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

Emily Sideris; Er Tsing Vivian Tng; Paul Chee

doi:10.1159/000515247

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 2021 Jan-Apr.

Authors

Emily Sideris¹, Er Tsing Vivian Tng^{1

2}, Paul Chee^{2

3}

Affiliations

¹ Royal Australian College of General Practitioners, Newcastle, New South Wales, Australia.
² Australasian College of Dermatologists, Rhodes, New South Wales, Australia.
³ Department of Dermatology, John Hunter Hospital, New Lambton Heights, New South Wales, Australia.

Abstract

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