CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris.
CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris.
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DOI：
10.1016/j.jaad.2018.02.034
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发表时间：
2018-09
影响因子：
13.8
通讯作者：
Choate KA
中科院分区：
文献类型：
--
作者：
Craiglow BG;Boyden LM;Hu R;Virtanen M;Su J;Rodriguez G;McCarthy C;Luna P;Larralde M;Humphrey S;Holland KE;Hogeling M;Hidalgo-Matlock B;Ferrari B;Fernandez-Faith E;Drolet B;Cordoro KM;Bowcock AM;Antaya RJ;Ashack K;Ashack RJ;Lifton RP;Milstone LM;Paller AS;Choate KA
CARD14杂合突变与银屑病和家族性毛发红斑(PRP)相关。许多CARD14突变患者同时表现出这两种疾病的特征，这可能导致诊断的不确定性。此外，这些皮疹通常对传统的银屑病治疗方法如甲氨蝶呤、口服维甲酸和肿瘤坏死因子-α抑制剂具有顽固性。我们试图描述由于CARD14基因突变导致丘疹鳞状皮疹患者的临床特征、家族史和治疗反应。作为遗传性角化性疾病患者登记的一部分，受试者被转介进行基因测试。从血液或唾液中提取DNA，进行多重靶向下一代测序或整个外显子组测序。回顾CARD14基因突变受试者的临床病史。我们鉴定出15个家系患有CARD14相关丘疹鳞状皮疹(CAPE)。CAPE的特征包括起病年龄早，明显累及脸颊、下巴和耳朵，牛皮癣或PRP家族史，对传统的局部和系统性牛皮癣治疗反应很小，以及用Ustekinumab改善。样本量相对较小。许多CARD14基因突变的受试者同时表现出银屑病和PRP的特征。我们建议术语CARD14相关丘疹鳞状皮疹(CAPE)来描述这一疾病谱。临床特征提示CAPE的患者应该接受CARD14测序，并可能从Ustekinumab的治疗中受益。
Heterozygous mutations in CARD14 have been shown to be associated with psoriasis and familial pityriasis rubra pilaris (PRP). Many patients with CARD14 mutations display features of both disorders, which can result in diagnostic uncertainty. In addition, these eruptions are often recalcitrant to conventional psoriasis therapies such as methotrexate, oral retinoids and TNF-α inhibitors. We sought to describe the clinical characteristics, family history, and response to therapy in subjects with papulosquamous eruptions due to mutations in CARD14. Subjects were referred for genetic testing as part of a registry of patients with inherited disorders of keratinization. DNA was isolated from blood or saliva, and multiplex targeted next generation sequencing or whole exome sequencing was performed. Clinical histories of subjects with CARD14 mutations were reviewed. We identified 15 kindreds with CARD14-associated papulosquamous eruption (CAPE). Characteristic features of CAPE include early age of onset, prominent involvement of the cheeks, chin and ears, family history of psoriasis or PRP, minimal response to conventional topical and systemic psoriasis therapies, and improvement with ustekinumab. Relatively small sample size. Many subjects with CARD14 mutations display characteristics of both psoriasis and PRP. We propose the term CARD14-associated papulosquamous eruption (CAPE) to describe this spectrum of disease. Patients with clinical features suggestive of CAPE should undergo CARD14 sequencing and may benefit from treatment with ustekinumab.
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