Topical Sirolimus for Refractory Cutis Marmorata Telangiectatica Congenita in Adulthood: A Case Report.
Ram D Bhatt, Kateryna Karpoff, Nicholas Heitman et al.
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Case in brief
A 50-year-old woman with a history of congenital livedo reticularis and Raynaud syndrome presented with unilateral left lower-extremity hypoplasia and painful ulcerations due to cutis marmorata telangiectatica congenita (CMTC). Despite multiple therapies failing to alleviate her symptoms, treatment with once-daily topical sirolimus led to significant pain reduction and healing of ulcers within two months.
Diagnostic / clinical pearl
Clinicians should consider cutis marmorata telangiectatica congenita in adults presenting with atypical skin changes and painful ulcerations, especially when other treatments have failed.
Why it matters
This case highlights the potential of topical sirolimus as an effective off-label treatment for chronic ulcerative disease associated with adult CMTC.