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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. [ABSTRACT FROM AUTHOR]

This is a report of the research presented at the 11th Annual Meeting of the International Pachyonychia Congenita Consortium, held on 6 May 2014 in Albuquerque, NM, U.S.A. This year's meeting was divided into five corners concerning pachyonychia congenita ( PC) research: (i) ' PC Pathogenesis Cornered', an overview of recent keratin research, for PC and other skin disorders; (ii) ' From All Corners of ...', an outline of other genetic disorders that we can learn from; (iii) ' Fighting For Our Corner', an outline of National Institutes of Health/ National Institute of Arthritis and Musculoskeletal and Skin Diseases programmes and U. S. funding opportunities applicable to rare skin disorders; (iv) 'The PC Corner', focusing on recent clinical studies related to PC; and (v) 'Clinical Corners: Turning the Corner?', an update on ongoing PC clinical trials. [ABSTRACT FROM AUTHOR]

Background Numerous therapeutic modalities have been proposed to treat the manifestations of pachyonychia congenita ( PC). While research hopes lie with molecular therapies, patients are in need of answers regarding the efficacy of conventional treatments. Aim of the study To determine patients' experience and preferences regarding conventional treatments for PC. Methods The study population included 120 PC patients from 20 countries. The study was based on a patient survey developed by physicians and researchers from the International Pachyonychia Congenita Consortium and conducted via the internet. Using an effectiveness scale of 1 to 5, the patients were asked to grade treatments for different manifestations, including keratoderma, cysts, follicular hyperkeratosis, fingernail and toenail involvement. Results Patients reported surgical treatments being most effective for cysts and mechanical treatments the most effective conventional therapeutic approach for all other investigated manifestations. The other conventional medical treatments were found to be non-effective to only slightly effective. Among patients with keratoderma, older people were more likely to report beneficial effect from mechanical treatments ( P = 0.04), topical retinoids ( P = 0.04) and topical steroids ( P = 0.02). Likewise, females were more inclined to report filing and grinding beneficial than males ( P = 0.02). Finally, carriers of KRT16 and KRT6a were more likely to benefit from keratolytics than carriers of mutations in KRT17 ( P = 0.04). Conclusions None of the currently available therapeutic options for PC are ideal, although they provide some relief, with mechanical/surgical options being preferred over medical therapies. These results emphasize the need for more efficient and targeted therapies. [ABSTRACT FROM AUTHOR]

The article describes the case of seven patients with Clouston syndrome cause by mutations in the GJB6 gene encoding connexin 30. It discusses the characterization of Clouston syndrome, the occurrence of nail dystrophy in majority of the patients, hair changes in the patients, and misdiagnosis of the patients.