Palmar dermatoglyphics as diagnostic tool: Mayer-Rokintansky-Kuster-Hauser syndrome

The congenital anomalies involving Mullerian duct dysgenesis, the MRKH (Mayer-Rokitansky-Kuster-Hauser) syndrome overlaps a 'community of syndromes' which share, apart from a complete absence of uterus and vagina, associated presentations that include developmental abnormalities of skeletal, renal, dental and other dysmorphias. First described more than 400 years ago, this complement of anomalies now rechristened, the MRKH syndrome has been extensively studied. Found to occur once in every 4000 females; estimated on its incidence vary from 1/5000 to 1/20,000. Despite its fairly wide prevalence, this syndrome has remained largely underdiagnosed or cryptic. Social and cultural perceptions have perforce driven, the wide existence of the very personal handicap underground and unacceptable. Accidentally discovered during routine examination, during secondarily associated medical problems, the mullerian agenecies syndrome has been subject of a wide range of clinical and laboratory investigations. The oddity in the syndrome is that the patient appears absolutely normal and that it presents with no genetic marker. We herein report the palmar dermatoglyphic and doctylographic features of a patient with MRKH syndrome. However interpretation, show conclusively, at least in this single case that the MRKH syndrome can be diagnosed through its characteristic dermatography patterns. In our view, routine dermatographic study of all live females births may lead to not only an early but also a cost effective diagnostic method.