoses was triggered by the unusual gynecologic presentation of such a case. A short summary is presented here, to demonstrate the possible reproductive repercussions, which phakomatoses may exhibit on the life of afflicted women. It is our belief that with increasing awareness more of these cases will be diagnosed. A larger variety of reproductive pathology should then be recognized.