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

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

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 syndr...

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Veröffentlicht in:Case Reports in Dermatology 2021-01, Vol.13 (1), p.195-201
Hauptverfasser: Sideris, Emily, Tng, Er Tsing Vivian, Chee, Paul
Format: Artikel
Sprache:eng
Schlagworte:
Abdomen
Abnormalities
Angiogenesis
Blood transfusions
Case and Review
Case reports
Case studies
Congenital diseases
Drug therapy
Embolization
epidermal nevus syndrome
Gene mutations
Genes
genetic background
Genetic research
Lymphatic diseases
lymphatic malformation
Mole (Dermatology)
Mutation
Pain
Rapamycin
sirolimus
Skin
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Zusammenfassung: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.
ISSN:1662-6567
1662-6567
DOI:10.1159/000515247