About Rothmund Thomson Syndrome

Introduction

When it comes to diseases or other health issues, we usually don’t know much about them, because that is a job for doctors. Even so, it wouldn’t hurt to learn a thing or two about causes, symptoms and a proper treatment for a certain disease. In this article, we will talk about the Rothmund Thomson Syndrome, a very rare disease, found only in some parts of the world.

About the disease

The Rothmund Thomson Syndrome is a disease that affects parts of the body, especially the skin. Reports showed that very few people were diagnosed with this rare condition, only 300 throughout the world. The first signs of the disease appear at a very early stage in life, specifically between 3 and 6 months. Babies usually have redness on their cheeks but in time it spreads to the legs and arms and the skin changes coloring. The Rothmund Thomson Syndrome persists for life, and some case it leads to skin tissue degeneration.

About the signs

As mentioned before, the first signs of the Rothmund Syndrome appear very early. There are people among the 300 that believed they simply have a skin condition, but they were actually a victim of Rothmund. The condition can be treated, but it persists for life. If it isn’t treated properly, complications might appear that can lead to serious damage to the skin. In some cases, the veins are colored in blue and can be seen from an early age.

About the symptoms

The most common Rothmund symptoms are:

- the body has a small stature because the organs do not develop properly;

- nails and teeth can develop abnormalities;

- sparse eyebrows, eyelashes and hair;

- gastro-intestinal issues from an early age (diarrhea and constant vomiting);

- eyes can get affected, sometimes leading to blindness;

These are just a few of the symptoms related to the Rothmund Thomson Syndrome. Another thing that is worth mentioned is that people who suffer from this disease have a greater risk of developing cancer. Usually, they get bone cancer because they do not develop properly in time (known as osteosarcoma). They can also develop skin cancer, since the condition affects large parts of the body. The disease is found in the RECQL4 gene in more than half of the cases. The gene provides bad instructions on how to create the proper proteins in the body while some researchers believe that the gene’s role is to stabilize the genetic information.

These symptoms are sometimes compared to those of other conditions, such as RAPADILINO and Baller-Gerold. These conditions present the same signs and symptoms and that is why researchers are searching for answers to see whether or not they are part of the same condition and ways of treatments. Another important thing to mention is that this is an inherited disease. In some cases parents do not present symptoms of the condition but they pass it on to their children. The disease is also known as: congenital poikiloderma, RTS, Rothmund-Thomson poikiloderma congenital (or simply poikiloderma congenital) and poikiloderma cataract and atropicans.

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