About short stature and facial telangiectasis
What is short stature and facial telangiectasis?
Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune deficiency leading to increased susceptibility to infections; and, perhaps most Importantly, a markedly increased susceptibility to cancer of any organ, but especially to leukemia and lymphoma. Some clinicians classify Bloom syndrome as a chromosomal breakage syndrome; that is, a disorder associated with a high frequency of chromosomal breaks and rearrangements. It is suspected that there is a link between the frequency of chromosomal breaks and the increased propensity toward malignancies.
Bloom syndrome is inherited as an autosomal recessive genetic trait. It is often included among the Jewish genetic diseases.
What are the symptoms for short stature and facial telangiectasis?
Telangiectases can be uncomfortable. They are generally not life-threatening, but some people may not like how they look. They develop gradually, but can be worsened by health and beauty products that cause skin irritation, such as abrasive soaps and sponges.
- pain (related to pressure on venules)
- threadlike red marks or patterns on the skin
The symptoms of HHT include:
- frequent nosebleeds
- red or dark blood in stools
- shortness of breath
- small strokes
- port-wine stain birthmark
What are the causes for short stature and facial telangiectasis?
The exact cause of telangiectasia is unknown. Researchers believe several causes may contribute to the development of telangiectases. These causes may be genetic, environmental, or a combination of both. It’s believed that most cases of telangiectasia are caused by chronic exposure to the sun or extreme temperatures. This is because they usually appear on the body where skin is often exposed to sunlight and air.
Other possible causes include:
- alcoholism: can affect the flow of blood in vessels and can cause liver disease
- pregnancy: often applies large amounts of pressure on venules
- aging: aging blood vessels can begin to weaken
- rosacea: enlarges venules in the face, creating a flushed appearance in cheeks and nose
- habitual corticosteroid use: thins and weakens the skin
- scleroderma: hardens and contracts the skin
- dermatomyositis: inflames skin and underlying muscle tissue
- systemic lupus erythematosus: can increase skin sensitivity to sunlight and extreme temperatures
The causes of hereditary hemorrhagic telangiectasia are genetic. People with HHT inherit the disease from at least one parent. Five genes are suspected to cause HHT, and three are known. People with HHT receive either one normal gene and one mutated gene or two mutated genes (it only takes one mutated gene to cause HHT).
What are the treatments for short stature and facial telangiectasis?
Treatment focuses on improving the appearance of the skin. Different methods include:
- laser therapy: laser targets the widened vessel and seals it (this usually involves little pain and has a short recovery period)
- surgery: widened vessels can be removed (this can be very painful and may lead to a long recovery)
- sclerotherapy: focuses on causing damage to the inner lining of the blood vessel by injecting it with a chemical solution that causes a blood clot that collapses, thickens, or scars the venule (there’s usually no recovery needed, although there may be some temporary exercise restrictions)
Treatment for HHT may include:
- embolization to block or close a blood vessel
- laser therapy to stop bleeding
What are the risk factors for short stature and facial telangiectasis?
Telangiectasia is a common skin disorder, even among healthy people. However, certain people are more at risk of developing telangiectases than others. This includes those who:
- work outdoors
- sit or stand all day
- misuse alcohol
- are pregnant
- are older or elderly (telangiectases are more likely to form as skin ages)
- have rosacea, scleroderma, dermatomyositis, or systemic lupus erythematosus (SLE)
- use corticosteroids
Is there a cure/medications for short stature and facial telangiectasis?
Short stature and facial telangiectasis is a condition where the height of the human body is shorter than the average height of the same age.
Genetics is the major factor in determining the height; however, many underlying conditions might be the cause. There are several genetic conditions, Bone & Skeletal diseases, Chronic diseases and endocrine diseases that impact healthy development and result in abnormal structure in the child.
Some of the disorders such as Bloom syndrome and Hereditary hemorrhagic telangiectasia show symptoms of facial telangiectasis.
- Laser is the most effective treatment for facial telangiectasis and broken capillaries.
- The laser points at the blood cells in vessels inducing thermal injury, which seals them.
- This procedure does not cause pain most of the time; however, some patients might see increased redness.
- One can resume your daily routine in a day or two after the treatment.
- Some conditions will require surgery where the impacted vessels are sealed.
- Your surgeon might opt for sclerotherapy which involves chemical solution injection.
- The caregiver will gently clean the skin and apply a soothing ointment base in the occurrence of crusting or blistering.
- A few might experience mild to moderate swelling after these procedures which often subsides in due time.
Pain,Itching skin,Threadlike marks,Enlarged venules
Dwarfism,Bloom syndrome,HTT (Osler-Weber-Rendu syndrome)