Topical Sirolimus for Refractory Cutis Marmorata Telangiectatica Congenita in Adulthood: A Case Report

Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular disorder characterized by persistent, violaceous, reticulated skin changes that may be complicated by painful ulcerations. Although localized disease often improves with age, generalized CMTC can persist into adulthood and may be associated with limb asymmetry, ocular abnormalities, and neurologic sequelae. Diagnosis can be challenging in atypical adult presentations despite established major and minor criteria. We report a case of a 50-year-old woman with congenital livedo reticularis and Raynaud syndrome who presented with lifelong unilateral left lower-extremity hypoplasia and fixed lacy violaceous patches. Over the preceding decade, she developed recurrent, spontaneous, painful ulcerations exacerbated by cold exposure. Examination revealed a hypoplastic left leg with reticulated violaceous patches and tender, crusted erosions without venectasia; biopsy findings ruled out vasculitis, and the overall clinicopathologic picture met all three major and multiple minor Kienast-Hoeger criteria for CMTC. Multiple therapies targeting vasospasm and microvascular flow (including sildenafil, pentoxifylline, diosmiplex, nifedipine, and aspirin) failed to improve symptoms. Initiation of once-daily topical sirolimus (1 mg/mL) resulted in marked pain reduction within four weeks and cessation of new ulcerations, with visible improvement and healed erosions by two months. This case supports topical sirolimus as a promising off-label option for adult CMTC with chronic ulcerative disease.