AUTHOR=Dai Yuwei , Zheng Xiaodong , Zhang Qi , Hu Xia , Wang Peiguang , Yang Sen 

TITLE=Case Report: Challenges in the Diagnosis of a Case of Mal de Meleda and a Therapeutic Attempt of Ixekizumab and Adalimumab

JOURNAL=Frontiers in Medicine

VOLUME=9

YEAR=2022

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2022.821301

DOI=10.3389/fmed.2022.821301

ISSN=2296-858X

ABSTRACT=<sec><title>Background</title><p>Mal de Meleda (MDM, OMIM 248300) is an autosomal recessive disease characterized by symmetrical and progressive palmoplantar hyperkeratosis soon after birth. Mutations in <italic>SLURP1</italic> gene could lead to MDM. Clinically, MDM is easily misdiagnosed as other types of keratoderma due to phenotypic variation and overlap.</p></sec><sec><title>Objective and Methods</title><p>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.</p></sec><sec><title>Results</title><p>A homozygous mutation c.256G&gt;A (p.Gly86Arg) in the <italic>SLURP1</italic> 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.</p></sec><sec><title>Conclusions</title><p>Our findings helps to enhance the understanding of MDM. Ixekizumab may be a potential strategy to treat MDM.</p></sec>