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Pachyonychia Congenita with Laryngeal Obstruction
Author(s) -
Haber Richard M.,
Drummond Derek
Publication year - 2011
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2011.01232.x
Subject(s) - medicine , larynx , stridor , laryngoscopy , respiratory distress , genodermatosis , laryngomalacia , dermatology , laryngeal diseases , dyskeratosis congenita , airway obstruction , surgery , intubation , telomere , dna , airway , biochemistry , chemistry , genetics , biology , gene
Abstract: Pachyonychia 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.