title: Pachyonychia Congenita (Jadassohn-Lewandowsky syndrome): a seventeen-member, four-generation pedigree with unusual respiratory and dental involvement.
abstract: Pachyonychia Congenita (PC) is an autosomal dominant syndrome of thick nails and other epithelial defects. A hospitalization for severe respiratory distress in a 3-year-old boy with PC and an affected father led to the discovery of 17 affected persons in a kindred spanning four generations. Nine relatives had varying degrees of upper respiratory tract obstruction, and eleven had dental aberrations. We review PC and discuss other unusual findings in this kindred, ie, arthritis in four affected relatives and a discrepancy between expected and observed ratios of affected to unaffected offspring of mothers with PC.
mesh_terms: D000328:Adult; D002675:Child, Preschool; D007644:Darier Disease / Q000235:genetics*; D003731:Dental Caries / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D007829:Laryngostenosis / Q000235:genetics*; D007972:Leukoplakia, Oral / Q000235:genetics; D008297:Male; D009264:Nails, Malformed / Q000235:genetics*; D010375:Pedigree; D013546:Sweating; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*