British Journal of Dermatology · 2025 · 19 citations · 8 references
Life SciencesDermatologyGeneticsDermatopathologyHuman GeneticsMedical GeneticsCongenital Skin DisordersCutaneous Connective Tissue DisordersEctodermal DifferentiationGenetic DisordersGenetic SyndromesPeriodic Medical UpdatesProtein Function RelationshipsSkin Disease Genetics
The Reclassifying Epidermal Differentiation Disorders Initiative (REDDI) taskforce has introduced a pathogenesis-based classification for epidermal differentiation disorders (EDDs), to address limitations with the previous terminology. Replacing older terms, the updated classification groups EDDs by protein function and promotes genotyping, offering potential for targeted treatments. EDDs are now categorized as nonsyndromic (nEDD), syndromic (sEDD) or palmoplantar-focused (pEDD). This system supports healthcare providers, patients and caregivers in diagnosis and treatment, with the goal of improving clinical outcomes through periodic updates as new genetic insights emerge.
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A spatially localized DNA linear classifier for cancer diagnosis
Linlin Yang, Qian Tang, Mingzhi Zhang et al. · Nature Communications · 2024 · 53 citations · Full text