• Pediatric dermatology · Jul 2011

    Case Reports

    Pachyonychia congenita with laryngeal obstruction.

    • Richard M Haber and Derek Drummond.
    • Division of Dermatology, Department of Medicine, University of Calgary, Calgary, AB, Canada. Richard.haber@albertahealthservices.ca
    • Pediatr Dermatol. 2011 Jul 1; 28 (4): 429-32.

    AbstractPachyonychia congenita is a rare genodermatosis that can affect the larynx. Laryngeal obstruction is very unusual with only a few cases reported. A 2-year-old girl presented with typical clinical features of pachyonychia congenita shortly after birth. At age 9 months, following an upper respiratory infection, she developed stridor and hoarseness and was found to have severe laryngeal obstruction, which was felt to be secondary to pachyonychia congenita based on direct laryngoscopy and laryngeal biopsy. Leukokeratosis of her larynx was treated with CO(2) laser on three occasions, with improvement in her respiratory distress after each treatment. This report is the first case of pachyonychia congenita with laryngeal obstruction in which the gene mutation has been established (a deletional mutation in K6a), confirming that laryngeal obstruction can occur in PC-1.© 2011 Wiley Periodicals, Inc.

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