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Long‐term sirolimus treatment in blue rubber bleb nevus syndrome: Case report and review of the literature
Author(s) -
Weiss Doris,
Teichler Anne,
Hoeger Peter H.
Publication year - 2020
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14506
Subject(s) - medicine , sirolimus , dermatology , bleb (medicine) , nevus , blue nevus , disseminated intravascular coagulation , surgery , cancer research , trabeculectomy , intraocular pressure , melanoma
Blue rubber bleb nevus syndrome is a rare vascular syndrome characterized by continuous eruption of vascular nodules in the skin, mucous membranes, and solid organs due to somatic activating mutations of the angiopoietin receptor TEK gene. It may be complicated by acute life‐threatening hemorrhage and localized intravascular coagulation. We report an 11‐year‐old girl with complicated blue rubber bleb nevus syndrome treated with sirolimus since the age of 2. We review the literature on sirolimus therapy for children with blue rubber bleb nevus syndrome.