Thelansis

  Pachyonychia congenital (PC) is a rare disorder characterized by a trio of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It is an autosomal dominant inherited condition associated with impaired mobility, potentially debilitating. PC diagnosis is primarily clinical, accompanied by detecting a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each mutation in these genes presents a unique clinical phenotype, varying in the age of onset and presenting additional features, allowing for genotype-based classification. Additional symptoms may include pilosebaceous cysts, follicular hyperkeratosis, natal teeth, oral leukokeratosis, hidradenitis suppurativa, itching, and involvement of neurovascular structures. Although categorized as rare, the true prevalence of PC is likely underestimated. Presently, there is no definitive cure or targeted treatment for PC. Available interventions primarily focus on co...