Hemihyperplasia: History of medicine assists medical genetics

Abstract

This paper examines the role of the history of medicine in case of congenital isolated hemihyperplasia. Isolated hemihyperplasia is a genetic disorder in which one side of the body grows more than the other, causing visible lateral asymmetry of the human body. The date of the occurrence of the genetic mutation that leads to hemihyperplasia is not known yet. The aim of the current research was to confirm or to disprove the fact that isolated hemihyperplasia was first described in the first half of the 19th century. Using the case of hemihyperplasia we aimed to demonstrate how historical analysis may assist medical genetics in cases when estimating a mutation date is necessary. Medical literature from 1573 onwards was searched for any mention of hemihypertrophy, hemihyperplasia, hemi-gigantism, partial gigantism, hemi-macrosomia and other possible descriptions for pathological lateral body overgrowth. Historical analysis suggests that the mutation in question occurred in the first half of the 19th century, approximately 200 years ago. This led to the appearance of hemihyperplasia and subsequent hemihyperplasia-including syndromes. An additional genetic research is needed for investigation of the development of the involved chromosomal region instability since this period. Such research may use the timeline orientation provided by the history of medicine.