Thursday, October 30, 2014

The diffuse, reticulated erythema disappeared with warming of this newborn.

Cutis marmorata telangiectatica congenita 

 a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. The condition was first recognised and described in 1922 by Cato van Lohuizen, a Dutch pediatrician whose name was later adopted in the other common name used to describe the condition - 

Cutis marmorata telangiectatica congenita is described to occur in association with other discrete syndromes such as Sturge-Weber syndrome and Klippel-Trenaunay syndrome. 

Some have suggestedthat Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and cutis marmorata telangiectatica congenita may be included in a group of vascular diseases that are associated with other developmental defects of the mesodermal system during embryonic life.

An otherwise healthy infant with extensive CMTC affecting the right arm, trunk and leg with sharp midline cutoff.



Pathophysiology

The pathogenesis of cutis marmorata telangiectatica congenita (CMTC) remains unclear. Its cause may be multifactorial. Most cases occur sporadically, although rare cases occur in families.

Cases of cutis marmorata telangiectatica congenita are reported in association with fetal ascites and an elevated maternal beta-human chorionic gonadotropin (beta-hCG) level, although a direct relationship has not been established.

Some authors suggest that the Happle lethal gene hypothesis (ie, the lethal dominant gene survives by means of mosaicism) best explains the patchy distribution of the lesions and sporadic occurrence of the disease. Other authors suggest that a possible teratogen is the cause, and yet others consider cutis marmorata telangiectatica congenita to be an autosomal dominant genetic disorder with incomplete penetrance.



Treatment and complications

In general, there is no treatment available for CMTC, although associated abnormalities can be treated. In the case of limb asymmetry, when no functional problems are noted, treatment is not warranted, except for an elevation device for the shorter leg.


Laser therapy has not been successful in the treatment of CMTC, possibly due to the presence of many large and deep capillaries and dilated veins. Pulsed-dye laser and long-pulsed-dye laser have not yet been evaluated in CMTC, but neither argon laser therapy nor YAG laser therapy has been helpful.

When ulcers develop secondary to the congenital disease, antibiotic treatment such as oxacillin and gentamicin administered for 10 days has been prescribed. In one study, the wound grew Escherichia coli while blood cultures were negative.

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