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Management of a neonate with diffuse cutaneous mastocytosis: Case report and literature review
Author(s) -
Jenkinson Helena A.,
Lundgren Ashley D.,
Carter Melody C.,
Diaz Lucia Z.,
Levy Moise L.
Publication year - 2019
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.13801
Subject(s) - medicine , cutaneous mastocytosis , gene duplication , mutation , exon , dermatology , pathology , systemic mastocytosis , genetics , gene , biology , bone marrow
Mastocytosis is an accumulation of clonal mast cells within tissues, commonly caused by mutations in the KIT proto‐oncogene. This report describes the management of a neonate with diffuse cutaneous mastocytosis ( DCM ) caused by a rare activating KIT mutation, specifically internal tandem duplication of the Ala502Tyr503 pair on exon 9, and reviews current data regarding work‐up of DCM in pediatric patients.