Erythrokeratoderma en cocardes

Rajagopalan,; Pulimood,; George, .; Jacob, .

doi:10.1046/j.1365-2230.1999.00446.x

Cited by 10 publications

(8 citation statements)

References 9 publications

(16 reference statements)

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“…One potential mechanism is that cell death promotes inflammation that produces cell growth-prone cytokines. Consistent with this hypothesis, inflammation is often detected in the disease tissues of EKV patients [17], [38]–[40].…”

Section: Discussionsupporting

confidence: 57%

Pathogenic Connexin-31 Forms Constitutively Active Hemichannels to Promote Necrotic Cell Death

Chi

Liu

et al. 2012

PLoS ONE

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Mutations in Connexin-31 (Cx31) are associated with multiple human diseases including erythrokeratodermia variabilis (EKV). The molecular action of Cx31 pathogenic mutants remains largely elusive. We report here that expression of EKV pathogenic mutant Cx31R42P induces cell death with necrotic characteristics. Inhibition of hemichannel activity by a connexin hemichannel inhibitor or high extracellular calcium suppresses Cx31R42P-induced cell death. Expression of Cx31R42P induces ER stress resulting in reactive oxygen species (ROS) production, in turn, to regulate gating of Cx31R42P hemichannels and Cx31R42P induced cell death. Moreover, Cx31R42P hemichannels play an important role in mediating ATP release from the cell. In contrast, no hemichannel activity was detected with cells expressing wildtype Cx31. Together, the results suggest that Cx31R42P forms constitutively active hemichannels to promote necrotic cell death. The Cx31R42P active hemichannels are likely resulted by an ER stress mediated ROS overproduction. The study identifies a mechanism of EKV pathogenesis induced by a Cx31 mutant and provides a new avenue for potential treatment strategy of the disease.

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Section: Discussionsupporting

confidence: 57%

Pathogenic Connexin-31 Forms Constitutively Active Hemichannels to Promote Necrotic Cell Death

Chi

Liu

et al. 2012

PLoS ONE

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“…Other rarer EKV variants described include erythroderma en cocardes, also known as Degos' disease (Rajagopalan et al, 1999), reticulate erythrokeratoderma (Itin et al, 2003), EKV with erythema gyratum repens-like lesions . Saba et al (2005) recently described EKV-like lesions, ichthyosis, sensorineural hearing loss, peripheral neuropathy, psychomotor retardation, congenital chronic diarrhea, and an elevation of very long chain fatty acids in a French-Canadian pedigree, mapping to chromosome 7q22, a region containing connexin (Cx)31.1.…”

mentioning

confidence: 99%

Clinical and Genetic Heterogeneity of Erythrokeratoderma Variabilis

Common

O’Toole

Leigh

et al. 2005

Journal of Investigative Dermatology

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The skin disease erythrokeratoderma variabilis (EKV) has been shown to be associated with mutations in GJB3 and GJB4 encoding connexin (Cx)31 and Cx30.3, respectively. Gap junctions composed of Cx proteins are intracellular channels providing a mechanism of synchronized cellular response facilitating metabolic and electronic functions of the cell. In the skin, Cx31 and Cx30.3 are expressed in the stratum granulosum of the epidermis with a suggested role in late keratinocyte differentiation. Molecular investigations of GJB3 and GJB4 were performed in five pedigrees and three sporadic cases of EKV. Mutational analyzes revealed disease-associated Cx31 or Cx30.3 mutations in only three probands of which two were novel mutations and one was a recurrent mutation. These genetic studies further demonstrate the heterogeneous nature of the erythrokeratodermas as not all individuals that were clinically diagnosed with EKV harbor Cx31 or Cx30.3 mutations.

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“…There are two probable subtypes of EKV that have been summarized (5), one is the erythrokeratoderma witb erythema gyratum repens-like lesions (1), the other is erythrokeratoderma en cocardes, which has target-like lesions (12). In this Chinese EKV pedigree, we recorded unusual pustule-like lesions in five of the 19 examined metnbers, with compatible histological and EM findings.…”

Section: Discussionmentioning

confidence: 65%

Familial Erythrokeratodermia Variabilis with Pustular Lesions: A New Variant?

Zhang

Huo²,

Gao³

et al. 2010

Acta Derm Venerol

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We report here a Chinese family with erythrokeratodermia variabilis which had 30 affected members. The patients had characteristic clinical features of stationary and migratory lesions. Some of the patients had adult onset of the disease. Five out of 30 patients noted episodes of pustule-like lesions during their disease course. Histological examination of the proband showed granular cell vacuolation and upper-epidermal neutrophil aggregates. Mitochondria vacuolation was noted in keratinocytes by electron microscopic examination. No GJB3 and GJB4 pathogenic mutation was detected. These unusual presentations suggested a new phenotypic and genetic correlation in this Chinese pedigree of erythrokeratodermia variabilis.

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Erythrokeratoderma en cocardes

Cited by 10 publications

References 9 publications

Pathogenic Connexin-31 Forms Constitutively Active Hemichannels to Promote Necrotic Cell Death

Pathogenic Connexin-31 Forms Constitutively Active Hemichannels to Promote Necrotic Cell Death

Clinical and Genetic Heterogeneity of Erythrokeratoderma Variabilis

Familial Erythrokeratodermia Variabilis with Pustular Lesions: A New Variant?

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