While humanity has successfully overcome such major deadly diseases of the past as cholera, plague and smallpox, certain rare conditions called genomic disorders whose reasons lie deeper than infection’s ones bring new challenges for science. And though these issues are generally far less dangerous and may not even bring any physical pain with them, the perks of living with genomic conditions are far from satisfactory.
Congenital generalized hypertrichosis, or Werewolf syndrome, is one of such conditions.Genomic disorders constitute qualitatively small, but still considerable from the scientific point of view class of health disorders. This kind of issues also draws researchers’ attention in the light of the fact that general number of genomic disorders has been growing noticeably in the recent years. Such conditions are caused by a certain genomic rearrangement that either breaks a gene’s structural integrity or leads to its absence or gain of an extra one. People with this condition, that is also called ‘werewolf syndrome’, may have hair all over their body, including face. Hair distribution patterns differ slightly for males and females, with the former having excessive amount of hair all over a body and the latter experiencing milder and more asymmetric growth of hair. Also, some minor face deformities have been noticed, such as nasal openings tipped upwards, jaw protrusion etc. Back in the Middle Ages, where first documented cases of this condition were described, people having the disorder were exhibited for public entertainment in circuses, fairs or other amusement places. For quite a long time scientists were unable to gather enough information regarding this problem because of unclear patterns of its development and inability to make solid conclusions on the base of it. By this time there are about a hundred of documented cases of congenital generalized hypertrichosis all over the world. However, it has been established that this kind of anomaly runs in families and was traced back to a Mexican family with disruption of a part of the X-chromosome back in 1995.
Still, the reasons that had caused such a mutation remained unclear.It passes in generations through X-chromosome. Anyhow, it is important to find out whether hypertrichosis is a sole issue to deal with or it is a part of a more complex condition or some bigger genetic syndrome. After proper diagnosis has been made, patients can undergo various hair removal procedures, such as laser, electrolysis, chemical agents of simple shaving. Though it may appear that existence of such disorder has no benefits for anyone, especially its carriers, scientists have put forward a hypothesis that closer research on the damaged part of the X-chromosome and figuring out what sequences trigger excessive hair growth may result into a breakthrough in treating baldness or hirsutism.
American Journal of Human Genetics has published a detailed study on congenital generalized hypertrichosis, its origin and properties, and potential use that can be applied for the better of many people suffering from hair loss/absence and its overgrowth alike.