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Laryngeal manifestations of pachyonychia congenita: a clinical case and discussion on management for the otolaryngologist

Published online by Cambridge University Press:  20 October 2016

A M O'Kane ,
C P Jackson ,
M Mahadevan  and
C Barber
A M O'Kane*
Affiliation:
Department of Paediatric Otolaryngology, Starship Children's Hospital, Auckland, New Zealand
C P Jackson
Affiliation:
Department of Paediatric Otolaryngology, Starship Children's Hospital, Auckland, New Zealand
M Mahadevan
Affiliation:
Department of Paediatric Otolaryngology, Starship Children's Hospital, Auckland, New Zealand
C Barber
Affiliation:
Department of Paediatric Otolaryngology, Starship Children's Hospital, Auckland, New Zealand
*
Address for correspondence: Dr Anna M O'Kane, 27 Cleaver Avenue, Belfast BT9 5JA, Northern Ireland, UK Fax: 02890 665 778 E-mail: [email protected]
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Abstract

Background:

Pachyonychia congenita is a rare keratinising disorder, which typically presents during the first three years of life and usually affects the nails and palmoplantar surfaces. It can involve the larynx and potentially result in life-threatening airway obstruction.

Methods:

A case report is presented and the findings of a literature review are reported. The review involved a PubMed search using the keywords ‘pachyonychia congenita’ together with ‘larynx’, ‘laryngeal involvement’, ‘laryngeal obstruction’, ‘airway obstruction’, ‘hoarseness’ and/or ‘stridor’.

Results:

A five-year-old boy, with confirmed pachyonychia congenita, presented with complications of laryngeal involvement over a four-year period. He required three intubations and a tracheostomy for acute airway obstruction. Treatment with potassium titanyl phosphate laser laryngoscopy stabilised the progression of laryngeal disease.

Conclusion:

Patients with pachyonychia congenita and laryngeal involvement can have a varied presentation, ranging from hoarseness to acute airway obstruction. Management can be a challenge, requiring early evaluation, regular surveillance and aggressive treatment. This paper reports our experience in managing and treating the laryngeal complications of a child with pachyonychia congenita.

Keywords

Pachyonychia CongenitaLarynxComplicationsAirway ObstructionHoarsenessStridor
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 131 , Supplement S2: ASOHNS Supplement , July 2017 , pp. S53 - S56
Copyright
Copyright © JLO (1984) Limited 2016 

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Footnotes

Presented as a poster at the 15th British Academic Conference in Otolaryngology, 8–10 July 2015, Liverpool, UK.

References

1 Jadassohn, J, Lewandowsky, F. Pachyonychia Congenita: Keratosis Disseminata Circumscripta (Folliculosis). Ikonographia Dermatologica. Berlin: Urban and Schwarzenberg, 1906 Google Scholar
2 Leachman, SA, Kaspar, RL, Fleckman, P, Florell, SR, Smith, FJ, McLean, WH et al. Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc 2005;10:3–17 CrossRefGoogle ScholarPubMed
3 Eliason, MJ, Leachman, SA, Feng, BJ, Schwartz, ME, Hansen, CD. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. J Am Acad Dermatol 2012;67:680–6CrossRefGoogle ScholarPubMed
4 Wilson, NJ, Leachman, SA, Hansen, CD, McMullan, AC, Milstone, LM, Schwartz, ME et al. A large mutational study in pachyonychia congenita. J Invest Dermatol 2011;131:1018–24CrossRefGoogle ScholarPubMed
5 McLean, WH, Hansen, CD, Eliason, MJ, Smith, FJ. The phenotypic and molecular genetic features of pachyonychia congenita. J Invest Dermatol 2011;131:1015–17CrossRefGoogle ScholarPubMed
6 McLean, WH, Smith, FJ, Cassidy, AJ. Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database. J Investig Dermatol Symp Proc 2005;10:31–6CrossRefGoogle ScholarPubMed
7 McLean, WH, Moore, CB. Keratin disorders: from gene to therapy. Hum Mol Genet 2011;20:R189–97 CrossRefGoogle ScholarPubMed
8 Benjamin, B, Parsons, DS, Molloy, HF. Pachyonychia congenita with laryngeal involvement. Int J Pediatr Otorhinolaryngol 1987;13:205–9CrossRefGoogle ScholarPubMed
9 Shah, S, Boen, M, Kenner-Bell, B, Schwartz, M, Rademaker, A, Paller, AS. Pachyonychia congenita in paediatric patients: natural history, features, and impact. JAMA Dermatol 2014;150:146–53CrossRefGoogle ScholarPubMed
10 Haber, RM, Drummond, D. Pachyonychia congenita with laryngeal obstruction. Paediatr Dermatol 2011;28:429–32CrossRefGoogle ScholarPubMed
11 Cohn, AM, McFarlene, JR, Knox, J. Pachyonychia congenita with involvement of the larynx. Arch Otolaryngol 1976;102:233–5CrossRefGoogle ScholarPubMed
12 Stieglitz, JB, Centerwall, WR. Pachyonychia congenita (Jadassohn-Lewandowsky syndrome): a seventeen-member, four-generation pedigree with unusual respiratory and dental involvement. Am J Med Genet 1983;14:21–8CrossRefGoogle ScholarPubMed
13 Wudy, SA, Lenders, H, Pirsig, W, Mohr, W, Teller, WM. Diagnosis and management of laryngeal obstruction in childhood pachyonychia congenita. Int J Pediatr Otorhinolaryngol 1995;31:109–15CrossRefGoogle ScholarPubMed