Inflammatory peeling skin syndrome caused a novel mutation in CDSN

Telem, Dana Fuchs; Israeli, Shirli; Sarig, Ofer; Sprecher, Eli

doi:10.1007/s00403-011-1195-z

Cited by 29 publications

(23 citation statements)

References 21 publications

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“…Filaggrin 2 and CDSN have been shown to be expressed in the stratum granulosum and stratum corneum (Telem et al, 2012; Wu et al, 2009). Microscopical analysis of normal skin biopsies and cultured keratinocytes revealed colocalization of filaggrin 2 and CDSN in both cases (Figure 3c and d, Supplementary Figure S7 Supplementary).…”

Section: Mutational Analysismentioning

confidence: 99%

Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A

Mohamad

Sarig

Godsel

et al. 2018

Journal of Investigative Dermatology

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Peeling skin syndromes form a large and heterogeneous group of inherited disorders characterized by superficial detachment of the epidermal cornified cell layers, often associated with inflammatory features. Here we report on a consanguineous family featuring noninflammatory peeling of the skin exacerbated by exposure to heat and mechanical stress. Whole exome sequencing revealed a homozygous nonsense mutation in FLG2, encoding filaggrin 2, which cosegregated with the disease phenotype in the family. The mutation was found to result in decreased FLG2 RNA levels as well as almost total absence of filaggrin 2 in the patient epidermis. Filaggrin 2 was found to be expressed throughout the cornified cell layers and to colocalize with corneodesmosin that plays a crucial role in maintaining cell-cell adhesion in this region of the epidermis. The absence of filaggrin 2 in the patient skin was associated with markedly decreased corneodesmosin expression, which may contribute to the peeling phenotype displayed by the patients. Accordingly, using the dispase dissociation assay, we showed that FLG2 downregulation interferes with keratinocyte cell-cell adhesion. Of particular interest, this effect was aggravated by temperature elevation, consistent with the clinical phenotype. Restoration of corneodesmosin levels by ectopic expression rescued cell-cell adhesion. Taken together, the present data suggest that filaggrin 2 is essential for normal cell-cell adhesion in the cornified cell layers.

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Section: Mutational Analysismentioning

confidence: 99%

Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A

Mohamad

Sarig

Godsel

et al. 2018

Journal of Investigative Dermatology

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“…PSS type B is caused by small-scale mutations in CDSN encoding corneodesmosin, a component of corneodesmosomes, resulting in premature termination codons (1)(2)(3)(4)(5). In this study, we report for the first time a Japanese case resulting from complete deletion of the CDSN locus.…”

Section: Introductionmentioning

confidence: 86%

“…Material and methods. Allergen-specific immunotherapy (ASIT) is currently used for allergic disorders including allergic rhinitis and atopic dermatitis (4). The number of circulating Tr1 is decreased in patients with allergic rhinitis, but recovered to normal levels after successful ASIT (5,6).…”

Section: Supporting Informationmentioning

confidence: 99%

Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene

Ishida‐Yamamoto

Furio

Igawa

et al. 2013

Experimental Dermatology

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Peeling skin syndrome (PSS) type B is a rare recessive genodermatosis characterized by lifelong widespread, reddish peeling of the skin with pruritus. The disease is caused by smallscale mutations in the Corneodesmosin gene (CDSN) leading to premature termination codons. We report for the first time a Japanese case resulting from complete deletion of CDSN. Corneodesmosin was undetectable in the epidermis, and CDSN was unamplifiable by PCR. QMPSF analysis demonstrated deletion of CDSN exons inherited from each parent. Deletion mapping using microsatellite haplotyping, CGH array and PCR analysis established that the genomic deletion spanned 49-72 kb between HCG22 and TCF19, removing CDSN as well as five other genes within the psoriasis susceptibility region 1 (PSORS1) on 6p21.33. This observation widens the spectrum of molecular defects underlying PSS type B and shows that loss of these five genes from the PSORS1 region does not result in an additional cutaneous phenotype.

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“…kallikrein) degradujących CDSN. Brak aktywności SPINK5 powoduje przedwczesną degradację CDSN w górnych warstwach warstwy rogowej naskórka [21], natomiast brak CDSN osłabia adhezję komórek w górnych warstwach naskórka, co prowokuje nadmierną reakcję układu immunologicznego w postaci niekontrolowanego stanu zapalnego [2,22]. Dodatkowo u pacjentów z PSS-B wykryto zwiększoną zawartość różnego typu kallikrein degradujących m.in.…”

Section: Omówienieunclassified

Rarely occurring genodermatosis (acral peeling skin syndrome) – case report. Literature review of localized and generalized variants

Kowalska¹,

Wertheim–Tysarowska²,

Kowalik³

et al. 2015

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Inflammatory peeling skin syndrome caused a novel mutation in CDSN

Cited by 29 publications

References 21 publications

Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A

Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A

Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene

Rarely occurring genodermatosis (acral peeling skin syndrome) – case report. Literature review of localized and generalized variants

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