yemenjmedYemen Journal of MedicinecoVolume 5 Issue 2MultidisciplinaryEnglishMay-August 2026NNY20260722ArticleMal de Meleda Masquerading as Nagashima- Type Palmoplantar Keratoderma: A Genetically Confirmed Case from PakistanEnglishY431436FarsomAyub1EnglishNHiraTariq2EnglishYWahiYasmin3EnglishYUzmaAmin4EnglishYSaelahBatool5EnglishYFariaAsad6EnglishY10.63475/yjm.v5i2.0400Mal de Meleda (MDM) is a rare autosomal recessive palmoplantar keratoderma (PPK) caused by pathogenic variants in the SLURP1 gene. Its early clinical manifestations can overlap considerably with Nagashima-type palmoplantar keratoderma (NPPK), which is caused by biallelic variants in SERPINB7, creating diagnostic uncertainty. We describe a 36-year-old Pakistani male born of a consanguineous union, presenting with congenital PPK initially resembling NPPK clinically. Molecular testing using clinical exome sequencing identified a homozygous pathogenic nonsense variant in SLURP1 (c.286C>T; p.Arg96*), confirming autosomal recessive MDM. An additional heterozygous pathogenic missense variant in WNT10A (c.682T>A; p.Phe228Ile) was also identified. Progressive transgradient hyperkeratosis, hyperhidrosis, malodorous maceration, and recurrent dermatophyte superinfection supported the final diagnosis. This case underscores the importance of longitudinal clinical assessment combined with molecular genetic testing in hereditary PPKs with overlapping phenotypes, particularly in consanguineous populations. No pathogenic variants were identified in SERPINB7 on clinical exome sequencing, definitively excluding NPPK. It also highlights both the value of clinical exome sequencing for accurate diagnosis and genetic counselling, and the potential relevance of additional ectodermal variants such as WNT10A detected incidentally on comprehensive genomic panels.EnglishMal de Meleda, palmoplantar keratoderma, SLURP1, Nagashima-type keratoderma, SERPINB7, genetic diagnosis, consanguinityhttps://yemenjmed.com/admin/abstract?id=434References1619