Is the lesion shown here related to the limb hypoplasia in this infant?

Dermclinic
A Photo Quiz to Hone Dermatologic Skills  

Case: This 13-week-old boy is brought for evaluation of a “birthmark” on his right buttock. The mother describes the lesion as a bluish mottling of the skin that worsens with crying. She is also concerned that the baby’s right leg looks smaller than his left.

Is the lesion shown here related to the limb hypoplasia in this infant?

(Answer on next page.)





Dermclinic—Answer

Yes, hypoplasia of an affected limb is a common feature of cutis marmorata telangiectatica congenita

Cutis marmorata telangiectatica congenita (CMTC) is a rare cutaneous vascular anomaly of unknown cause that is present at birth. The lesion may be associated with other abnormalities depending on its location. There appears to be no familial pattern of inheritance or sexual predilection. CMTC is generally categorized as localized or diffuse; when localized, it is often segmental and limited to a single limb.

CMTC presents as a bluish-purple mottling of the skin in a reticulated pattern, commonly referred to as livedoid. Initially, it is difficult to differentiate the vascular lesion from cutis marmorata—the normal, common physiologic vascular response to cold in the newborn. However, CMTC does not resolve with warming of the skin as the physiologic changes do. Although part of the condition’s name, telangiectasia is not common, and its presence is not required for diagnosis.

This infant’s right thigh is 2 cm less in diameter than his left, and the calves and ankles also appear smaller. He has no apparent leg length discrepancy. Hypoplasia of an affected limb is a common feature of CMTC. CMTC that involves the face has been associated with macrocephaly and glaucoma.

Kienast and Hoeger¹ provide a classification of CMTC that is useful for evaluating infants at birth and for advising parents on the nature of this cutaneous change and its prognosis. According to their study, major criteria for CMTC include congenital reticulate (marmorated) erythema, absence of venectasia, and unresponsiveness to local warming; these criteria were present in ALL patients studied. Minor criteria include fading of erythema within 2 years, which occurred in about two-thirds of patients, and telangiectasia, which was present in less than a quarter of patients. Other less common minor criteria are port-wine stain outside the area affected by CMTC and ulceration and atrophy within the affected area.¹

Although the vascular changes generally fade over time, the associated anomalies typically require intervention. The parents of this boy were advised accordingly and provided referral to an orthopedist for assessment and ongoing support, which the infant may require when he becomes more active. ■ 

Reference
1. 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;34:319-323.