Cutis marmorata telangiectatica congenita

Cutis marmorata telangiectatica congenita (CMTC), also known as congenital generalized phlebectasia or Van Lohuizen syndrome, is a rare congenital vascular disorder characterized by a persistent, pronounced marbled (reticular) pattern of the skin caused by dilated surface blood vessels. Unlike the common and benign cutis marmorata (a temporary mottling of the skin seen in many newborns in response to cold), CMTC is present at birth and persists, often with a more striking, fixed, dark blue or purple reticular pattern. The condition primarily affects the skin but can involve multiple body systems. The hallmark feature is a localized or generalized reticulated (net-like) vascular pattern on the skin, which may be accompanied by skin atrophy, ulceration, and telangiectasias (small dilated blood vessels). The affected skin areas may appear thinner than normal. CMTC can be associated with asymmetry of the limbs (one limb being larger or smaller than the other), body asymmetry, and occasionally with other congenital anomalies including glaucoma, other eye abnormalities, syndactyly, and other vascular malformations. In some cases, it may overlap with or be part of broader vascular malformation syndromes such as macrocephaly-capillary malformation syndrome (M-CM syndrome). In many patients, the skin findings tend to improve gradually during the first few years of life, though they may not resolve completely. There is no specific cure for CMTC. Treatment is primarily supportive and symptomatic, focusing on monitoring and managing associated complications. Regular ophthalmologic examinations are recommended to screen for glaucoma, and orthopedic follow-up may be needed if limb asymmetry is present. Dermatologic monitoring is important for skin ulceration. Laser therapy has been used in some cases to address persistent telangiectasias. The overall prognosis is generally favorable, particularly in isolated cases without significant associated anomalies.

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