ISSN 1308-8734 | E-ISSN 1308-8742
Case Report
A case of Mal de Meleda in whom a novel gene mutation was identified
1 Department of Dermatology, Bozok University School of Medicine, Yozgat, Turkey  
2 Department of Medical Genetics, Osmangazi University School of Medicine, Eskişehir, Turkey  
3 Department of Pathology, Bozok University School of Medicine, Yozgat, Turkey  
Eurasian J Med ; : -
DOI: 10.5152/eurasianjmed.2018.18215
Key Words: Mal de Meleda, palmoplantar keratoderma, SLURP1.
Abstract

Mal de Meleda, otherwise known as keratoderma palmoplantaris transgrediens, is a rare type of autosomal recessive palmoplantar keratoderma. A 19-year-old male patient presented with a congenital yellowish discoloration and thickening of both palms and the soles of the feet. His family history revealed no consanguinity between the mother and father, and that he had three healthy brothers. Second and third degree relatives also exhibited similar skin findings in five females and one male. From the isolated DNA samples, the extrinsic regions of the SLURP1 gene were screened using sequence analysis and Sanger sequencing was performed with the 3130 Sequence Analyzer. Results of this analysis show that, a p.Arg 96 Pro (R96P) (c.287 CGA>CCA) homozygous missense point mutation was detected on the SLURP 1( a secreted toxin-like mammalian lymphocyte antigen 6/urokinase-type plasminogen activator receptor-related protein 1) gene of the patients, while heterozygous p.Arg 96 Pro (R96P) (c.287 CGA>CCA) mutation was detected in the mother, father and brothers. Our search of the human genome mutation database (HGMD) and previous literature revealed no previous report of this mutation in Mal de Meleda. In conclusion, we report this case due to the identification of a novel gene mutation in a patient with Mal de Meleda, a palmoplantar keratoderma.

 

Cite this article as: Gurel G, Cilingir O, Kutlay O, Arslan S, Sahin S, Colgecen E. A case of Mal de Meleda in whom a novel gene mutation was identified. Eurasian J Med 2018; DOI: 10.5152/eurasianjmed.2018.18215

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