先天性毛細血管擴張大理石狀皮膚是種罕見的先天性皮膚病兆。此皮膚病兆大多於出生時即可見,主要是為藍色到深紅色大理石樣的網狀斑紋,並常伴有皮膚潰爛或萎縮的現象。由於其中一半以上的病人可能會伴隨其他先天異常現象,所以對於此症病人需詳細地詢問病史,及作完整的理學檢查,確定病人是否有其他異常。本文所報告的病例乃是一位三十八天大的女嬰兒,出生時即有此皮膚病兆。追蹤至三個月大時,其下肢粗細不等;而至七個月大時神經學檢查皆正常。
Cutis marmorata telangiectatica con genita is an uncommon, congenital cutaneous lesion. It is usually present at birth, and is characterized by persistent fixed, flat, blue-violet cutaneous marmorata, telangiectasia, and phiebectasia. Frequently, there is associated skin atrophy and ulceration. There is an association with other abnormalities in at least 50% of the patients with cutis marmorata telangiectatica congenita. Thus, obtaining a thorough history and detailed physical examination are needed. We present a 38-day-old female infant with cutis marmorata telangiectatica congenita, with uneven growth of bilateral lower limbs, and review the literature on this rare lesion.