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

O'Kane, Anna M; Jackson, Conor; Mahadevan, Murali; Barber, Colin

doi:10.1017/s0022215116008264

Cited by 7 publications

(9 citation statements)

References 12 publications

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“…These solutions may prevent severe feeding problems, failure to thrive and unnecessary hospitalizations with medical interventions and feeding tubes, which seem to exacerbate the condition. Periodic examination and follow‐up are crucial in order to detect breathing difficulties and to treat rare cases of upper airway obstruction …”

Section: Discussionmentioning

confidence: 99%

“…Periodic examination and follow-up are crucial in order to detect breathing difficulties and to treat rare cases of upper airway obstruction. 22 In conclusion, there is a need for a clear message that babies with suspected candidiasis should be examined for nail changes (e.g. thickening) and a diagnosis of PC considered, particularly if treatment for candidiasis has been unsuccessful.…”

Section: Discussionmentioning

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: Discussionmentioning

confidence: 99%

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

et al. 2019

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“…Investigating the pathophysiology of laryngeal TB unveils the intricate interplay of the immune system's reactions. Inhaling Mycobacterium tuberculosis causes an inflammatory cascade that results in vocal cord swelling, ulceration, and eventual paralysis [ 3 , 11 , 12 ]. The addition of mediastinal lymphadenopathy adds another layer of complexity, potentially jeopardizing critical structures including the recurrent laryngeal nerve and the cricoarytenoid joint.…”

Section: Discussionmentioning

confidence: 99%

Navigating the Complexities of Laryngeal Tuberculosis: A Comprehensive Case Report and Literature Review

Gautam,

Kumar,

Gapizov

et al. 2023

Cureus

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This case report and literature review presents a detailed exploration of the diagnosis and management of laryngeal tuberculosis, emphasizing the challenges encountered in dealing with rare and multifaceted medical conditions. Through a systematic analysis of the patient's clinical journey and an insightful review of pertinent literature, the study underscores the complexity inherent in diagnosing primary laryngeal tuberculosis and highlights the growing relevance of this rare extrapulmonary manifestation. The case showcases the significance of a comprehensive diagnostic approach, the collaboration of diverse medical specialists, adherence to established treatment guidelines, and the crucial role of continuous patient monitoring. The successful resolution of this intricate case serves as a compelling testament to the power of interdisciplinary coordination and precision medicine, providing valuable insights into navigating the intricate landscape of laryngeal tuberculosis.

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“…The nails reach their full length, but they often show dorsal deflection relative to the nail bed due to distal hyperkeratosis, or their growth is prematurely terminated, with partial exposure of the phalanx. Hyperkeratotic lesions (keratoderma) and pain occur during crawling or walking attempts, causing difficulty in moving about and impeding normal development (42,43) . Additionally, areas of excessive keratosis involving oral mucosa, keratosis pilaris (especially on the elbows and knees), excess sweating (hands and feet), and, rarely, the so-called natal teeth, may also occur.…”

Section: Pachyonychia Congenitamentioning

confidence: 99%

A review of practical issues related to the diseases of the nail unit useful for doctors (including non-dermatologists)

Jaworek¹,

Jaworek²,

Zalewski³

et al. 2020

Pediatr Med Rodz

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The human nail unit is a highly specialised, keratinised structure belonging to the group of skin appendages. It performs many important functions necessary to maintain homeostasis, such as protection of the distal phalanx against damages or stabilisation of the fingertips. Human nail unit is formed by the nail plate and the proximal nail fold, lateral nail folds, nail matrix, nail bed and hyponychium. Human nail unit diseases are often diagnosed with delay, mainly due to anatomical conditions, but also due to understating the problem not only by the patients themselves, but also by doctors. Changes within the human nail unit are a frequent component of many dermatoses or separate disease entities. The main disturbances associated with pathologies within the nail matrix include the Beau lines (transverse pits indicating temporary disruption of the nail plate growth), onychomadesis (nail shedding), onychorrhexis, nail pitting, koilonychia (spoon nails) or trachonychia (sandpapered nails). The group of diseases associated with disorders of the nail bed includes onycholysis (loss of communication between the nail plate and the nail bed), subungual hyperkeratosis, apparent leukonychia (associated with the swelling of the nail bed) and subungual petechiae. The article also presents selected nail diseases associated with the deposition of dye (including melanonychia), some congenital disorders of the nail unit (such as, for example, malalignment of the great toenail or nail-patella syndrome) and selected manifestations of systemic diseases within the human nail unit. Getting familiar with the correct onychological nomenclature and presented issues will certainly facilitate establishing a dialogue between specialists in skin diseases and general practitioners. Keywords: human nail unit, nail matrix diseases, disorders within the nail bed, congenital nail disorders Aparat paznokciowy (narząd paznokciowy) to wysoce wyspecjalizowana, skeratynizowana struktura należąca do grupy przydatków skóry. Pełni on wiele istotnych funkcji niezbędnych do utrzymania homeostazy, takich jak ochrona paliczka dystalnego przed uszkodzeniami czy stabilizacja opuszek palców. Aparat paznokciowy tworzą płytka paznokciowa oraz proksymalny wał paznokciowy i wały boczne, macierz paznokcia, łożysko paznokcia i obrąbek (hyponychium). Schorzenia aparatu paznokciowego rozpoznawane są nierzadko z opóźnieniem, przede wszystkim ze względu na warunki anatomiczne, lecz również z powodu bagatelizowania problemu nie tylko przez samych pacjentów, ale także przez lekarzy. Zmiany w obrębie aparatu paznokciowego są częstym elementem składowym wielu dermatoz lub stanowią osobne jednostki chorobowe. Do głównych zaburzeń związanych z patologiami w obrębie macierzy paznokcia należą linie Beau (poprzeczne zagłębienia świadczące o chwilowym zaburzeniu wzrostu płytki paznokciowej), onychomadeza (spełzanie płytek paznokciowych), onychorrhexis, nail pitting (paznokcie dziurkowane), koilonychia (paznokcie łyżeczkowate) czy trachonychia (szorstkość paznokci). W grupie zabur...

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

Cited by 7 publications

References 12 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

Navigating the Complexities of Laryngeal Tuberculosis: A Comprehensive Case Report and Literature Review

A review of practical issues related to the diseases of the nail unit useful for doctors (including non-dermatologists)

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