Cutis marmorata telangiectatica congenita
What is cutis marmorata telangiectatica congenita?
Cutis marmorata telangiectatica congenita (CMTC) is an uncommon congenital capillary vascular malformation. It should not be confused with cutis marmorata, a normal physiologic skin mottling in cool environments.
What are the clinical features of CMTC?
Cutis marmorata telangiectatica congenita is present at birth. It is characterised by fixed patches of mottled skin with a marbled or reticulate blue to pale purple patches. Unlike cutis marmorata, the marks do not disappear in a warm environment.
CMTC may appear indented due to dermal atrophy (loss of dermis). Atrophy of the epidermis and rarely ulceration may also occur.
Who gets CMTC?
Cutis marmorata telangiectatica congenita is rare. It is usually sporadic, and family members are unaffected. However, rarely, several members of a family have had CMTC.
Some patients with CMTC may also have associated congenital abnormalities such as:
- limb length discrepancy
- developmental delay
- neurologic abnormalities
What causes CMTC?
The cause of cutis marmorata telangiectatica congenita is unknown, but is likely to be a genetic mutation.
How is the diagnosis of CMTC made?
Diagnosis of cutis marmorata telangiectatica congenita is usually based on identification of the specific skin appearances by an experienced dermatologist.
Management of CMTC
There is no specific treatment for cutis marmorata telangiectatica congenita. It may show gradual spontaneous improvement as the child grows. Affected children may be monitored for development of associated abnormalities although most remain well and no treatment is needed.