In the mid-1800s, Julia Pastrana became famous in circus freakshows as the “bearded lady”. Now scientists have discovered the genetic mutations that caused her condition.
The disorder, known as congenital generalized hypertrichosis terminalis (CGHT) with gingival hypertrophy, is characterized by excessive growth of dark hairs all over the body , distorted facial features, and enlarged gums. In some cases, people can have CGHT with normal gums. All of these diseases fall into a group of conditions called congenital generalized hypertrichosis (CGH). The disease is difficult to study because it is so rare.
After analyzing the genomes of members of three Chinese families with CGHT and one person with CGHT and gingival hyperplasia, researchers pinpointed the genetic defects to chromosome 17.