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.
Who gets CMTC?
Cutis marmorata telangiectatica congenita is rare. It is usually sporadic, and family members are unaffected. However, several members of a family may occasionally have CMTC.
What causes CMTC?
The cause of cutis marmorata telangiectatica congenita is unknown, but is likely to be a genetic mutation. A possible variation in the ARL6IP6 gene has been suggested.
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 (livedo reticularis). 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.
There are a several congenital abnormalities associated with cutis marmorata telangiectatica congenita.
- Cleft palate
- Micrognathia (small jaw)
- Dystrophic teeth (abnormal teeth)
- Macrocephaly (large head)
- Hyperplastic (thickened) or aplastic (thin/absent) skin
- Optic nerve atrophy (damage) and congenital glaucoma
- Cornelia de Lange syndrome
- Mental retardation
- Delayed motor development
- Hypotonia (low muscle tone)
- Patent ductus arteriosus and atrial septal defects
- Haemangiomatous malformations (abnormal blood vessel structures)
- Cerebrovascular malformations (abnormal blood vessels in the brain)
- Sturge-Weber syndrome
- Syndactyly (webbed/joined fingers or toes)
- Hypertrophy (enlargement/swelling) of affected limb resulting in limb length discrepancy
- Several other features have been described in affected children
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 or paediatrician.
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.