Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children.
Journal
The British journal of dermatology
ISSN: 1365-2133
Titre abrégé: Br J Dermatol
Pays: England
ID NLM: 0004041
Informations de publication
Date de publication:
03 2020
03 2020
Historique:
accepted:
25
11
2019
pubmed:
30
11
2019
medline:
15
5
2021
entrez:
29
11
2019
Statut:
ppublish
Résumé
Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis caused by a mutation in any one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16 or KRT17). Characteristic features of PC are painful palmoplantar keratoderma, variable nail dystrophy, cysts, follicular hyperkeratosis and often oral leukokeratosis. Although oral leukokeratosis can go unnoticed, mucosal involvement of the oral cavity and upper airways can manifest with pain during feeding, hoarseness, stridor and, occasionally, life-threatening obstruction. To characterize patients with PC with symptomatic mucosal involvement. We present a case series of nine children with PC with symptomatic mucosal involvement, all with heterozygous mutations in KRT6A. Seven patients complained of painful feeding problems. Four patients were diagnosed with failure to thrive, three of whom required a feeding tube. Simple feeding solutions were beneficial in most cases. Seven patients had laryngeal involvement and one patient died at 4 years of age from acute laryngeal obstruction. It is important for dermatologists and otolaryngologists to be aware that symptomatic mucosal involvement, and very rarely laryngeal obstruction, can occur in patients with PC. Usually simple feeding solutions may prevent complications and failure to thrive. What's already known about this topic? Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis due to a mutation in any one of five keratin genes. Symptomatic mucosal involvement is an important clinical feature of PC and appears to be more pronounced in KRT6A mutation carriers. Only leukokeratosis is frequently seen in PC and can be one of the earliest signs of disease. Laryngeal involvement is a less common feature. It might be symptomatic but usually presents as hoarseness, stridor and, occasionally, as a life-threatening respiratory distress. What does this study add? In most cases of laryngeal involvement, there is no need for any intervention. Although pain and feeding difficulties are usually attributed to the oral leukokeratosis, they can be related to a phenomenon called 'first bite syndrome' (FBS). Symptomatic mucosal involvement with feeding difficulty is important but can be managed in most cases with simple feeding solutions (e.g. softer nipple with a larger hole, thicker formula and feeding with a syringe). Linked Comment: Youssefian and Vahidnezhad. Br J Dermatol 2020; 182:536-537.
Sections du résumé
BACKGROUND
Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis caused by a mutation in any one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16 or KRT17). Characteristic features of PC are painful palmoplantar keratoderma, variable nail dystrophy, cysts, follicular hyperkeratosis and often oral leukokeratosis. Although oral leukokeratosis can go unnoticed, mucosal involvement of the oral cavity and upper airways can manifest with pain during feeding, hoarseness, stridor and, occasionally, life-threatening obstruction.
OBJECTIVES
To characterize patients with PC with symptomatic mucosal involvement.
METHODS
We present a case series of nine children with PC with symptomatic mucosal involvement, all with heterozygous mutations in KRT6A. Seven patients complained of painful feeding problems. Four patients were diagnosed with failure to thrive, three of whom required a feeding tube. Simple feeding solutions were beneficial in most cases. Seven patients had laryngeal involvement and one patient died at 4 years of age from acute laryngeal obstruction.
CONCLUSIONS
It is important for dermatologists and otolaryngologists to be aware that symptomatic mucosal involvement, and very rarely laryngeal obstruction, can occur in patients with PC. Usually simple feeding solutions may prevent complications and failure to thrive. What's already known about this topic? Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis due to a mutation in any one of five keratin genes. Symptomatic mucosal involvement is an important clinical feature of PC and appears to be more pronounced in KRT6A mutation carriers. Only leukokeratosis is frequently seen in PC and can be one of the earliest signs of disease. Laryngeal involvement is a less common feature. It might be symptomatic but usually presents as hoarseness, stridor and, occasionally, as a life-threatening respiratory distress. What does this study add? In most cases of laryngeal involvement, there is no need for any intervention. Although pain and feeding difficulties are usually attributed to the oral leukokeratosis, they can be related to a phenomenon called 'first bite syndrome' (FBS). Symptomatic mucosal involvement with feeding difficulty is important but can be managed in most cases with simple feeding solutions (e.g. softer nipple with a larger hole, thicker formula and feeding with a syringe). Linked Comment: Youssefian and Vahidnezhad. Br J Dermatol 2020; 182:536-537.
Substances chimiques
Keratin-6
0
Keratins
68238-35-7
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
708-713Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2019 British Association of Dermatologists.
Références
Eliason MJ, Leachman SA, Feng BJ et al. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. J Am Acad Dermatol 2012; 67:680-6.
O'Toole EA, Kaspar RL, Sprecher E et al. Pachyonychia congenita cornered: report on the 11th Annual International Pachyonychia Congenita Consortium Meeting. Br J Dermatol 2014; 171:974-7.
Liao H, Sayers JM, Wilson NJ et al. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. Dermatol Sci 2007; 48:199-205.
Leachman SA, Kaspar RL, Fleckman P et al. Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc 2005; 10:3-17.
Spaunhurst KM, Hogendorf AM, Smith FJ et al. Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16. Br J Dermatol 2012; 166:875-8.
Shah S, Boen M, Kenner-Bell B et al. Pachyonychia congenita in pediatric patients: natural history, features, and impact. JAMA Dermatol 2014; 150:146-53.
Cohn AM, McFarlane JR, Knox J. Pachyonychia congenita with involvement of the larynx. Arch Otolaryngol 1976; 102:233-5.
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; 14:21-8.
Benjamin B, Parsons DS, Molloy HF. Pachyonychia congenita with laryngeal involvement. Int J Pediatr Otorhinolaryngol 1987; 13:205-9.
Hersh SP. Pachyonychia congenita. Manifestations for the otolaryngologist. Arch Otolaryngol Head Neck Surg 1990; 116:732-4.
Wudy SA, Lenders H, Pirsig W et al. Diagnosis and management of laryngeal obstruction in childhood pachyonychia congenita. Int J Pediatr Otorhinolaryngol 1995; 31:109-15.
Haber RM, Drummond D. Pachyonychia congenita with laryngeal obstruction. Pediatr Dermatol 2011; 28:429-32.
Rodríguez H, Cuestas G, Zanetta A et al. Pachyonychia congenita with involvement of the larynx. Acta Otorrinolaringol Esp 2014; 65:208-10.
da Silva Santos PS, Mannarino F, Lellis RF et al. Oral manifestations of pachyonychia congenita. Dermatol Online J 2010; 16:3.
Ceyhan AM, Yildirim M, Akkaya VB et al. Persistent hoarseness in a patient with pachyonychia congenita: an early sign of laryngeal involvement. Int J Dermatol 2009; 48:1346-8.
Wilson NJ, O'Toole EA, Milstone LM et al. The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol 2014; 171:343-55.
Wilson NJ, Leachman SA, Hansen CD et al. A large mutational study in pachyonychia congenita. J Invest Dermatol 2011; 131:1018-24.
Linkov G, Morris LG, Shah JP et al. First bite syndrome: incidence, risk factors, treatment, and outcomes. Laryngoscope 2012; 122:1773-8.
Laccourreye O, Werner A, Garcia D et al. First bite syndrome. Eur Ann Otorhinolaryngol Head Neck Dis 2013; 130:269-73.
Abdeldaoui A, Oker N, Duet M et al. First bite syndrome: a little known complication of upper cervical surgery. Eur Ann Otorhinolaryngol Head Neck Dis 2013; 130:123-9.
Kumer L, Loos H. Uber pachyonychia congenita. Wien Klin Wochenschr 1935; 48:174-9.
O'Kane AM, Jackson CP, Mahadevan M et al. Laryngeal manifestations of pachyonychia congenita: a clinical case and discussion on management for the otolaryngologist. J Laryngol Otol 2017; 131:S53-6.