What are other Names for this Condition? (Also known as/Synonyms)

• Telangiectatic Cutaneous Mastocytosis
• TMEP (Telangiectasia Macularis Eruptiva Perstans)

What is Telangiectasia Macularis Eruptiva Perstans? (Definition/Background Information)

• Mastocytosis is a rare disorder that results from often abnormal and excessive numbers of mast cells in the skin and, rarely, in the organs. When the skin is affected, it is known as cutaneous mastocytosis; when the skin and other organs are affected, it is known as systemic mastocytosis
• Mast cells, which reside in the connective tissue, store chemicals important to initializing the inflammatory and allergic responses. Once activated, mast cells release chemicals including heparin, histamine, and serotonin that stimulate the body’s inflammatory response
• Telangiectasia Macularis Eruptiva Perstans (TMEP) is the least common form of cutaneous mastocytosis. The condition mostly affects young adults, causing red brown skin lesions and formation of spider veins in the affected area
• The tests to diagnose Telangiectasia Macularis Eruptiva Perstans include general physical examinations, blood tests, skin biopsies, and genetic testing to detect KIT gene mutations. An absence of systemic signs and symptoms is important in establishing a diagnosis of TMEP
• Presently, there are no standard treatment options for mastocytosis. Generally, management of the symptoms and controlling the inflammatory response is needed; this may involve anti-histamine treatment. Telangiectasia Macularis Eruptiva Perstans is a generally persistent condition that may develop into systemic forms of mastocytosis

Who gets Telangiectasia Macularis Eruptiva Perstans? (Age and Sex Distribution)

• Telangiectasia Macularis Eruptiva Perstans is the rarest form of mastocytosis
• Most cases are observed in young adults. Children and older adults are also affected but to a lesser extent
• Both males and females are equally susceptible to the condition
• Worldwide, it can affect all racial and ethnic groups

What are the Risk Factors for Telangiectasia Macularis Eruptiva Perstans? (Predisposing Factors)

• A majority of Telangiectasia Macularis Eruptiva Perstans cases are observed in young adulthood
• A positive family history is rarely observed in mastocytosis; and, no other specific risk factors have been identified

However, in general, the following are believed to increase one’s susceptibility to mastocytosis:

• Smoking
• Exposure to radiation and industrial chemicals
• Chemotherapy
• In rare cases, viral infections

There are also a host of factors that may trigger histamine release further aggravating the skin signs and symptoms in mastocytosis. Some of these include:

• Medications such as opioid painkillers, non-steroidal anti-inflammatory drugs (NSAIDs), vitamin supplements, antibiotics, anticholinergics, etc.
• Venom injection from snake bites and bee stings
• Emotional stress
• Lack of sleep
• Hot or cold weather, and temperature changes
• Certain viral and bacterial infections
• Iatrogenic factors such as application of local anesthetic, vaccines, administration of contrast media, and even certain invasive procedures

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Telangiectasia Macularis Eruptiva Perstans? (Etiology)

The cause of formation of Telangiectasia Macularis Eruptiva Perstans is mostly due to mutations in the KIT gene.

• In a vast majority of cases, the condition occurs sporadically. In some cases, it is caused by unknown factors
• Occasionally, when cutaneous mastocytosis is inherited, an autosomal dominant pattern of inheritance is noted

What are the Signs and Symptoms of Telangiectasia Macularis Eruptiva Perstans?

The signs and symptoms of Telangiectasia Macularis Eruptiva Perstans (TMEP) may vary from one individual to another. It may be mild or severe. The signs and symptoms may include:

• Numerous small red-brown spots with irregular borders that form on skin
• These persistent lesions are typically between 2-6 mm in size
• The chest, back, and arms and legs are initially affected; the condition then tends to involve the entire body
• A symmetrical pattern of the lesions (on both sides of the body) may be seen; in a few cases, only one-sided involvement is present
• The skin may present tiny dilated blood vessels termed telangiectasias (or spider veins), which may be extensive
• Darier sign: It is the activation of mast cells by rubbing an area of the affected skin, which results in reddish skin that is itchy and swollen. This is usually seen in young children, within a few minutes of rubbing/scratching the skin
• Itching that is associated with other forms of skin mastocytosis is not observed in TMEP

In some individuals, the following non-skin signs and symptoms may be noted:

• Face and body may appear flushed
• Elevated heart rate
• Reduced blood pressure
• Heartburn
• Diarrhea

It is reported that when only one side of the body is affected, systemic signs and symptoms are not generally observed.

The presence of triggers, such as certain medications, sunlight, or medical procedures, may cause a flare up (inflammatory response) of the signs and symptoms.

How is Telangiectasia Macularis Eruptiva Perstans Diagnosed?

The following are some tests and exams that may be used in the diagnosis of Telangiectasia Macularis Eruptiva Perstans:

• Physical exam to detect skin abnormalities and comprehensive medical history evaluation
• The healthcare provider may attempt to elicit the Darier’s sign by rubbing or stroking one or more of the skin lesions. This may be often the only noninvasive test needed to establish a diagnosis. If systemic disease is considered based on medical history or a general physical exam, further tests may be undertaken
• Blood smear to detect:
  • Increased numbers of mast cells
  • Abnormally-shaped mast cells
  • Reduced numbers of red blood cells (anemia)
  • Reduced numbers of platelets (thrombocytopenia)
• Blood tests to detect:
  • Elevated total tryptase levels indicating mast cell increase to evaluate possible systemic disease
  • Elevated lactate dehydrogenase levels
  • Elevated alkaline phosphatase levels indicating possible bone involvement in systemic disease
• Skin biopsy to detect:
  • Clusters of mast cells
  • Abnormally-shaped mast cells
• Genetic tests to detect a KIT mutation, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Telangiectasia Macularis Eruptiva Perstans?

Following are some of the complications that may arise from Telangiectasia Macularis Eruptiva Perstans:

• Emotional stress
• Uncontrollable inflammatory and allergic reactions; severe reactions may result in anaphylaxis that can be life-threatening
• Permanent tissue scarring
• Severe discomfort
• Treatment-related complications

A progression of Telangiectasia Macularis Eruptiva Perstans to systemic mastocytosis is not uncommon.

How is Telangiectasia Macularis Eruptiva Perstans Treated?

Telangiectasia Macularis Eruptiva Perstans treatment depends on the severity of the skin condition, and on the age and health status of the individual. However, there is no cure for the condition.

• If the condition is confined/localized to a region and is “symptomless”, no treatment may be necessary
• Avoiding and/or controlling the triggers that worsen the condition is important
• Antihistamine therapy may be recommended in some individuals
• Symptomatic cutaneous mastocytosis may be treated with phototherapy (PUVA or UVB)
• In case of anaphylaxis, subcutaneous epinephrine or adrenaline may be administered

Periodic monitoring or follow-up of the condition with the healthcare provider is recommended.

How can Telangiectasia Macularis Eruptiva Perstans be Prevented?

Presently, it may be difficult to avoid Telangiectasia Macularis Eruptiva Perstans. However, some of the following factors may be considered:

• If there is a family history of the condition, then genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• Identify, avoid, or control the triggers for the condition
• Limit exposure to radiation and industrial chemicals 
• Cessation of smoking

Other home care tips include:

• Always keeping skin clean and healthy
• Wearing gloves while applying ointment on the blisters is advised
• Children’s nails should be cut short so that infection from scratching the blisters can be avoided
• Frequent washing of hands is recommended
• The affected child or adult is best advised to stay indoors in case of any “flare ups”
• Patients may be advised to carry injectable epinephrine to overcome serious allergic reactions

Some narcotics used in general anesthesia can cause mast cells to release their chemicals, including histamine, leading to shock. Patients must be told to inform all physicians of their mast cell disease to protect them from this. A ‘permanent’ passive reminder such as a MedicAlert device is strongly recommended.

What is the Prognosis of Telangiectasia Macularis Eruptiva Perstans? (Outcomes/Resolutions)

• The prognosis of Telangiectasia Macularis Eruptiva Perstans (TMEP) may vary from one individual to another depending on its severity
• In some cases, these persistent lesions may result in the development of TMEP to systemic mastocytosis

Additional and Relevant Useful Information for Telangiectasia Macularis Eruptiva Perstans:

Recently, it has been shown that the chemicals released by mast cells also affect the activities of the bone cells. These include bone-building osteoblasts and bone-digesting osteoclasts. Mast cells have been linked to stimulation of osteoclasts and inhibition of osteoblasts, resulting in bone deficiencies.