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At a glance

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

Synonyms

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

History

First described in 1922 by the Dutch pediatrician Cato H.J. van Lohuizen (1893-1937). She was the first female pediatrician in the Netherlands and died of scarlet fever at the age of 44 years.

Incidence

Unknown. Approximately 300 cases have been published worldwide.

Genetic inheritance

Autosomal recessive and autosomal dominant transmission with low penetrance have been described, but most cases seem to be sporadic. Some reports indicate that females are more often and more extensively affected than males, but other studies reported no sexual difference with regards to severity and frequency of the disease.

Pathophysiology

The role of external factors, including viral infections and teratogens, has been discussed, as several cases of cutis marmorata telangiectatica congenita (CMTC) occurred in the same geographic area, however, this could not been proven. Histologic examination shows an increased number of dilated capillaries and veins (venous lakes) in the deeper dermis with hyperplasia and swelling of endothelial cells, perivascular lymphocytic infiltrates, occasional areas of microthrombosis, and cutaneous atrophy and/or ulcerations. Some experts have postulated an underlying connective tissue abnormality.

Diagnosis

Based on the clinical findings. Biopsies are rarely indicated as the histological findings are usually unspecific.

Clinical aspects

The defect consists of persistent cutis marmorata (marbled or mottled skin appearance caused by low-flow, prominent, coarsely reticulated, violaceous capillary malformations), telangiectases, and venous dilatations or phlebectasias. Occasionally superficial ulcerations and atrophy of the involved skin may occur. Crying or cold exposure can make the lesions more obvious, while warming of the skin will not make them vanish, which is an important criterion, since physiologic cutis marmorata (occurring in neonates upon cold exposure) is reversible by skin warming. In about half to two-thirds of patients, CMTC appears as a localized lesion, most commonly affecting the legs, followed by trunk and face. Asymmetry of the body is common (in 33-69% of patients), particularly when CMTC involves the limbs, but can also occur in the face, and the affected body region can either be atrophic (up to three times more common) or hypertrophied. There appears to be a high incidence of additional anomalies associated with CMTC; however, estimates vary widely from 18 to 89% of patients and their significance in the majority of cases is considered minor. However, serious abnormalities have been reported and may include mental retardation, seizures, macrocephaly, cerebrovascular malformations (eg, hydrocephalus, ventriculomegaly, cerebral atrophy, agenesis of the corpus callosum, porencephaly), glaucoma (most often unilateral), retinal detachment, micrognathia, cleft ...

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