What is the definition of Cutis Marmorata Telangiectatica Congenita?
Cutis marmorata telangiectatica congenita (CMTC) is a birth defect involving the skin and blood vessels. It is characterized by patches of marbled-looking skin (cutis marmarota), small widened blood vessels under the skin (telangiectasia) and varicose veins (phlebectasia). The skin findings most often occur on the legs, but may also occur on the arms and trunk. The face is only rarely involved. CMTC usually only affects a specific area of the skin, although there have been a few cases of CMTC over the whole body. It may occasionally occur along with open sores (skin ulceration) or skin atrophy. The skin symptoms associated with CMTC generally improve with age.
CMTC can occur alone or along with a variety of other birth defects, particularly those involving undergrowth or overgrowth of the same arm or leg. Most cases are thought to be sporadic (non-inherited), although rare cases have been observed in families.
What are the alternative names for Cutis Marmorata Telangiectatica Congenita?
- Hereditary cutis marmorata telangiectatica congenita
- Van Lohuizen syndrome
What are the causes for Cutis Marmorata Telangiectatica Congenita?
The exact cause of cutis marmorata telangiectatica congenita (CMTC) is not known. It is thought that a combination of factors may contribute to the development of this condition. These factors may include diet, viral infections, and genetic factors. In a few rare cases, CMTC may occasionally run in families.[
What are the symptoms for Cutis Marmorata Telangiectatica Congenita?
The symptoms of cutis marmorata telangiectatica congenita (CMTC) may be different from infant to infant. Some may be more severely affected than others. Not everyone with CMTC will have the same symptoms.
CMTC is generally present at birth (congenital). Infants may be born with:
• Red or purple marbled looking patches of skin that don’t respond to warmth (cutis marmorata)
• Clusters of blood vessels visible under the skin (telangiectasia)
• Skin ulcers (open sores)
• Limb size discrepancy
The skin findings are usually seen in on part of the skin on the lower limbs, but can be on upper limbs or trunk, and less often, on the face. CMTC is usually confined to one part of the skin, on one limb, or on one side of the body. In rare cases, CMTC covers the whole body. The skin symptoms of CMTC typically get better over time and there are no known long-term complications of this condition.
CMTC can also be found associated with other birth defects or as part of other syndromes as well.
What are the current treatments for Cutis Marmorata Telangiectatica Congenita?
There is no specific treatment for isolated cutis marmorata telangiectatica congenita (CMTC). The skin symptoms typically fade and become less noticeable by 2 years of age, and often completely disappear by adolescence. If treatment is necessary, it is symptom specific and supportive.
What is the outlook (prognosis) for Cutis Marmorata Telangiectatica Congenita?
The skin findings associated with cutis marmorata telangiectatica congenita (CMTC) typically disappear over time and most people born with this condition have a good long-term outlook. Sometime CMTC occurs along with other birth defects or as part of another condition, and in those cases, the long-term outlook depends on the additional underlying symptoms.
How is Cutis Marmorata Telangiectatica Congenita diagnosed?
Cutis marmorata telangiectatica congenita (CMTC) is diagnosed based on a clinical examination of the signs and symptoms. Additional studies may be done to look for signs of other syndromes that include CMTC.
Is Cutis Marmorata Telangiectatica Congenita an inherited disorder?
Cutis marmorata telangiectatica congenita (CMTC) is not thought to be inherited in families. There are a few rare families that have more than one member with CMTC.