Peeling skin diseases: 21 cases from Turkey and a review of the literature

Köse, Osman; Safali, Mkerrem; Koç, Emrah; Arca, Ercan; Açıkgöz, Gürol; Özmen, İbrahim; Yeniay, Yıldıray

doi:10.1111/j.1468-3083.2011.04166.x

Cited by 14 publications

(23 citation statements)

References 25 publications

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“…Peeling skin syndrome (PSS) refers to a complex group of autosomal recessive disorders of cornification featuring superficial detachment of the epidermal cornified cell layers with no mucosal fragility (Kose et al, 2012; Levy and Goldsmith, 1982). …”

Section: Introductionmentioning

confidence: 99%

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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: Introductionmentioning

confidence: 99%

“…Generalized PSS is further subdivided into a noninflammatory (type A) form and an inflammatory (type B) form. This latter type also features itching, atopic diathesis, allergic reactions, and failure to thrive (Kose et al, 2012). …”

Section: Introductionmentioning

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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“…It is classified into localized and generalized forms. The generalized form is further subclassified into non‐inflammatory (type A) and inflammatory forms (type B) . Recently, the genetic defects underlying some of these types of PSS were elucidated when mutations in the CHST8 and CDSN genes were found in PSS type A and B, respectively .…”

Section: Introductionmentioning

confidence: 99%

Novel TGM5 mutations in acral peeling skin syndrome

Velden

Geel

Nellen

et al. 2015

Experimental Dermatology

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Acral peeling skin syndrome (APSS, MIM #609796) is a rare autosomal recessive disorder characterized by superficial exfoliation and blistering of the volar and dorsal aspects of hands and feet. The level of separation is at the junction of the stratum granulosum and stratum corneum. APSS is caused by mutations in the TGM5 gene encoding transglutaminase-5, which is important for structural integrity of the outermost epidermal layers. The majority of patients originate from Europe and carry a p.(Gly113Cys) mutation in TGM5. In this study, we report both European and non-European families carrying other mutations in the TGM5 gene. In 5 patients, we found 3 novel mutations: c.1001+2_1001+3del, c.1171G>A and c.1498C>T. To confirm their pathogenicity, we performed functional analyses with a transglutaminase activity assay, determined alternative splicing by reverse-transcribed PCR analysis and used databases and in silico prediction tools.

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“…A third form of facial peeling syndrome has also been reported [1]. Generalized PSS can be further divided into the non-inflammatory (type A) and the inflammatory (type B) forms [2]. …”

Section: Introductionmentioning

confidence: 99%

“…This condition can present at birth or appear in early childhood [2,5]. PSS can be distinguished histologically from the different types of epidermolysis bullosa, in which blistering occurs within or below the basal layer of the epidermis [6,7], in contrast to the blistering high in the epidermis, at the stratum granulosum–corneum junction, seen in PSS.…”

Section: Introductionmentioning

confidence: 99%

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome

et al. 2012

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Generalized peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by lifelong, continuous shedding of the upper epidermis. Using whole-genome homozygozity mapping and whole-exome sequencing, we identified a novel homozygous missense mutation (c.229C>T, R77W) within the CHST8 gene, in a large consanguineous family with non-inflammatory PSS type A. CHST8 encodes a Golgi transmembrane N-acetylgalactosamine-4-O-sulfotransferase (GalNAc4-ST1), which we show by immunofluorescence staining to be expressed throughout normal epidermis. A colorimetric assay for total sulfated glycosaminoglycan (GAG) quantification, comparing human keratinocytes (CCD1106 KERTr) expressing wild type and mutant recombinant GalNAc4-ST1, revealed decreased levels of total sulfated GAGs in cells expressing mutant GalNAc4-ST1, suggesting loss of function. Western blotting revealed lower expression levels of mutant recombinant GalNAc4-ST1 compared to wild type, suggesting that accelerated degradation may result in loss of function, leading to PSS type A. This is the first report describing a mutation as the cause of PSS type A.

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Peeling skin diseases: 21 cases from Turkey and a review of the literature

Abstract: In this case series, PSD occurred rarely and also showed generally mild course of disease in Turkey and most likely related to consanguineous of marriages. Future investigations on PSD will contribute to our progressing alternative targets for pathogenesis-based therapy.

Cited by 14 publications

References 25 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

Novel TGM5 mutations in acral peeling skin syndrome

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome

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