KID syndrome: histopathological, immunohistochemical and molecular analysis of precancerous and cancerous skin lesions

Bergman, Reuven; Mercer, Andrew A.; Indelman, Margarita; Sprecher, Eli; Haim, Nissim; Zoller, Lilach; Ben‐Izhak, Ofer; Hershkovitz, Dov

doi:10.1111/j.1365-2133.2011.10577.x

Cited by 9 publications

(4 citation statements)

References 9 publications

(11 reference statements)

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“…HPV manifests itself in basal keratinocytes where it remains latent and is triggered to undergo replication upon keratinocyte differentiation, inducing changes in the epidermis resulting in cutaneous wart formation [128]. Interestingly, KID syndrome patients are not more prone to HPV infection than ‘normal’ individuals [59], despite the evidence that they are more susceptible to bacterial infections and squamous cell carcinoma.…”

Section: Connexins the Skin Microflora And Innate Immunitymentioning

confidence: 99%

“…KID syndrome, a rare ectodermal dysplasia with about 100 reports to date, is the severest connexin‐related skin disorder and is characterised by sensorineural hearing loss, hyperkeratosis of the palms and soles, erytherokeratoderma on the extremities and face, follicular hyperkeratosis, photophobia and corneal vascularisation that ultimately leads to blindness. Patients are also more prone to Gram positive bacterial and fungal skin infections (see below) and many have a predisposition to squamous cell carcinoma (examples of case reports include [53–59]). The causative Cx26 mutations for KID syndrome map to the N‐terminus (G12R, N14K, S17F), the proximal E1 domain (A40V, G45E, D50N, D50Y, D50A) and there is one report in the second transmembrane domain (A88V) of the Cx26 protein (reviewed by [12,13]).…”

Section: ‘Gain Of Function’ Mutations and Epidermal Integritymentioning

confidence: 99%

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Connexins: Sensors of epidermal integrity that are therapeutic targets

et al. 2014

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a b s t r a c tGap junction proteins (connexins) are differentially expressed throughout the multiple layers of the epidermis. A variety of skin conditions arise with aberrant connexin expression or function and suggest that maintaining the epidermal gap junction network has many important roles in preserving epidermal integrity and homeostasis. Mutations in a number of connexins lead to epidermal dysplasias giving rise to a range of dermatological disorders of differing severity. 'Gain of function' mutations reveal connexin-mediated roles in calcium signalling within the epidermis. Connexins are involved in epidermal innate immunity, inflammation control and in wound repair. The therapeutic potential of targeting connexins to improve wound healing responses is now clear. This review discusses the role of connexins in epidermal integrity, and examines the emerging evidence that connexins act as epidermal sensors to a variety of mechanical, temperature, pathogen-induced and chemical stimuli. Connexins thus act as an integral component of the skin's protective barrier. Ó 2014 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved. OverviewThe mammalian epidermis forms a resilient, water-impermeable barrier that protects internal organs from the external environment. This highly differentiated, stratified structure consists of basal, spinous, granular and cornified keratinocyte layers that are characterised by the differential expression of keratins and a range of cell-to-cell adhesion and junctional proteins, including the connexins (Fig. 1) [1]. This barrier provides an interface with the external environment, the surface of which is colonised by a diverse array of microorganisms that exist in specialised topographical niches, with a fine balance between commensal and potentially opportunistic pathogenic organisms [2]. Disruption in the balance of this host-microbe interaction can result in skin disorders and infection [3]. In recent years, observed changes in connexin expression and signalling in a number of epidermal conditions have indicated a central role for connexin-mediated events in maintaining the integrity of this tissue. This review focuses on recent evidence supporting the concept that the epidermal connexin network plays a central role in sensing and maintaining epidermal integrity, and that connexins are emerging as prime therapeutic targets for a diverse range of epidermal conditions. Connexins and the epidermisConnexins are a family of highly conserved transmembrane proteins that assemble to form connexon hemichannels in the cell plasma membrane. Under 'normal' conditions these channels are closed, however they can be triggered to open under environmental stress conditions, providing a conduit between the intra-and extra-cellular environments. Ultimately, connexons align and dock with connexons from neighbouring cells to form dodecameric gap junction channels, which facilitate the direct exchange of inorganic ions, small metabolites and cellular messenger mole...

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Section: Connexins the Skin Microflora And Innate Immunitymentioning

confidence: 99%

Section: ‘Gain Of Function’ Mutations and Epidermal Integritymentioning

confidence: 99%

Connexins: Sensors of epidermal integrity that are therapeutic targets

et al. 2014

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“…Additional features are corneal epithelial defects, including scarring and neo-vascularization that can result in progressive decline of visual acuity and may eventually lead to blindness. It has been described that KID syndrome is associated with an increased susceptibility for squamous cell carcinomas of tongue and skin in at least 10 % of patients, apparently due to p53 loss in the lesions [ 4 – 7 ].…”

Section: Introductionmentioning

confidence: 99%

Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report

et al. 2016

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BackgroundKeratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineural deafness with skin hyperkeratinization. The primary cause of the disease is a loss-of-function mutation in the GJB2 gene. Mutations in Argentinean patients have not been described.Case presentationWe studied a 2 year-old boy with bilateral congenital sensorineural deafness with dry skin over the entire body, hypotrichosis of the scalp, thin and light-blond hair. Analysis of the GJB2 gene nucleotide sequence revealed the substitution of guanine-148 by adenine predicted to result in an Asp50Asn amino acid substitution.ConclusionThis is the first KID report in a patient from Argentina. This de novo mutation proved to be the cause of keratitis-ichthyosis-deafness syndrome (KID-syndrome) in the patient, and has implications in medical genetic practice.

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“…Клинически это проявляется характерными симптомами заболевания, включающими эритрокератодермию, ладонно-подошвенный гиперкератоз, рубцовую алопецию, тяжелую сенсорную тугоухость, а также (не всегда) дефекты роговицы с рубцеванием и неоангиогенезом, приводящие к слепоте [2,10]. Кроме того, у больных с KID-синдро-мом имеется повышенный риск плоскоклеточного рака [11], а также бактериальных и грибковых инфекций [12]. В экспериментальных исследованиях было показано, что представитель нормальной микрофлоры Staphylococcus epi dermidis способен вступать во взаимодействие с кератиноцитами и провоцировать выброс биологически активных веществ, селективно подавляющих рост оппортунистической флоры (S. aureus, Streptococcus spp.)…”

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Oral manifestations of KID syndrome: rare clinical case

Korolenkova

Дмитриева

Бабиченко

et al. 2019

Stomat.

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Центральный научно-исследовательский институт стоматологии и челюстно-лицевой хирургии, Москва, Россия В статье описан редчайший клинический случай четырехлетней девочки с KIDсиндромом (в мире зарегистрировано менее 100 случаев), направленной для верификации природы очагов поражения на слизистой оболочке рта. Патогенез синдрома предполагает нарушение процессов репарации и естественной иммунной защиты кожи и слизистой оболочки, что выра жается частыми бактериальными и грибковыми инфекциями, поэтому очаги на слизистой были приняты за проявления кандидозного стоматита, от которого ребенок безрезультатно получал лечение в течение нескольких недель. При обра щении выявлено, что поражение слизистой оболочки рта является следствием неполноценной репарации на фоне хрони ческой травмы острыми краями разрушенных зубов. Гистологическое заключение мультифокальной биопсии: пиоген ные гранулемы. После санации рта и симптоматического лечения состояние слизистой и общее состояние ребенка зна чительно улучшились, а сохранившиеся умеренно выраженные изменения слизистой, по всей вероятности, являются проявлениями основного заболевания. Ключевые слова: KID-синдром, слизистая оболочка, микрофлора слизистой рта, гистологическое исследование.

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KID syndrome: histopathological, immunohistochemical and molecular analysis of precancerous and cancerous skin lesions

Cited by 9 publications

References 9 publications

Connexins: Sensors of epidermal integrity that are therapeutic targets

Connexins: Sensors of epidermal integrity that are therapeutic targets

Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report

Oral manifestations of KID syndrome: rare clinical case

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