MacGibeny Margaret A, John Ann M, Milgraum David M, Wassef Cindy, Milgraum Sandy S
Rutgers Robert Wood Johnson Medical School, Piscataway, NJ, USA.
Department of Dermatology, Rutgers Robert Wood Johnson Medical School, Somerset, NJ, USA.
Pediatr Dermatol. 2020 Sep;37(5):979-980. doi: 10.1111/pde.14293. Epub 2020 Aug 4.
Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital cutaneous vascular anomaly with a reticular marbled erythematous pattern, which can result in isolated benign skin lesions or less commonly be associated with systemic anomalies. Occasionally, the characteristic pattern of CMTC lesions is masked on initial presentation, creating a diagnostic conundrum that can result in unnecessary workups to rule out vasculopathy. We present the case of a female newborn with a red-blue ulcerated skin lesion on the right leg and foot, which initially appeared as retiform purpura but evolved to exhibit the mottled pattern of CMTC by 5 days of age. Clinicians must be made aware of this potential diagnostic trap in early CMTC to avoid invasive skin biopsies and unnecessary laboratory testing in neonates.
先天性大理石样皮肤毛细血管扩张症（CMTC）是一种罕见的先天性皮肤血管异常，具有网状大理石样红斑模式，可导致孤立的良性皮肤病变，较少情况下与全身异常有关。偶尔，CMTC病变的特征性模式在初次表现时会被掩盖，造成诊断难题，可能导致为排除血管病而进行不必要的检查。我们报告一例女性新生儿病例，其右腿和足部有红蓝相间的溃疡皮肤病变，最初表现为网状紫癜，但在5日龄时演变为呈现CMTC的斑驳模式。必须让临床医生了解早期CMTC中这种潜在的诊断陷阱，以避免对新生儿进行侵入性皮肤活检和不必要的实验室检查。
