Erythrokeratoderma variabilis caused by a recessive mutation in GJB3

Fuchs-Telem, Dana; Pessach, Yakov; Mevorah, B.; Shirazi, Idit; Sarig, Ofer; Sprecher, Eli

doi:10.1111/j.1365-2230.2010.03986.x

Cited by 24 publications

(19 citation statements)

References 21 publications

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“…This finding is reminiscent of previous observations (Ciubotaru et al, 2003;Fuchs-Telem et al, 2011;PadalonBrauch et al, 2012) on diverging modes of inheritance of other disorders of cornification, in populations characterized by different rates of consanguinity.…”

supporting

confidence: 68%

Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3

Eytan

Fuchs-Telem

Mevorach

et al. 2014

Journal of Investigative Dermatology

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identified in patients with punctate PPK. Although PPK is a rare disorder, diseases characterized by hyperkeratosis and hyperproliferation are common, and identification of the underlying cellular mechanisms in this familial keratoderma may contribute to our future ability to understand and treat the more prevalent hyperkeratotic diseases. REFERENCESBennion SD, Patterson JW (1984) Keratosis punctata palmaris et plantaris and adenocarcinoma of the colon. A possible familial association of punctate keratoderma and gastrointestinal malignancy. J Am Acad Dermatol 10:587-91 Chamcheu JC, Siddiqui IA, Syed DN et al. (2011) Keratin gene mutations in disorders of human skin and its appendages. Arch Biochem Biophys 508:123-37 Cui H, Gao M, Wang W et al. (2013) Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients. J Invest Dermatol 133:2631-4 Emmert S, Kuster W, Hennies HC et al. (2003) 47 patients in 14 families with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-Brauer. Eur J Dermatol 13: 16-20 Giehl KA, Eckstein GN, Pasternack SM et al. (2012) Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type BuschkeFischer-Brauer. Am J Hum Genet 91:754-9 Kelsell DP, Stevens HP (1999) The palmoplantar keratodermas: much more than palms and soles. Mol Med Today 5:107-13 Kiritsi D, Chmel N, Arnold AW et al. (2013) Novel and recurrent AAGAB mutations: clinical variability and molecular consequences.

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supporting

confidence: 68%

Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3

Eytan

Fuchs-Telem

Mevorach

et al. 2014

Journal of Investigative Dermatology

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“…Erythrokeratodermia variabilis (EKV [MIM 133200]) is a rare, congenital skin disorder characterized by transient figurate patches of erythema on a background of localized or generalized scaling, with palmoplantar keratoderma present in nearly 50% of cases ( Richard, 2000 ). EKV is primarily inherited in an autosomal dominant fashion, though rare autosomal recessive inheritance has been reported ( Fuchs-Telem et al , 2011 ; Gottfried et al , 2002 ), and it shows marked phenotypic heterogeneity, even within kindreds bearing the same disease-causing mutation ( van Steensel et al , 2009 ). The term erythrokeratodermia variabilis et progressiva (EKVP) has been proposed to encompass the diversity of phenotypes, ranging from limited hyperkeratotic plaques and erythematous patches to severe progressive symmetric erythrokeratodermia which can feature more generalized cutaneous involvement ( van Steensel, 2004 ).…”

Section: Introductionmentioning

confidence: 99%

Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia

Boyden

Craiglow

Zhou

et al. 2015

Journal of Investigative Dermatology

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Genetic investigation of inherited skin disorders has informed understanding of skin self-renewal, differentiation, and barrier function. Erythrokeratodermia variabilis et progressiva (EKVP) is a rare, inherited skin disease characterized by transient figurate patches of erythema, localized or generalized scaling, and frequent palmoplantar keratoderma. By employing exome sequencing, we show that de novo missense mutations in GJA1 (gap junction protein alpha 1) cause EKVP. The severe, progressive skin disease in EKVP subjects with GJA1 mutations is distinct from limited cutaneous findings rarely found in the systemic disorder oculodentodigital dysplasia, also caused by dominant GJA1 mutations. GJA1 encodes connexin 43 (Cx43), the most widely expressed gap junction protein. We show that the GJA1 mutations in EKVP subjects lead to disruption of Cx43 membrane localization, and aggregation within the Golgi. These findings reveal a critical role for Cx43 in epidermal homeostasis, and provide evidence of organ-specific pathobiology resulting from different mutations within GJA1.

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“…По данным авторов, наиболее выраженная экспрессия гена GJB2, кодирующего Кс26, наблюдалась в коже больных псориазом по сравнению со здоровыми. В другом исследовании [40] также обнаружена высокая экспрессия гена GJB6, кодирующего Кс30, в биоптате кожи пациентов с псориазом по сравнению с нормальной кожей здоровых, а остальные белки-коннексины не были модифицированы уже на транскриптном уровне. Несмотря на многочисленные исследования, точная причина выраженной экспрессии Кс26 при псориатических поражениях и его роль в функциях эпидермального барьера остаются нерешенными.…”

Section: коннексин 26 при псориазеunclassified

Role of intercellular slit-like contacts (connexins) in the pathogenesis of erythroderma

et al. 2018

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Erythroderma is a skin lesion characterized by redness, swelling, infiltration, and desquamation of greater than 90% of the skin. The etiology of erythroderma is not completely clear and the lesion can be manifestations of various chronic dermatoses, including atopic dermatitis, psoriasis, eczema, and toxicodermia, and be represented by erythrodermic mycosis fungoides. The pathogenesis of erythroderma especially at the genetic level remains little studied. Thus, one disease (erythroderma) can be a manifestation of different dermatoses and have similar clinical and histological signs. This paper gives a review of modern literature on the study of erythroderma in terms of morphology and genetic aspects.

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Erythrokeratoderma variabilis caused by a recessive mutation in GJB3

Abstract: Autosomal recessive inheritance should be considered when providing genetic counselling to consanguineous families at risk for EKV.

Cited by 24 publications

References 21 publications

Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3

Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3

Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia

Role of intercellular slit-like contacts (connexins) in the pathogenesis of erythroderma

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