A systematic review of reported cases of pachyonychia congenita tarda

Clin Exp Dermatol. 2019 Aug;44(6):606-612. doi: 10.1111/ced.13980. Epub 2019 May 10.


Pachyonychia congenita (PC) describes a group of genodermatoses manifesting as thickened nails, palmoplantar keratoderma (PPK) and increased risk of cutaneous infections. PC tarda (PCT) describes late-onset PC, and associated genetic polymorphisms have been identified. There has been discussion that PCT may not be a distinct entity but rather misdiagnosed ectodermal dysplasia (ED) or PPK. Clarification of this is important for appropriate diagnosis, management and patient and genetic counselling. We aimed to conduct a systematic review of all reported cases of PCT in the published literature and collate evidence of genetic polymorphisms and clinical features to compare with known features of PC, ED and PPK. PubMed (1946 to 1 July 2018), Scopus (1955 to 1 July 2018) and Web of Science (1990 to 1 July 2018) databases were searched for case reports of PCT with no search restrictions on date or language. The search strategy included the terms pachyonychia congenita tarda OR pachyonychia congenita AND (late onset OR delayed OR PCT). In total, 13 reports describing 19 individual cases of PCT were identified. Of the three identified genetic polymorphisms, the earliest identified has been shown to be highly probably pathogenic, with the second likely to result in a benign amino acid change, while the third has since been shown to be nonpathogenic,. No epigenetic studies have been performed on any reported cases. Previous authors have suggested that a number of cases of PCT may be misdiagnosed ED or PPK. The findings of our review cannot refute this suggestion, and highlight the need for thorough clinical documentation of suspected cases of PCT and thorough genetic screening of kindred to identify causative genetic polymorphisms. Further high-quality datasets and reporting are needed to give further insight into the nature of PCT as a unique entity.

Publication types

  • Comparative Study
  • Systematic Review

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Diagnostic Errors
  • Ectodermal Dysplasia / pathology
  • Female
  • Humans
  • Keratoderma, Palmoplantar / pathology
  • Male
  • Middle Aged
  • Nail Diseases / genetics
  • Nail Diseases / pathology*
  • Nails, Malformed / genetics
  • Nails, Malformed / pathology*
  • Pachyonychia Congenita / diagnosis
  • Pachyonychia Congenita / genetics
  • Pachyonychia Congenita / pathology*
  • Polymorphism, Genetic
  • Young Adult