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成年期诊断的重度非典型青少年毛发红糠疹，使用乌司奴单抗后显著改善。

Severe atypical juvenile pityriasis rubra pilaris diagnosed in adulthood with a dramatic improvement with ustekinumab.

作者信息

McCarthy Rebecca L, Oldham Jaimie, Barbosa Elsa, Sinclair Catriona, Cunningham Malvina, O'Toole Edel A

机构信息

Faculty of Medicine and Dentistry Centre for Cell Biology and Cutaneous Research Blizard Institute Queen Mary University of London London UK.

Department of Dermatology Royal London Hospital Barts Health NHS Trust London UK.

出版信息

Skin Health Dis. 2024 Apr 11;4(4):e389. doi: 10.1002/ski2.389. eCollection 2024 Aug.

DOI:10.1002/ski2.389
PMID:39104646
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11297448/
Abstract

Pityriasis rubra pilaris (PRP) is a rare skin disease which manifests as a psoriasiform dermatosis and palmoplantar keratoderma and has significant clinical-histopathological overlap with psoriasis. Recently, several case reports have demonstrated successful treatment of PRP with anti-IL7A and anti-IL12/anti-IL23 monoclonal antibodies. We report a case of atypical juvenile PRP definitively diagnosed during adulthood with presence of CARD14 mutation. This case demonstrates a dramatic improvement with ustekinumab and highlights the role of genetic testing in chronic disease of diagnostic uncertainty.

摘要

红皮病型毛发红糠疹（PRP）是一种罕见的皮肤病，表现为银屑病样皮疹和掌跖角化病，在临床组织病理学上与银屑病有显著重叠。最近，几例病例报告显示，抗IL7A和抗IL12/抗IL23单克隆抗体成功治疗了PRP。我们报告一例成年期确诊的非典型青少年PRP病例，该病例存在CARD14突变。该病例显示乌司奴单抗治疗效果显著，并突出了基因检测在诊断不明确的慢性病中的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9d1/11297448/1ad3dda53fbf/SKI2-4-e389-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9d1/11297448/1ad3dda53fbf/SKI2-4-e389-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9d1/11297448/1ad3dda53fbf/SKI2-4-e389-g002.jpg

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Severe atypical juvenile pityriasis rubra pilaris diagnosed in adulthood with a dramatic improvement with ustekinumab.成年期诊断的重度非典型青少年毛发红糠疹，使用乌司奴单抗后显著改善。
Skin Health Dis. 2024 Apr 11;4(4):e389. doi: 10.1002/ski2.389. eCollection 2024 Aug.
2
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本文引用的文献

1
A novel variant with a severe phenotype in a patient with CARD14-associated papulosquamous eruption successfully treated with ixekizumab.一名患有CARD14相关丘疹鳞屑性皮疹的患者出现具有严重表型的新型变异体，使用司库奇尤单抗治疗成功。
Clin Exp Dermatol. 2024 May 21;49(6):661-664. doi: 10.1093/ced/llae019.
2
Missense Variant Underlying -Associated Papulosquamous Eruption with Beneficial Response to Secukinumab.与对司库奇尤单抗有良好反应相关的丘疹鳞屑性皮疹的潜在错义变异。
JID Innov. 2022 Dec 11;3(2):100174. doi: 10.1016/j.xjidi.2022.100174. eCollection 2023 Mar.
3
Clinical response of CARD14-associated papulosquamous eruption to an anti-interleukin-17A antibody.
CARD14 相关丘疹鳞屑性疹的临床应答与抗白细胞介素-17A 抗体。
Br J Dermatol. 2022 Sep;187(3):419-422. doi: 10.1111/bjd.21229. Epub 2022 May 20.
4
Pityriasis Rubra Pilaris Response to IL-17A Inhibition Is Associated with IL-17C and CCL20 Protein Levels.红皮病型毛发红糠疹对IL-17A抑制的反应与IL-17C和CCL20蛋白水平相关。
J Invest Dermatol. 2022 Jan;142(1):235-239.e1. doi: 10.1016/j.jid.2021.06.009. Epub 2021 Jul 9.
5
Identification of a pathogenic mutation in a 70-year-old woman with pityriasis rubra pilaris: when genetic diagnosis influences choice of treatment strategy.一位 70 岁女性患有毛发红糠疹：当基因诊断影响治疗策略选择时，鉴定出一种致病性突变。
BMJ Case Rep. 2021 Jan 11;14(1):e235287. doi: 10.1136/bcr-2020-235287.
6
CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris.CARD14 相关的丘疹鳞屑性发疹：包括银屑病和毛发红糠疹特征的谱。
J Am Acad Dermatol. 2018 Sep;79(3):487-494. doi: 10.1016/j.jaad.2018.02.034. Epub 2018 Mar 1.
7
A Review on Pityriasis Rubra Pilaris.一篇关于红癣的综述。
Am J Clin Dermatol. 2018 Jun;19(3):377-390. doi: 10.1007/s40257-017-0338-1.
8
Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14.依那西普治疗 CARD14 新错义突变致家族性化脓性穿通性毛囊角化病的疗效观察
Br J Dermatol. 2018 Apr;178(4):969-972. doi: 10.1111/bjd.15462. Epub 2017 Oct 1.
9
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Br J Dermatol. 2014 Aug;171(2):420-2. doi: 10.1111/bjd.12952. Epub 2014 Aug 6.
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Am J Hum Genet. 2012 Jul 13;91(1):163-70. doi: 10.1016/j.ajhg.2012.05.010. Epub 2012 Jun 14.