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Case Report: Challenges in the Diagnosis of a Case of Mal de Meleda and a Therapeutic Attempt of Ixekizumab and Adalimumab.
Dai, Yuwei; Zheng, Xiaodong; Zhang, Qi; Hu, Xia; Wang, Peiguang; Yang, Sen.
Afiliación
  • Dai Y; Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China.
  • Zheng X; Institute of Dermatology, Anhui Medical University, Hefei, China.
  • Zhang Q; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China.
  • Hu X; Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China.
  • Wang P; Ferry Outpatient Department, The Ferry Skin Research Institute, Hefei, China.
  • Yang S; Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China.
Front Med (Lausanne) ; 9: 821301, 2022.
Article en En | MEDLINE | ID: mdl-35360724
Background: Mal de Meleda (MDM, OMIM 248300) is an autosomal recessive disease characterized by symmetrical and progressive palmoplantar hyperkeratosis soon after birth. Mutations in SLURP1 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 SLURP1 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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Front Med (Lausanne) Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Front Med (Lausanne) Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza