Pachyonychia Congenita.
Smith FJD, Hansen CD, Hull PR, Kaspar RL, McLean WHI, O’Toole E, Sprecher E.
Smith FJD, et al.
2006 Jan 27 [updated 2017 Nov 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2006 Jan 27 [updated 2017 Nov 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 20301457
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DIAGNOSIS/TESTING: PC is diagnosed by clinical findings and/or by the identification of a heterozygous pathogenic variant in one of the five keratin genes known to cause PC: KRT6A, KRT6B, KRT6C, KRT16, and KRT17. MANAGEMENT: Treatment of manifestations: Pain from the palmo …
DIAGNOSIS/TESTING: PC is diagnosed by clinical findings and/or by the identification of a heterozygous pathogenic variant in one of the five …