Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16

Spaunhurst, Katrina; Hogendorf, Anna; Smith, Frances J.D.; Lingala, Bharathi; Schwartz, Mary E.; Cywińska-Bernas, Agnieszka; Zeman, Krzysztof; Tang, Jean Y.

doi:10.1111/j.1365-2133.2011.10745.x

Cited by 32 publications

(40 citation statements)

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“…Symptomatic mucosal involvement with leukokeratosis of the mouth and upper airways, as well as the larynx, is an important clinical feature of PC. It appears to be more pronounced in KRT6A mutation carriers . Oral leukokeratosis is frequently seen in PC and can be one of the earliest signs of disease.…”

Section: Summary Of Identified Mutations and Associated Mucosal Manifmentioning

confidence: 97%

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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: Summary Of Identified Mutations and Associated Mucosal Manifmentioning

confidence: 97%

“…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%

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

et al. 2019

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“…Phenotypic overlap among PC genotypes has been observed, and none of the clinical features described is specific to a particular gene . However, patients with mutations in KRT6A, like our patient, tend to have more extensive disease and will most likely present oral leukokeratosis …”

Section: Discussionmentioning

confidence: 80%

Nail dystrophy and oral leukoplakia in a 3‐year‐old girl

Fustà‐Novell

Fatsini‐Blanch

Prat

et al. 2019

Pediatric Dermatology

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“…Interestingly, a large-scale phenotypic and molecular study of the disease has revealed that despite the name of the syndrome, nail involvement is not universal in PC [1]. In contrast, palmoplantar involvement is universally found in adult PC patients whose diagnosis has been confirmed at the molecular level [1,5]. In fact, some patients solely manifest thickening of the plantar skin surface, which may under certain circumstances lead to confusion with other forms of hereditary palmoplantar keratoderma [6].…”

Section: Introductionmentioning

confidence: 99%

“…In fact, some patients solely manifest thickening of the plantar skin surface, which may under certain circumstances lead to confusion with other forms of hereditary palmoplantar keratoderma [6]. A very typical feature of plantar hyperkeratosis in PC patients is the existence of severely debilitating pain, confining many patients to wheelchairs from childhood [1,5,6]. The reported severity of plantar pain often bears little correlation to the extent of the callus, what could indicate that factors other than pressure from the callus itself may contribute to the pain [1,7].…”

Section: Introductionmentioning

confidence: 99%

Comparative Study of High-Resolution Multifrequency Ultrasound of the Plantar Skin in Patients with Various Types of Hereditary Palmoplantar Keratoderma

et al. 2013

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Background: High-variable-frequency ultrasound is used as an imaging tool for various cutaneous disorders. We utilized this tool in pachyonychia congenita (PC) patients, who typically present with plantar hyperkeratosis and often severely debilitating pain, compared to patients with epidermolytic palmoplantar keratoderma (EPPK) and mal de Meleda (MDM). Objective: To ascertain the feasibility of ultrasound technology for the diagnosis of PC. Methods: The study included a total of 16 patients, 7 with PC, 5 with EPPK and 4 with MDM, who underwent ultrasound examination of the plantar skin with high-resolution multifrequency ultrasound equipment. Results: Ultrasound scans performed over the proximal and distal plantar foot calluses in PC patients demonstrated hyperechoic dots and lines within the epidermis compatible with hyperkeratosis, engorged varicose veins in the dermis and an anechoic layer interposed between the epidermis and the dermis, corresponding to blister fluid below the calluses. In contrast to PC patients, patients with MDM and EPPK demonstrated no blisters. Conclusion: PC patients, as opposed to a group of patients with MDM and EPPK, displayed subepidermal blistering beneath their calluses. This finding may help in the diagnosis of PC and in partially explaining plantar pain as part of PC symptomatology.

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Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16

Abstract: Phenotypic differences between patients with KRT6A and KRT16 mutations support adoption of a new classification system based on the mutant gene (PC-6a, PC-16) rather than the PC-1 nomenclature.

Cited by 32 publications

References 11 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

Nail dystrophy and oral leukoplakia in a 3‐year‐old girl

Comparative Study of High-Resolution Multifrequency Ultrasound of the Plantar Skin in Patients with Various Types of Hereditary Palmoplantar Keratoderma

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