Pachyonychia Congenita With Involvement of the Larynx

Rodríguez, Hugo; Cuestas, Giselle; Zanetta, Adrián; Balbarrey, Ziomara

doi:10.1016/j.otoeng.2014.05.014

Cited by 3 publications

(8 citation statements)

References 10 publications

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“…Laryngeal involvement with leukokeratosis of the larynx is a less reported manifestation of PC. It usually presents as hoarseness, stridor and very rarely as a life‐threatening respiratory distress . Hoarseness in association with PC was reported as early as 1935, and in more recent studies from data collated by the International Pachyonychia Congenita Research Registry (www.pachyonychia.org) .…”

Section: Discussionmentioning

confidence: 99%

“…Laryngeal involvement is a less common feature. It might be asymptomatic but usually presents as hoarseness, stridor and, occasionally, as a life‐threatening respiratory distress . To date, few case reports of laryngeal involvement in patients with PC exist in the literature …”

Section: Summary Of Identified Mutations and Associated Mucosal Manifmentioning

confidence: 99%

“…It might be asymptomatic but usually presents as hoarseness, stridor and, occasionally, as a life-threatening respiratory distress. 4,5,[7][8][9][10][11][12][13][14][15] To date, few case reports of laryngeal involvement in patients with PC exist in the literature. [7][8][9][10][11][12][13][14][15] We present a case series of nine children with PC with symptomatic mucosal involvement, all with heterozygous mutations in KRT6A.…”

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confidence: 99%

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Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children

et al. 2019

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Summary 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.

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Section: Discussionmentioning

confidence: 99%

Section: Summary Of Identified Mutations and Associated Mucosal Manifmentioning

confidence: 99%

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confidence: 99%

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Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children

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“…Other features which may be associated include alopecia, keratosis pilaris, hyperhidrosis of the palms and soles, natal teeth, laryngeal involvement causing hoarseness of voice and corneal opacities [4]. Although mode of inheritance is autosomal dominant but autosomal recessive transmission has also been seen and even sporadic cases can also occur without any family history due to spontaneous mutation.…”

Section: Discussionmentioning

confidence: 99%

“…Onset is usually within first year of life and mode of inheritance is autosomal dominant. After first description by Muller in 1904, next reports were published by Wilson in 1905 and Jadassohn Lewandowsky in 1906 [3][4][5]. Further, depending on the genetic mutation and clinical correlations, 4 types of PC have been defined.…”

Section: Introductionmentioning

confidence: 99%

Jadassohn Lewandowsky syndrome: Type 1 pachyonychia congenita

Tiwary¹,

Mishra²

2017

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Jadassohn lewandowsky syndrome: A rare entity

2015

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Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis characterized by hyperkeratosis affecting the nails and palmoplantar areas, oral leucokeratosis, and cystic lesions. It is classically subdivided into two major variants, PC-1 (Jadassohn–Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome), according to the localization of the mutations in the KRT6A/KRT16 or KRT6B/KRT17 genes, respectively. We report a 9-year-old male patient with a history of thickened, discolored nails, raised spiny skin lesions all over the body since birth with focal plantar keratoderma and absence of natal teeth.

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Pachyonychia Congenita With Involvement of the Larynx

Cited by 3 publications

References 10 publications

Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children

Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children

Jadassohn Lewandowsky syndrome: Type 1 pachyonychia congenita

Jadassohn lewandowsky syndrome: A rare entity

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