What Is the Cause of This Infant's Mottled Appearance?

This infant has cutis marmorata telangiectatica congenita (CMTC). This rare congenital condition, known also as Van Lohuizen syndrome, is caused by vascular malformation of capillaries and venous vessels, although the exact pathogenesis is unknown.¹ CMTC is characterized by cutis marmorata (the marbled, lacy appearance of an infant’s skin when it is exposed to cold environmental temperatures), telangiectasias, and varicosity.

While CMTC is similar in appearance to physiologic cutis marmorata, the reticulated pattern persists independent of environmental temperature.² CMTC typically is localized and affects a single extremity, as with the infant in our case. The appearance of CMTC usually is sporadic, although there have been reports of familial inheritance.¹

The condition requires no treatment and improves with time. Nevertheless, the presence of other anomalies associated with CMTC have been reported in infants, with estimates ranging from 20% of cases¹ to as many as 80% of cases.³ These concomitant findings can include other vascular anomalies such as nevi and hemangiomas²; ocular anomalies such as glaucoma¹; neurologic anomalies; musculoskeletal defects such as soft-tissue hypoplasia, limb atrophy and, most commonly, limb asymmetry; and other cutaneous findings such as ulceration and hyperkeratosis. Adams-Oliver syndrome, Klippel-Trénaunay syndrome, and macrocephaly-capillary malformation syndrome also have been reported in association with CMTC.¹

It is generally recommended that infants who present with CMTC and associated abnormalities be referred to a specialist for further evaluation.

Our patient recovered from her respiratory illness and was discharged with instructions for her parents to follow-up with the girl’s pediatrician 2 days later.

REFERENCES:

1. Garzon MC, Schweiger E. Cutis marmorata telangiectatica congenita. Semin Cutan Med Surg. 2004:23(2):99-106.

2. Levy R, Lam JM. Cutis marmorata telangiectatica congenita: a mimicker of a common disorder. CMAJ. 2011:183(4):E249-E251.

3. Kienast AK, Hoeger PH. Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria. Clin Exp Dermatol. 2009;34(3):319-323.