Cutis Marmorata Telangiectasia Congenita

Cutis Marmorata Telangiectasia Congenita

 

Key Points
Rare congenital vascular disorder
Affects the blood vessels of the skin
Usually observed at birth or shortly thereafter
Marbled bluish to deep-purple appearance

Cutis Marmorata (CMTC) is a very rare vascular disorder; there are only 200 reported cases, although milder forms of it may be more common and undocumented. It’s referred to as mottled skin , which typically happens in newborns or in the first few months of a child’s life. It’s cause by an instability or immaturity of the nerve supply to the superficial capillary blood vessels in the skin, which causes the blood vessels to dilate, producing a red color of skin, or “marbled skin.” CMTC is most pronounced when the skin is cooled.  However, it doesn’t resolve with rewarming.  This helps differentiate CMTC from typical cutis marmorata (a common physiologic reactivity of blood vessels in babies).   It’s more common in babies with Down’s Syndrome.

Differential Diagnosis (Other conditions with similar appearance)

Cutis Marmorata
Capillary Malformation
Klippel-Trenaunay-Weber Syndrome
Neonatal Lupus erythematosus
Nevus anemicus

Diagnosis
Key Points
Physical examination
Imaging studies

A physical examination helps to diagnose CMTC. Imaging studies may also be indicated. Although the disorder is rare, it is often associated with other skin disorders such as hemangiomas, capillary vascular malformations, glaucoma, skin atrophy and ulceration.

Treatment
* No treatment available

Although there is no cure or treatment for CMTC, the associated abnormalities can be treated. Ulcers, for instance, can be treated with Antibiotics. The condition is benign, however, and improves with age. Skin lesions generally clear up within the first two years of age. Most of the affects of CMTC are psychological in nature; children with CMTC, for instance, may experience low self esteem.