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A congenital cutaneous condition with persistent cutis marmorata, telangiectasia, and phlebectasia. It is often reported in association with a variety of other congenital anomalies.

Cutis marmorata telangiectatica congenita in a newborn.

Van Lohuizen Syndrome; Congenital (Generalized) Phlebectasia; Nevus Vascularis Reticularis; Livedo Telangiectatica; Congenital Livedo Reticularis.

First described by C.H.J. Van Lohuizen in 1922.

More than 100 cases have been published worldwide.

Unclear. Autosomal recessive and autosomal dominant trait with low penetrance have been discussed, although most cases seem to be sporadic.

The role of external factors, including viral infections, have been discussed, as several cases of cutis marmorata telangiectatica congenita (CMTC) occurred in the same geographic area. Histologic examination shows an increased number and size of capillaries and veins, perivascular lymphocytic infiltrates, occasional areas of microthrombosis and cutaneous atrophy or ulceration. An underlying connective tissue abnormality has been postulated.

Generally, the lesions are present at birth or shortly thereafter. They may be localized (most often on the legs) or generalized. A skin biopsy may confirm the diagnosis.

Consists of cutis marmorata, which is a marbled or mottled skin appearance caused by prominent capillaries and veins; vascular lesions present as telangiectasias that look like spider angiomas, venous dilatation or phlebectasias, and superficial ulceration. Major vessel stenosis resulting in claudication or gangrene have been described. There is a high incidence of abnormalities associated with CMTC, some studies estimated in up to almost 90% of patients. These other abnormalities may include mental retardation, macrocephaly, cerebrovascular malformations, glaucoma, micrognathia, cleft palate, dystrophic teeth, cardiac malformations (e.g., double aortic arch, patent ductus arteriosus), congenital hypothyroidism, multicystic kidney disease, hemihypertrophy, hemiatrophy, syndactyly, and nevi flammei. Some researchers suggested CMTC belongs to a group of vascular diseases (e.g., Sturge-Weber Syndrome, Klippel-Trénaunay Syndrome) associated with other mesodermal defects occurring during embryogenesis.

Perform a thorough search for other associated abnormalities in particular heart (clinical, echocardiography, electrocardiography) and kidneys (complete blood count, serum electrolytes, creatinine and blood urea nitrogen). Check thyroid function and correct hypothyroidism if necessary. Assess the airway with regard to difficult airway management.

Maintain spontaneous ventilation until the airway has been secured in patients with suspected or have difficult airway management. Watch out for dysotropic teeth. Venous access may be difficult because of numerous fragile branching veins. Areas of skin ulceration are a potential entry site for infections and should be kept clean and covered. Avoid sudden increases in blood pressure in patients with known cardiovascular malformations. Careful positioning and padding are necessary to prevent damage to the already delicate skin.

Avoid neuromuscular blocker until the airway has been secured. Avoid succinylcholine and atropine in the presence of glaucoma. Reduce the dose of anesthetic agents in the presence of uncorrected hypothyroidism.


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