Symptoms of Cutis Marmorata Telangiectatica Congenita (CMTC)
CMTC, also known as Van Lohuizen syndrome, is a rare congenital vascular disorder that affects the skin. It is characterized by the presence of a distinctive pattern of marbled or mottled skin, caused by dilated blood vessels beneath the skin's surface. The condition is typically present at birth or appears shortly thereafter. While the exact cause of CMTC is unknown, it is believed to be a result of abnormal development of blood vessels during fetal development.
Physical Symptoms
The primary symptom of CMTC is the appearance of marbled or mottled skin, which is often more pronounced in cold temperatures. The skin may have a bluish or purplish discoloration, resembling a marble pattern. This discoloration is caused by the dilation of blood vessels and can be seen on various parts of the body, including the limbs, trunk, and face. The severity and extent of the skin involvement can vary widely among individuals.
In addition to the skin changes, individuals with CMTC may experience other physical symptoms, including:
- Atrophy: Some individuals may have areas of skin that appear thin, wrinkled, or have reduced subcutaneous fat.
- Hypoplasia: In some cases, there may be underdevelopment or reduced growth of certain body parts, such as limbs or fingers.
- Ulceration: Rarely, the affected skin may develop ulcers or sores, particularly in areas of increased pressure or trauma.
- Temperature sensitivity: The marbled skin may be more sensitive to temperature changes, with affected areas becoming more pronounced in cold conditions.
- Varicose veins: Some individuals with CMTC may develop varicose veins, which are enlarged and twisted veins that can be seen beneath the skin.
Associated Conditions
While CMTC primarily affects the skin, it can be associated with other medical conditions or abnormalities. These may include:
- Limb length discrepancy: Some individuals may have differences in the length of their limbs, with one limb being shorter than the other.
- Developmental delays: In rare cases, individuals with CMTC may experience delays in reaching developmental milestones, such as walking or talking.
- Eye abnormalities: Certain eye abnormalities, such as strabismus (crossed eyes) or ptosis (drooping eyelids), have been reported in association with CMTC.
- Cardiovascular abnormalities: There have been rare reports of individuals with CMTC having heart defects or abnormalities in the blood vessels of the heart.
- Other vascular anomalies: Some individuals may have additional vascular abnormalities, such as arteriovenous malformations or hemangiomas.
Diagnosis and Management
Diagnosing CMTC is primarily based on the physical examination and characteristic skin findings. In some cases, additional tests such as Doppler ultrasound or magnetic resonance imaging (MRI) may be performed to evaluate the extent of vascular involvement or to rule out associated abnormalities.
As CMTC is a rare condition, there is no specific cure or treatment. Management of CMTC focuses on addressing individual symptoms and providing supportive care. This may include:
- Regular monitoring: Individuals with CMTC may require regular follow-up visits with healthcare professionals to monitor their condition and address any concerns.
- Protective measures: It is important to protect the marbled skin from excessive cold or heat, as temperature extremes can worsen the discoloration or cause discomfort.
- Wound care: If ulcers or sores develop, appropriate wound care techniques should be employed to promote healing and prevent infection.
- Physical therapy: For individuals with limb length discrepancies or developmental delays, physical therapy may be recommended to improve mobility and strength.
- Psychosocial support: Living with a visible skin condition like CMTC can have psychological and social impacts. Supportive counseling or therapy may be beneficial for individuals and their families.
It is important for individuals with CMTC to have a comprehensive evaluation by a healthcare professional to assess for any associated conditions or complications. While CMTC itself is generally not life-threatening, the associated abnormalities may require additional medical management.