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

• CMTC (Cutis Marmorata Telangiectatica Congenita)
• Van-Lohuizen Syndrome

What is Cutis Marmorata Telangiectatica Congenita? (Definition/Background Information)

• Cutis Marmorata Telangiectatica Congenita (CMTC) is described as a congenital birth mark. ‘Cutis marmorata’ means a reddish marble-like appearance of skin following exposure to cold weather; ‘telangiectatica’ indicates permanent widening of blood vessel; and ‘congenita’ indicates that the condition is present at birth
• CMTC is an uncommon disorder and can occur sporadically (random) in any newborn. This defect is due to abnormally widening blood vessels of the skin, most commonly observed in the lower limbs
• It is important to differentiate CMTC from normal (physiological) cutis marmorata, which is seen in some children when they are exposed to cold weather and disappears on rewarming. CMTC lesions are clearly distinguishable from surrounding skin and do not disappear on rewarming in comparison to physiologic cutis marmorata
• Although CMTC is a benign (non-cancer, harmless) condition with a good prognosis, it is important to identify the lesions, because some children may have other troublesome associated conditions
•  Telangiectatica Congenita can be associated with other congenital anomalies such as asymmetrical growth of the hands and legs (e.g. one leg may be fatter than the other), congenital glaucoma (increased pressure in the eyes), fusion of two or more fingers (syndactyly), and Kartagener’s syndrome (abnormality with cilia of the respiratory tract, leading to frequent infections)
• The exact cause and mechanism of development of this disorder is unknown. Hence, there are no identifiable risk factors that can help prevent CMTC from occurring
• In most individuals no treatment is required for CMTC and the prognosis is very good in those with no associated conditions

Who gets Cutis Marmorata Telangiectatica Congenita? (Age and Sex Distribution)

• Cutis Marmorata Telangiectatica Congenita is a birth defect. Sometimes, it may be seen later, in the first 2 years of life
• A few cases have been reported in adults, probably due to a late diagnosis of the condition
• Only around 300 cases of CMTC have been reported worldwide, and hence, the exact distribution (presence or spread) among different races, ethnicities, and genders is not yet characterized

What are the Risk Factors for Cutis Marmorata Telangiectatica Congenita? (Predisposing Factors)

• Currently, there are no known definitive risk factors associated with Cutis Marmorata Telangiectatica Congenita (CMTC)
• Based on literature review (study on available data), viral infections, teratogens (substances causing defects in the fetus), and/or genetics (family history) may play a role in the development of CMTC

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones 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 Cutis Marmorata Telangiectatica Congenita? (Etiology)

The exact cause and mechanism of Cutis Marmorata Telangiectatica Congenita development is currently unknown. However, the following observations have been made by different researchers:

• Multiple factors may play a role in the development of CMTC
• It is usually a sporadic disorder with a random occurrence
• There may be a family history in some individuals. Some suggest that it may be inherited as an autosomal dominant disorder (hereditary)
• Unknown teratogens (substances causing defects in the fetus) may cause CMTC
• Some researchers suggest that CMTC is exhibited due to a phenomenon called mosaicism, where cells have a different genetic structure within the same individual (normally, all cells have the same genetic structure)

What are the Signs and Symptoms of Cutis Marmorata Telangiectatica Congenita?

The signs and symptoms of Cutis Marmorata Telangiectatica Congenita include:

• The affected skin has a “marble-like”, “fish-net like” (reticular) appearance. The lesion is ‘red to deep red to violet’ in color. The dilated vessels (capillaries or veins) can be seen through the skin
• These lesions become prominent on exposure to cold weather. The appearance does not change on rewarming of the area, which differentiates it from physiologic cutis marmorata (that disappears on rewarming)
• CMTC is usually localised to a region or occasionally widespread. It is mostly seen on the lower limbs. Occasionally, it may involve the hands and trunk. When the trunk is involved, it is usually restricted to one half of the body
• The overlying skin may have ulceration or may be atrophic (due to tissue breakdown). The skin lesions usually disappear within the first two years of life, else completely disappear before puberty

The main health concern with CMTC is its association with other conditions that need detailed evaluation and follow-up.

• The most common association is limb asymmetry with either hypertrophy (increase in size) or hypotrophy (decrease in size) of the limbs. This is due to underdevelopment (hypoplasia) of muscle and fat present under the skin
• The other associations include congenital glaucoma (increased pressure in the eyes), benign blood vessel tumours on the skin (such as capillary haemangioma, cavernous haemangioma, port-wine stains), and other conditions

How is Cutis Marmorata Telangiectatica Congenita Diagnosed?

The following procedures may be used to help diagnose Cutis Marmorata Telangiectatica Congenita:

• Thorough evaluation of the individual’s medical history and a thorough physical examination including of the skin, musculoskeletal system, head, eye, and other body parts
• During history taking the physicians may want to know the following:
  • When the symptoms began and whether they are becoming worse
  • Personal and family history of skin condition, pregnancy history of the mother, etc.
• Neurologist, orthopaedic, and ophthalmologist consultation, with detailed evaluation of the whole body is often necessary, to rule-out or diagnose any associated conditions

CMTC is a clinical diagnosis (based on history and physical examination) and no other tests are required to diagnose CMTC skin lesions. Also, skin biopsy is not needed, as microscopic examination is non-specific for this condition.

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 Cutis Marmorata Telangiectatica Congenita?

The complications of Cutis Marmorata Telangiectatica Congenita include:

• There are no major associated complications with CMTC skin lesions
• Ulceration of the overlying skin can occur
• However, associated abnormalities, such as congenital glaucoma, syndactyly, etc., may be severe in some individuals

How is Cutis Marmorata Telangiectatica Congenita Treated?

The treatment options for Cutis Marmorata Telangiectatica Congenita include:

• As the skin lesions of the CMTC disappear on its own within two years, no treatment is generally needed
• Appropriate counselling of parents is necessary to decrease the emotional distress due to the birthmark
• However, associated anomalies (such as glaucoma or limb asymmetry) may require treatment depending on the clinical situation

The healthcare provider will recommend the best treatment options based upon each individual’s specific circumstances.

How can Cutis Marmorata Telangiectatica Congenita be Prevented?

Currently, there are no known methods to prevent Cutis Marmorata Telangiectatica Congenita occurrence. However, CMTC is a very infrequent, benign skin condition.

What is the Prognosis of Cutis Marmorata Telangiectatica Congenita? (Outcomes/Resolutions)

• The prognosis of Cutis Marmorata Telangiectatica Congenita (CMTC) is good
• The skin lesions tend to improve as the child reaches 2-3 years of age
• The prognosis of associated abnormalities may vary depending on the severity of the condition

Additional and Relevant Useful Information for Cutis Marmorata Telangiectatica Congenita:

Some developmental syndromes, such as Sturge-Weber syndrome and Klippel- Trenauney syndrome, share some similarity with Cutis Marmorata Telangiectatica Congenita.