Lymphatic Malformation Responsive to Sirolimus in Keratinocytic Epidermal Nevus Syndrome with KRAS Mutation: A Case and Brief Literature Discussion

Case Rep Dermatol. 2021 Apr 1;13(1):195-201. doi: 10.1159/000515247. eCollection Jan-Apr 2021.


We present a rare case of KRAS keratinocytic epidermal nevus syndrome with lymphatic malformation, responsive to treatment with sirolimus, an mTOR inhibitor. A brief review of the current literature regarding sirolimus use in vascular malformations, lymphatic malformations, regional overgrowth syndromes, and RASopathies is discussed.

Keywords: Epidermal nevus syndrome; Genetic background; Lymphatic malformation; Sirolimus.

Publication types

  • Case Reports