Presentation is loading. Please wait.

Presentation is loading. Please wait.

Acral Peeling Skin Syndrome with TGM5 Gene Mutations May Resemble Epidermolysis Bullosa Simplex in Young Individuals  Dimitra Kiritsi, Ioana Cosgarea,

Published byIlona Doležalová Modified over 6 years ago

Similar presentations

Presentation on theme: "Acral Peeling Skin Syndrome with TGM5 Gene Mutations May Resemble Epidermolysis Bullosa Simplex in Young Individuals  Dimitra Kiritsi, Ioana Cosgarea,"— Presentation transcript:

1 Acral Peeling Skin Syndrome with TGM5 Gene Mutations May Resemble Epidermolysis Bullosa Simplex in Young Individuals  Dimitra Kiritsi, Ioana Cosgarea, Claus-Werner Franzke, Hauke Schumann, Vinzenz Oji, Jürgen Kohlhase, Leena Bruckner-Tuderman, Cristina Has  Journal of Investigative Dermatology  Volume 130, Issue 6, Pages (June 2010) DOI: /jid Copyright © 2010 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Similar clinical features in APSS and localized EBS in young children. (a) Blisters (black arrows) and erosions (white arrows) on the palms and soles of the 2-year-old patient 8 with APSS, and (b) of a 2-year-old patient with localized EBS heterozygous for the keratin 14 mutation, p.Leu143Pro. Note the similarity of the superficial erosions and flat blisters. (c) Peeling on the dorsal aspects of the feet and discrete peeling and residual erythema on the elbows of 47-year-old patient 4. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2010 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Morphological analysis of APSS skin. Immunofluorescence staining of (a) control skin from the sole, (b) skin of patient 3 from the sole, (c) control skin from the trunk, and (d) skin of patient 1 from the trunk, with antibodies to TGase 5, TGase 1, TGase 3, loricrin, filaggrin, and involucrin. The insets represent twofold magnifications of the marked areas. Note the altered staining of TGase 5, and the more diffuse distribution of TGase 1, loricrin, filaggrin, and involucrin in APSS skin compared to control skin. The weak loricrin staining in the basal epidermis is likely to represent nonspecific staining. Bar=100μm. (e) The TGM5 mutation c.763T>C, p.Trp255Arg. A segment of the wild-type sequence of TGM5 exon 6 is shown in the left panel, whereas the right panel shows the heterozygous mutation c.763T>C, p.Trp255Arg found in patient 1. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2010 The Society for Investigative Dermatology, Inc Terms and Conditions

Download ppt "Acral Peeling Skin Syndrome with TGM5 Gene Mutations May Resemble Epidermolysis Bullosa Simplex in Young Individuals  Dimitra Kiritsi, Ioana Cosgarea,"

Similar presentations

Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy 

Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy 
The Missense Mutation p

The Missense Mutation p
Cristina Has, Yinghong He  Journal of Investigative Dermatology 

Cristina Has, Yinghong He  Journal of Investigative Dermatology 
A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.

A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.
Use of Induced Pluripotent Stem Cells in Dermatological Research

Use of Induced Pluripotent Stem Cells in Dermatological Research
Transient Bullous Dermolysis of the Newborn Associated with Compound Heterozygosity for Recessive and Dominant COL7A1 Mutations  Nadja Hammami-Hauasli,

Transient Bullous Dermolysis of the Newborn Associated with Compound Heterozygosity for Recessive and Dominant COL7A1 Mutations  Nadja Hammami-Hauasli,
Next-Generation Sequencing: Methodology and Application

Next-Generation Sequencing: Methodology and Application
Leena Bruckner-Tuderman, Cristina Has 

Leena Bruckner-Tuderman, Cristina Has 
Enhanced Proteolytic Activities in Acral Peeling Skin Syndrome: A Role of Transglutaminase 5 in Epidermal Homeostasis  Georgios Pampalakis, Dimitra Kiritsi,

Enhanced Proteolytic Activities in Acral Peeling Skin Syndrome: A Role of Transglutaminase 5 in Epidermal Homeostasis  Georgios Pampalakis, Dimitra Kiritsi,
Severe Palmo-Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14)  Carrie S. Shemanko 

Severe Palmo-Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14)  Carrie S. Shemanko 
Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto 

Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto 
Natural Gene Therapy May Occur in All Patients with Generalized Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutations  Anna M.G. Pasmooij,

Natural Gene Therapy May Occur in All Patients with Generalized Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutations  Anna M.G. Pasmooij,
Clinical Snippets Journal of Investigative Dermatology

Clinical Snippets Journal of Investigative Dermatology
Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy 

Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy 
Mild Recessive Bullous Congenital Ichthyosiform Erythroderma due to a Previously Unidentified Homozygous Keratin 10 Nonsense Mutation  Akiko Tsubota,

Mild Recessive Bullous Congenital Ichthyosiform Erythroderma due to a Previously Unidentified Homozygous Keratin 10 Nonsense Mutation  Akiko Tsubota,
Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria

Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
TGM5 Mutations Impact Epidermal Differentiation in Acral Peeling Skin Syndrome  Manuela Pigors, Dimitra Kiritsi, Cristina Cobzaru, Agnes Schwieger-Briel,

TGM5 Mutations Impact Epidermal Differentiation in Acral Peeling Skin Syndrome  Manuela Pigors, Dimitra Kiritsi, Cristina Cobzaru, Agnes Schwieger-Briel,
Novel SLC39A4 Mutations in Acrodermatitis Enteropathica

Novel SLC39A4 Mutations in Acrodermatitis Enteropathica
Databases for Clinical Research

Databases for Clinical Research
Novel Homozygous and Compound Heterozygous COL17A1 Mutations Associated with Junctional Epidermolysis Bullosa  Michaela Floeth, Heike Schäcke, Nadja Hammami-Hauasli,

Novel Homozygous and Compound Heterozygous COL17A1 Mutations Associated with Junctional Epidermolysis Bullosa  Michaela Floeth, Heike Schäcke, Nadja Hammami-Hauasli,

Similar presentations

Ads by Google