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Pachyonychia congenita type 2 (Jackson-Lawler syndrome) or PC-17: a case report
Paulo Morais
; Department of Dermatology and Venereology, Hospital Infante D. Pedro, Aveiro, Portugal
Lígia Peralta
; Department of Pediatrics, Hospital Infante D. Pedro, Aveiro, Portugal
Manuela Loureiro
; Department of Dermatology and Venereology, Hospital Infante D. Pedro, Aveiro, Portugal
Sónia Coelho
; Department of Dermatology and Venereology, Hospital Infante D. Pedro, Aveiro, Portugal
Abstract
Pachyonychia congenita (PC) is a rare genodermatosis caused by mutations in any of at least 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), depending on if mutations are in KRT6A/KRT16 or KRT6B/KRT17 genes, respectively, a classification system based on the mutant gene (PC-6a, PC-6b, PC-16 and PC-17) was 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 girl revealed a missense mutation (c.1163T>C) in heterozygosity in exon 6 of 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.
Keywords
Hrčak ID:
101620
URI
Publication date:
10.5.2013.
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