Cutis marmorata telangiectatica congenita (CMTC)

CMTC is a type of vascular “birthmark” notable for branching red-purple skin markings, most commonly on the leg. It is considered to be a vascular malformation, which develops as a result of abnormally shaped and enlarged vessels. CMTC is usually limited to the skin, but can be associated with other abnormalities, like differences in the width and/or length of the affected limb. Most cases of CMTC improve dramatically within the first two years of life. There are currently no effective treatments for CMTC.

Symptoms/History

CMTC is present at birth or a few days after birth. It is characterized by a branching or net-like pattern of red-purple skin markings that do not completely fade even when the affected area is warmed CMTC can be localized or generalized. Localized CMTC is most commonly found on the legs or arms, but can extend onto the trunk. Within the branching pattern, atrophy (or depressions) may be seen. Atrophy can be complicated by ulcerations and scarring, but this is not common.

CMTC may have associated abnormalities, like differences in the width or length of the affected limb. Less commonly, a second vascular “birthmark”, such as a capillary malformation, may be seen in association with CMTC. If CMTC affects large areas of the body, rarely, there can be associated skeletal, eye, or neurologic abnormalities. Fortunately, for most patients, this issue is limited to the skin.

The appearance of these skin markings typically improves with time, but may not completely resolve.

Pathogenesis

It is currently not understood why CMTC develops.

Diagnosis

The diagnosis of CMTC is made clinically.

Treatment

There are currently no effective treatments for CMTC. There are a few case reports of laser being used for treatment of CMTC, but results are not consistent so cannot be recommended at this time. Patients are offered supportive care including screening for possible complications, skin care, physical therapy, etc.