INTRODUCTION
Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular disorder characterized by violaceous, reticulated skin that may be complicated by painful ulcerations. Limited presentations often improve but rarely fully resolve with age, whereas generalized CMTC may persist into adulthood and is associated with limb asymmetry, glaucoma, and neurological deficits.1 Kienast and Hoeger proposed widely accepted major and minor diagnostic criteria, yet diagnosis remains challenging with untraditional presentations and when symptoms progress beyond childhood.2 Treatment is largely conservative, focused on avoiding cold exposure and trauma; therapies for extensive disease are limited to vasodilators, aspirin, and laser therapies. We present an unusual case of unilateral limb hypoplasia with vascular malformation, Raynaud syndrome, and livedo reticularis in an adult, ultimately diagnosed as CMTC and successfully treated with topical sirolimus.
A 50-year-old female with a history of congenital livedo reticularis and Raynaud syndrome presented with painful, violaceous, lacy patches on her left leg with associated limb hypoplasia present since birth. The erythema did not fade with warming, and she reported a 10-year history of spontaneous painful ulcerations of the affected leg that flared during cold weather. She denied a family history of similar presentations. She previously tried topical lidocaine for pain relief, but ultimately developed new erosions at application sites. Physical examination revealed a hypoplastic left leg from the upper thigh to the foot with lace-like violaceous patches and tender crusted erosions, without venectasia (Figure 1A-C). A skin biopsy was obtained from a crusted lesion on the thigh.
A 50-year-old female with a history of congenital livedo reticularis and Raynaud syndrome presented with painful, violaceous, lacy patches on her left leg with associated limb hypoplasia present since birth. The erythema did not fade with warming, and she reported a 10-year history of spontaneous painful ulcerations of the affected leg that flared during cold weather. She denied a family history of similar presentations. She previously tried topical lidocaine for pain relief, but ultimately developed new erosions at application sites. Physical examination revealed a hypoplastic left leg from the upper thigh to the foot with lace-like violaceous patches and tender crusted erosions, without venectasia (Figure 1A-C). A skin biopsy was obtained from a crusted lesion on the thigh.
