What is Cutis Marmorata Telangiectatica Congenita?
Cutis marmorata telangiectatica congenita (CMTC) is an uncommon skin disorder that usually appears at birth and its cause is unknown. The main characteristics of CMTC are a persistent skin pattern that looks like a marble surface, along with broken blood vessels and sometimes, ulcers. Luckily, the marble-like skin often shows signs of improvement during the first year of life and continues to get better as time goes on. There have been some cases where infants with CMTC also had issues with their muscles, blood vessels, heart, nervous system, and eyes.
What Causes Cutis Marmorata Telangiectatica Congenita?
The exact cause of Cutis marmorata telangiectatica congenita, a skin condition, isn’t known. However, multiple studies suggest it’s likely due to a combination of several factors.
Risk Factors and Frequency for Cutis Marmorata Telangiectatica Congenita
CMTC, a particular condition, can be present from birth but in some cases, it is noticed later on, as late as 3 months to 2 years later. The total number of people affected by CMTC is uncertain, with around 300 cases reported till now. CMTC can affect both males and females, and while some studies indicate that it’s more common in females, the difference is not significant enough to be conclusive.
Signs and Symptoms of Cutis Marmorata Telangiectatica Congenita
CMTC, also known as Cutis Marmorata Telangiectatica Congenita, is a rare skin condition usually noticeable from birth. The affected skin has a web of dark red to purplish marks mixed with tiny visible blood vessels (telangiectasias), and sometimes bulging veins are noticeable. This can appear over any part of the body and might be found in small patches or large areas. Here’s what you should know about CMTC:
- CMTC often presents as localized (around 60% of cases) or generalized (around 40% of cases) patches of affected skin.
- When localized, it’s mainly found on one side of the body with a clear boundary and generally doesn’t cross the middle of the body. It usually affects the lower limbs first, then sometimes the trunk and face.
- On the other hand, when generalized, the condition usually affects the trunk, limbs, face, and scalp but typically spares the palms of the hands, soles of the feet, and the moist linings of certain body parts (mucous membranes).
- The surrounding skin may look normal, reddish (erythematous), scrawny (atrophic), or even have open sores (ulcerated).
- In cold conditions, the purplish splotches might become more distinct. However, if they’re still noticeable once the skin has warmed up, it often confirms the diagnosis as CMTC.
- Some affected areas may become paler when lightly pressed, while others might only partly fade even when firmly pressed.
- Growth irregularities of the affected limbs, with either undergrowth (hypotrophy) or overgrowth (hypertrophy) being common.
On top of these skin symptoms, people with CMTC can also experience additional health issues. These might include:
- Skeletal anomalies like syndactyly (fused fingers or toes), inflammation of the tendons, or a cleft palate.
- Glaucoma, a type of eye condition.
- Other vascular anomalies – abnormal conditions affecting the blood vessels – such as port-wine stains, enlarged blood vessels (angiokeratomas), and blood vessel growths (hemangiomas).
- Neurological anomalies such as overly large head size (macrocephaly) seen in a syndrome called Macrocephaly-cutis marmorata telangiectatica congenita. This condition is also associated with neonatal low muscle tone (hypotonia), development delays, overgrowth, and problems with the connective tissues.
Testing for Cutis Marmorata Telangiectatica Congenita
Diagnosing CMTC, a skin condition, is mainly based on observing certain signs in the patient. Medical professionals Kienast and Hoeger have suggested some criteria that can guide this diagnosis. The major ones include: the presence of a red, net-like rash present from birth, the absence of enlarged or twisted veins, and the lack of response to local warming. In addition, at least two of the following minor signs should be present: the red rash fading within two years, tiny, widened blood vessels in the affected area, a type of birthmark known as a port-wine stain, skin ulcers (breakdown of the skin) within the affected area, and skin atrophy (thinning or loss of skin) within the affected area. However, these criteria have not yet been officially confirmed as reliable.
If the doctor suspects that there may be associated birth defects, they will recommend imaging tests. Depending on what other abnormalities are present, it may be necessary to consult with an eye specialist, orthopedic surgeon, neurosurgeon, and/or vascular cosmetic surgeon. The size and length of the affected limb should be measured and monitored over time. Patients should also be routinely checked for related anomalies for at least three years.
Treatment Options for Cutis Marmorata Telangiectatica Congenita
In general, CMTC, a skin condition, does not require treatment for skin lesions. Over the first two years of life, the redness and patterned discoloration on the skin can potentially fade due to the natural thickening and maturation of the skin. However, these changes do not usually disappear entirely.
There are several treatments that have been reported to yield different results. These include avoiding cold, the use of blood vessel wideners, aspirin, pentoxifylline, and PUVA therapy. Studies indicate that CMTC doesn’t often respond well to laser therapy. If the skin has areas of ulceration, it’s recommended to treat these infected areas and use bandages that completely cover the affected area if necessary.
What else can Cutis Marmorata Telangiectatica Congenita be?
When diagnosing CMTC, a rare skin condition, doctors need to consider other conditions that might cause similar skin changes. These could include:
- Normal cutis marmorata: This causes a pattern on the skin much like CMTC, but unlike CMTC, the pattern goes away when the skin is warmed up.
- Klippel-Trenaunay syndrome: This condition can result in reddish-purple birthmarks, enlarged veins, and excessive growth of soft tissues and bones.
- Sturge-Weber syndrome: This involves a birthmark on the face; seizures; mental development issues; eye problems and brain abnormalities.
- Adams-Oliver syndrome: This is recognized by a similar skin pattern to CMTC, along with heart abnormalities, limb defects, and missing skin.
- Bockenheimer disease: This causes large, painful vein enlargements, usually affects one limb, and shows gradual progression from childhood.
- Reticular hemangioma syndrome: This is characterized by abnormal blood vessels and may also involve genital, urinary, and sacral anomalies with non-healing sores, and possibly heart failure.
Other conditions also associated with a similar skin pattern to CMTC include Divry Van Boageart syndrome, homocystinuria, Down syndrome, Cornelia de Lange syndrome, and neonatal lupus erythematosus. All of these conditions should be taken into consideration for a proper diagnosis.
What to expect with Cutis Marmorata Telangiectatica Congenita
The outlook is generally positive, with more than half of patients seeing an improvement in their skin lesions.
Possible Complications When Diagnosed with Cutis Marmorata Telangiectatica Congenita
Even though skin marks lessen as time goes by, the unequal size of limbs still continues. Other complications are connected to the treatment. There’s a specific risk of scar development from laser therapy in patients with ongoing CMTC.
