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Genotype and phenotype analysis of patients with pediatric cutaneous mastocytosis, especially wild‐type KIT patients
Author(s) -
Arase Noriko,
WatayaKaneda Mari,
Murota Hiroyuki,
Nakagawa Yukinobu,
Yamaoka Toshifumi,
ItoiOchi Saori,
Hirayasu Kouyuki,
Arase Hisashi,
Fujimoto Manabu,
Katayama Ichiro
Publication year - 2020
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.15266
Subject(s) - phenotype , genotype , mutation , medicine , cutaneous mastocytosis , proto oncogene proteins c kit , genotype phenotype distinction , biology , genetics , mast cell , systemic mastocytosis , immunology , gene , stem cell factor , haematopoiesis , stem cell
Pediatric cutaneous mastocytosis (CM) is mainly attributed to gain‐of‐function mutations in KIT in mast cells. On the other hand, growing evidence suggests that CM patients exist without KIT mutations. To date, the association between the KIT mutation status and clinical phenotype has not been elucidated in pediatric CM, especially in patients with wild‐type KIT . Nevertheless, genetic analysis has yet to be performed with whole KIT sequence of mast cells in Japanese patients with pediatric CM. In the present study, 11 Japanese patients with pediatric CM were analyzed to determine whether they had KIT mutations in their skin, and their clinical phenotypes were observed. The approximate frequency of patients with KIT mutation and that of wild‐type KIT was almost consistent with the European analysis. The distribution of overall macules was similar between the patients with and without KIT mutations.