A case of cutis marmorata telangiectasia congenita

A full-term girl weighing 2830 g, with no significant antenatal history, was admitted to the neonatal intensive care unit with flat fixed bluish to purplish, asymmetrical, patches with marbled appearance over limbs and trunk at birth [Figure 1a-b] and corneal edema [Figure 2]. Systemic examination and preliminary blood investigations, including serum ammonia, were within normal limits. Urinary glycosaminoglycans were negative. Warming the limb did not fade away the lesions distinguishing it from cutis marmorata which can occur on exposure to cold in neonates. Based on characteristic dermatological manifestations, a diagnosis of Cutis Marmorata Telangiectasia Congenita (CMTC) was made. Other associated anomalies in this condition include neurological abnormalities (psychomotor retardation, seizures, and hypotonia) and ophthalmological conditions such as congenital glaucoma and posterior segment anomalies. A clinical diagnosis of CMTC can be made with the presence of characteristic skin lesions which include congenital reticulate (marmorated) erythema, absence of venectasia within the affected region at 1 year of age, and unresponsiveness to local warming. Differential diagnoses include Klippel-Trenaunay syndrome, Sturge-Weber syndrome, and port-wine stain capillary malformations. Although there is no specific treatment for CMTC, the prognosis is usually good, and parents can be reassured that lesions will fade in early life.^[1-3]

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Figure 1:

(a) Asymmetrical and fixed bluish patches with marbled appearance over limbs and trunk at birth, (b) Flat and purple patches over right lower limb.

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Figure 2:

Corneal edema.

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