Mari Kudo, Nobuko Ishiura, Miwa Tamura‐Nakano, Teruo Shimizu, Masahiro Kamata, Eijiro Akasaka, Hajime Nakano, Yoshiaki Okuma, Yayoi Tada, Hitoshi Okochi, Takeshi Tamaki, Abnormal keratinization and cutaneous inflammation in Mal de Meleda, The Journal of Dermatology, 10.1111/1346-8138.15296, 47, 5, (554-558), (2020).
Abstract:
Mal de Meleda (OMIM # 248300; keratosis palmoplantaris transgrediens) is an autosomal recessive form of palmoplantar keratoderma, clinically characterized by sharp demarcated erythema and hyperkeratosis of the palms and soles that progress with age and extend to the dorsal aspects of the hands and feet. The mal de Meleda is caused by mutations in the SLURP 1 gene that encodes secreted lymphocyte antigen 6/urokinase‐type plasminogen receptor‐related protein 1 (SLURP 1). To date no reported cases from Indonesia. The aims of the study were to describe the typical features of mal de Meleda cases in a Javanese family in Indonesia and identify the mutation in the ARS B gene which encodes SLURP 1 .
License type:
PublisherCopyrights
Funding Info:
Research Laboratory of Molecular Dermatology, National Skin Center Singapore. Grant Number: NMRC/CG/011/2013
Staff development grant Department of Dermatology and Venereology, Faculty of Medicine, Universitas Gadjah Mada, Yogyakarta Indonesia
Description:
This is the peer reviewed version of the following article: Radiono, S., Pramono, Z.A.D., Oh, G.G.K., Surana, U., Widiyani, S. and Danarti, R. (2017), Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda. Int J Dermatol, 56: 1161-1168. https://doi.org/10.1111/ijd.13776, which has been published in final form at https://doi.org/10.1111/ijd.13776. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.