title: Pachyonychia congenita type 2 (Jackson-Lawler syndrome) or PC-17: case report.
abstract: Pachyonychia congenita (PC) is a rare genodermatosis caused by mutations in any of the four genes KRT6A, KRT6B, KRT16, or KRT17, which can lead to dystrophic, thickened nails and focal palmoplantar keratoderma, among other manifestations. Although classically subdivided into two major variants, PC-1 (Jadassohn-Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome), according to the localization of the mutations in the KRT6A/KRT16 or KRT6B/KRT17 genes, respectively, a classification system based on the mutant gene (PC-6a, PC-6b, PC-16 and PC-17) has been recently proposed. We report a 2-year-old female patient with a history of thickened and discolored nails, small cystic papulonodules on the central face, dry, unruly and curly hair, slight palmoplantar hyperkeratosis, and natal teeth. Both her father and paternal grandfather presented onychodystrophy, palmoplantar keratoderma, and previous excision of "sebaceous" cysts. Molecular genetic analysis of the patient revealed a missense mutation (c.1163T>C) in heterozygosity in exon 6 of the KRT17 gene, confirming the diagnosis of PC-2 (Jackson-Lawler type), or PC-17. We conclude that PC is a relatively easy and consistent clinical diagnosis, but a high index of suspicion is required if the diagnosis is to be made correctly. With this case, the authors intend to draw attention to this condition and the role of the dermatologist in the diagnosis.
authors.affiliation: Department of Dermatology and Venereology Hospital Infante D. Pedro, Avenida Artur Ravara, 3814-501 Aveiro, Portugal. paulomoraiscardoso@gmail.com
authors.forename: Paulo
authors.initials: P
authors.lastname: Morais
authors.forename: Lígia
authors.initials: L
authors.lastname: Peralta
authors.forename: Manuela
authors.initials: M
authors.lastname: Loureiro
authors.forename: Sónia
authors.initials: S
authors.lastname: Coelho
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D053537:Keratin-17 / Q000235:genetics; D020125:Mutation, Missense; D053549:Pachyonychia Congenita / Q000145:classification / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
chemical_list: D053537:Keratin-17