Hereditary Telangiectasia: A Dermatological Perspective

Hereditary Hemorrhagic Telangiectasia

I have had small red spots from my hands to my arms since childhood.
The most are on my palms, and they are neither itchy nor painful, nor do they protrude.
They tend to increase in number when I get warm, and they have also slightly enlarged over the years.
I am the eldest daughter, and I have the most spots.
My second sister has only a few, while my younger sister has never seen a doctor.
It was diagnosed as hereditary vascular dilation when I was very young.
However, I wonder why only the eldest daughter has so many.
After physical education classes or exercise, my classmates often question me about it.

barbbie, 10~19 year old female. Ask Date: 2005/04/24

Dr. Huang Ruiyun reply Dermatology

If diagnosed at a very young age, it is recommended that you visit a dermatology department at a medical center to confirm the diagnosis and determine if long-term follow-up is necessary.
This condition is inherited in an autosomal dominant manner, so the probability of inheritance is 50%.

Reply Date: 2005/04/24

More Info

Hereditary telangiectasia, often referred to as hereditary hemorrhagic telangiectasia (HHT), is a genetic disorder characterized by the presence of small, dilated blood vessels (telangiectasias) that can appear on the skin and mucous membranes. These vascular lesions are typically red or purple and can be found on various parts of the body, including the face, hands, and arms. In your case, the red spots you describe on your hands and arms that become more prominent with heat and physical activity are consistent with this condition.

The inheritance pattern of hereditary telangiectasia is usually autosomal dominant, meaning that only one copy of the mutated gene from an affected parent can cause the condition in offspring. This explains why you, as the eldest daughter, may exhibit more pronounced symptoms compared to your siblings. Genetic variability can lead to different expressions of the condition within the same family, which is why some siblings may have fewer or less noticeable symptoms.

While the presence of telangiectasias is generally benign and does not cause pain or itching, they can sometimes lead to complications, particularly if they occur in internal organs. For instance, individuals with HHT may experience bleeding from these vascular lesions, especially in the nose or gastrointestinal tract. Therefore, it is essential to monitor any changes in the lesions, such as increased size, bleeding, or new symptoms.

Regarding your concern about the visibility of these spots during physical activities, it is not uncommon for telangiectasias to become more pronounced with increased blood flow and body temperature. This is a physiological response and does not indicate a worsening of the condition. However, if you experience any discomfort or if the lesions begin to bleed, it would be prudent to consult a dermatologist or a healthcare professional familiar with vascular disorders.

In terms of management, there is no cure for hereditary telangiectasia, but there are treatment options available to manage symptoms. For cosmetic concerns, laser therapy can be effective in reducing the appearance of telangiectasias. Additionally, maintaining good skin care practices and protecting your skin from excessive sun exposure can help minimize the visibility of these vascular lesions.

If you have not already done so, it may be beneficial to undergo genetic counseling. This can provide you with more information about the condition, its inheritance, and the potential implications for your family members. Understanding the genetic basis of your condition can also help you make informed decisions about your health and any future family planning.

In summary, hereditary telangiectasia is a genetic condition that can lead to the development of red spots on the skin, particularly in response to heat and physical activity. While it is generally benign, monitoring for any changes and consulting with a healthcare professional can help manage the condition effectively. If you have further concerns or questions, do not hesitate to reach out to a dermatologist for personalized advice and treatment options.

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