病例报告：一例梅勒达病诊断中的挑战以及使用司库奇尤单抗和阿达木单抗的治疗尝试
Case Report: Challenges in the Diagnosis of a Case of Mal de Meleda and a Therapeutic Attempt of Ixekizumab and Adalimumab.
作者信息
Dai Yuwei, Zheng Xiaodong, Zhang Qi, Hu Xia, Wang Peiguang, Yang Sen
机构信息
Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China.
Institute of Dermatology, Anhui Medical University, Hefei, China.
出版信息
Front Med (Lausanne). 2022 Mar 10;9:821301. doi: 10.3389/fmed.2022.821301. eCollection 2022.
BACKGROUND
Mal de Meleda (MDM, OMIM 248300) is an autosomal recessive disease characterized by symmetrical and progressive palmoplantar hyperkeratosis soon after birth. Mutations in gene could lead to MDM. Clinically, MDM is easily misdiagnosed as other types of keratoderma due to phenotypic variation and overlap.
OBJECTIVE AND METHODS
A patient with suspected MDM was confirmed by the combination of next-generation sequencing and Exomiser, and the patient was attempted with the treatment of Ixekizumab and Adalimumab.
RESULTS
A homozygous mutation c.256G>A (p.Gly86Arg) in the gene was identified in the patient. The inflammatory erythemas on his hands, feet and buttocks were mildly relieved after the treatment of high dose of Ixekizumab.
CONCLUSIONS
Our findings helps to enhance the understanding of MDM. Ixekizumab may be a potential strategy to treat MDM.
背景
梅勒达病（MDM，OMIM 248300）是一种常染色体隐性疾病，其特征为出生后不久即出现对称性进行性掌跖角化过度。该基因的突变可导致MDM。临床上，由于表型变异和重叠，MDM很容易被误诊为其他类型的角化病。
目的与方法
一名疑似MDM的患者通过二代测序和Exomiser软件相结合得到确诊，并尝试使用司库奇尤单抗和阿达木单抗对该患者进行治疗。
结果
在该患者中鉴定出该基因的一个纯合突变c.256G>A（p.Gly86Arg）。高剂量司库奇尤单抗治疗后，他手部、足部和臀部的炎性红斑得到轻度缓解。
结论
我们的研究结果有助于增强对MDM的理解。司库奇尤单抗可能是治疗MDM的一种潜在策略。
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