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一名8个月大男婴的巨大离心性深部粟丘疹肉芽肿变异型：扩展心面皮肤综合征的皮肤病学表型

Granulomatous Variant of Giant Centrifugal Miliaria Profunda in an 8-Month-Old Boy: Expanding the Dermatologic Phenotype of Cardiofaciocutaneous Syndrome.

作者信息

Tolson Hannah C, Alzahrani Fatmah, Singh Raj, Lorsbach Robert, Grebe Theresa A, Prakash Supraja, Picarsic Jennifer, Dupuy Elizabeth, Price Harper

机构信息

Department of Child Health, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.

Division of Dermatology, Phoenix Children's, Phoenix, Arizona, USA.

出版信息

Pediatr Dermatol. 2025 May-Jun;42(3):599-602. doi: 10.1111/pde.15827. Epub 2025 Jan 22.

DOI:10.1111/pde.15827
PMID:39842811
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12118522/
Abstract

Miliarias are a group of eccrine disorders characterized by sweat retention due to the occlusion of eccrine ducts. Miliaria profunda is the rarest form of miliaria and occurs when eccrine ducts are obstructed at the dermal-epidermal junction. A granulomatous variant of centrifugal miliaria profunda classic findings of granulomatous infiltrate on histology and centrifugal expansion of deep nodules or plaques. We report a rare case of the granulomatous variant of centrifugal miliaria in an 8-month-old boy, with associated cardiofaciocutaneous syndrome (CFCS) due to a pathogenic MAP2K1 germline variant.

摘要

粟丘疹是一组以小汗腺导管阻塞导致汗液潴留为特征的小汗腺疾病。深部粟丘疹是粟丘疹最罕见的形式，发生于小汗腺导管在真皮-表皮交界处受阻时。深部离心性粟丘疹的肉芽肿性变体在组织学上有肉芽肿浸润以及深部结节或斑块离心性扩展的典型表现。我们报告了一例8个月大男婴罕见的深部离心性粟丘疹肉芽肿性变体病例，该病例因致病性MAP2K1种系变体而伴有心脏颜面皮肤综合征（CFCS）。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/462c/12118522/40ebe8923766/PDE-42-599-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/462c/12118522/54a16546f6b8/PDE-42-599-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/462c/12118522/34351c495811/PDE-42-599-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/462c/12118522/40ebe8923766/PDE-42-599-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/462c/12118522/54a16546f6b8/PDE-42-599-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/462c/12118522/34351c495811/PDE-42-599-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/462c/12118522/40ebe8923766/PDE-42-599-g001.jpg

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Granulomatous Variant of Giant Centrifugal Miliaria Profunda in an 8-Month-Old Boy: Expanding the Dermatologic Phenotype of Cardiofaciocutaneous Syndrome.一名8个月大男婴的巨大离心性深部粟丘疹肉芽肿变异型：扩展心面皮肤综合征的皮肤病学表型
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本文引用的文献

1
Granulomatous Variant of Giant Centrifugal Miliaria Profunda in a Hypothyroid Infant: A Case Report.一名甲状腺功能减退婴儿的深部离心性粟粒疹肉芽肿变体：病例报告
Indian Dermatol Online J. 2019 Aug 28;10(5):564-566. doi: 10.4103/idoj.IDOJ_422_18. eCollection 2019 Sep-Oct.
2
Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.通过靶向新一代测序进行RAS病检测的患者的表型预测指标和最终诊断结果
Genet Med. 2017 Jun;19(6):715-718. doi: 10.1038/gim.2016.169. Epub 2016 Oct 20.
3
Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review.
科斯特洛综合征和心脏颜面皮肤综合征的皮肤表现：18例报告及文献综述
Pediatr Dermatol. 2013 Nov-Dec;30(6):665-73. doi: 10.1111/pde.12171.
4
Granulomatous variant of giant centrifugal miliaria profunda.深部巨离心性粟丘疹的肉芽肿变体
Pediatr Dermatol. 2013 Jul-Aug;30(4):e48-51. doi: 10.1111/j.1525-1470.2011.01666.x. Epub 2012 Jan 26.
5
Eccrine squamous metaplasia and periadnexal granulomas: new cutaneous histopathologic findings in cardiofaciocutaneous syndrome.小汗腺鳞状化生和附件周围肉芽肿：心面皮肤综合征新的皮肤组织病理学表现
Pediatr Dermatol. 2010 May-Jun;27(3):274-8. doi: 10.1111/j.1525-1470.2009.00982.x. Epub 2009 Oct 4.
6
Miliaria profunda.深部粟丘疹
J Am Acad Dermatol. 1996 Nov;35(5 Pt 2):854-6. doi: 10.1016/s0190-9622(96)90103-6.
7
Giant centrifugal miliaria profunda.巨大离心性深部粟丘疹
Pediatr Dermatol. 1990 Jun;7(2):140-6. doi: 10.1111/j.1525-1470.1990.tb00671.x.