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 net-like or reticulate blue to pale purple patches (livedo reticularis). Unlike physiological cutis marmorata, the marks do not fade with warming.
CMTC may appear indented due to dermal atrophy (loss of dermis). Atrophy of the epidermis and rarely ulceration may also occur. It is most commonly associated with ipsilateral limb hypotrophy (smaller, shorter limb).
Two congenital abnormalities are associated with cutis marmorata telangiectatica congenita: Adams–Oliver syndrome and phakomatosis pigmentovascularis.
The main features of Adams–Oliver syndrome are:
- Aplasia cutis congenita of the scalp
- Distal limb reduction anomalies
The main features of phakomatosis pigmentovascularis are:
- Vascular malformation
- Melanocytic naevi.
The condition previously known as macrocephaly–CMTC has been renamed macrocephaly–capillary malformation (MCM), since skin lesions in MCM represent reticulated port wine stains rather than cutis marmorata.
Extra-cutaneous findings of cutis marmorata telangiectatica congenita include:
- Limbs: 50% of patients will present with a limb length discrepancy and asymmetry
- Eyes: congenital retinal detachment, glaucoma, leukoconia
- CNS: developmental delay
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 the skin lesions of cutis marmorata telangiectatica congenita.
Affected children with limb length discrepancies should be monitored with standing leg-length radiographs at the age of 10 (girls) or 12 (boys), or if the limb length discrepancy is greater or equal to 2 cm. Orthopaedic referral is advised for limb length discrepancies over 2 cm for epiphysiodesis (fusion of bone growth plate) and surgical consideration.
What is the outcome for CMTC?
Cutis marmorata telangiectatica congenita slowly fades over the first years of life.