MACULOPAPULAR CUTANEOUS MASTOCYTOSIS HARBORING A <i>KIT</i> MUTATION (ASP419DEL): A CASE REPORT
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- Fukaura Akiko
- Department of Dermatology, Tokyo Medical University
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- Numata Takafumi
- Department of Dermatology, Tokyo Medical University
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- Chiyotanda Masako
- Department of Pediatrics and Adolescent Medicine, Tokyo Medical University
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- Maeda Tatsuo
- Department of Dermatology, Tokyo Medical University
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- Egusa Chizu
- Department of Dermatology, Tokyo Medical University
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- Ito Tomonobu
- Department of Dermatology, Tokyo Medical University
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- Harada Kazutoshi
- Department of Dermatology, Tokyo Medical University
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- Okubo Yukari
- Department of Dermatology, Tokyo Medical University
Bibliographic Information
- Other Title
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- <i>KIT</i>遺伝子変異(Asp419del)が検出された斑状丘疹状肥満細胞症の1例
- KIT遺伝子変異(Asp419del)が検出された斑状丘疹状肥満細胞症の1例
- KIT イデンシ ヘンイ(Asp419del)ガ ケンシュツ サレタ ハンジョウ キュウシンジョウ ヒマン サイボウショウ ノ 1レイ
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Description
<p>A 2-year-old, male patient presented with an 18-month history of scattered, brown macules and nodules up to 2 cm in size on his trunk and extremities. These macules were accompanied by pruritus and were positive for Darier's sign. A skin biopsy of a brown macule on the left thigh revealed a dense accumulation of CD117-positive, round or oval cells with amphophilic cytoplasm within the upper to middle dermis. The patient was otherwise healthy and had normal laboratory and imaging test results. Sequence analysis of genomic DNA from a skin biopsy demonstrated the presence of an Asp419del mutation in exon 8 of the KIT gene. Based on these findings, maculopapular cutaneous mastocytosis (MPCM) was diagnosed. The patient received H 1-antihistamine. Although the pruritus resolved, the brown macules remained for one year after the initial treatment. To the best of our knowledge, only three cases of cutaneous mastocytosis (CM) with an Asp419del mutation, including the present case, have been reported in the Japanese literature to date; moreover, while the previous two cases were of DCM, the present case was the first instance of MPCM. Normally, the symptoms of childhood-onset MPCM are dormant until puberty. However, a recent study reported that many MPCM patients may experience persistent or exacerbated symptoms. The present study therefore evaluated 53 Japanese cases of childhood onset MPCM with a KIT gene mutation and discussed the patients' clinical outcomes.</p>
Journal
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- Japanese Journal of Allergology
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Japanese Journal of Allergology 73 (2), 189-195, 2024
Japanese Society of Allergology
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Keywords
Details 詳細情報について
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- CRID
- 1390862500628456064
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- NII Book ID
- AN00012583
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- ISSN
- 13477935
- 00214884
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- NDL BIB ID
- 033382593
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- PubMed
- 38522933
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- Text Lang
- ja
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- Data Source
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- JaLC
- NDL
- PubMed
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- Abstract License Flag
- Disallowed