Abnormal Cornified Cell Envelope Formation in Mutilating Palmoplantar Keratoderma Unrelated to Epidermal Differentiation Complex Masashi Akiyama, Angela.

Slides:

Advertisements

Similar presentations

Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation Rinko Osawa, MD, Masashi.

Advertisements

Keratin 9 Is Required for the Structural Integrity and Terminal Differentiation of the Palmoplantar Epidermis Dun Jack Fu, Calum Thomson, Declan P. Lunny,

Fibroblast Activation Protein: Differential Expression and Serine Protease Activity in Reactive Stromal Fibroblasts of Melanocytic Skin Tumors Margit.

No Evidence of Apoptotic Cells in Pemphigus Acantholysis

Transient Bullous Dermolysis of the Newborn Associated with Compound Heterozygosity for Recessive and Dominant COL7A1 Mutations Nadja Hammami-Hauasli,

Corneodesmosomal Cadherins Are Preferential Targets of Stratum Corneum Trypsin- and Chymotrypsin-like Hyperactivity in Netherton Syndrome Pascal Descargues,

Reevaluation of the Normal Epidermal Calcium Gradient, and Analysis of Calcium Levels and ATP Receptors in Hailey–Hailey and Darier Epidermis Pekka T.

A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline Michihiro Kono,

Overexpression of Serpin Squamous Cell Carcinoma Antigens in Psoriatic Skin Atsushi Takeda, Dousei Higuchi, Tadahito Takahashi, Masashi Ogo, Peter Baciu,

Genomic Amplification of the Human Plakophilin 1 Gene and Detection of a New Mutation in Ectodermal Dysplasia/Skin Fragility Syndrome Neil V. Whittock,

Effect of Prolactin-Induced Protein on Human Skin: New Insight into the Digestive Action of This Aspartic Peptidase on the Stratum Corneum and Its Induction.

Ellen A. Rorke, Gautam Adhikary, Christina A. Young, Dennis R

Lack of the Vitamin D Receptor is Associated with Reduced Epidermal Differentiation and Hair Follicle Growth Zhongjion Xie, László Komuves, Qian-Chun.

Christina A. Young, Richard L

Marie-Thérèse Leccia Journal of Investigative Dermatology

Mild Recessive Bullous Congenital Ichthyosiform Erythroderma due to a Previously Unidentified Homozygous Keratin 10 Nonsense Mutation Akiko Tsubota,

Smaller Desmosomes Are Seen in the Skin of Pemphigus Patients with Anti-Desmoglein 1 Antibodies but Not in Patients with Anti-Desmoglein 3 Antibodies

Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1 Shotaro Suzuki, Toshifumi Nomura, Toshinari Miyauchi, Masae Takeda,

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

Subcutaneous Adipocytes Promote the Differentiation of Squamous Cell Carcinoma Cell Line (DJM-1) in Collagen Gel Matrix Culture Takuya Inoue, Shuji Toda,

Normalization of Epidermal Calcium Distribution Profile in Reconstructed Human Epidermis Is Related to Improvement of Terminal Differentiation and Stratum.

Fate and Plasticity of the Epidermis in Response to Congenital Activation of BRAF Suguna R. Krishnaswami, Shantanu Kumar, Phillip Ordoukhanian, Benjamin.

Barrier Function in Transgenic Mice Overexpressing K16, Involucrin, and Filaggrin in the Suprabasal Epidermis Richard B. Presland, Pierre A. Coulombe,

AKT Has an Anti-Apoptotic Role in ABCA12-Deficient Keratinocytes

Quasi-Normal Cornified Cell Envelopes in Loricrin Knockout Mice Imply the Existence of a Loricrin Backup System Michal Jarnik, Pierre A. de Viragh, Elisabeth.

New Function for NF1 Tumor Suppressor

Light and Electron Microscopic Demonstration of the p75 Nerve Growth Factor Receptor in Normal Human Cutaneous Nerve Fibers: New Vistas Yong Liang, Olle.

Histochemical and Immunohistochemical Markers for Human Eccrine and Apocrine Sweat Glands: An Aid for Histopathologic Differentiation of Sweat Gland Tumors

Changing Pattern of Deiminated Proteins in Developing Human Epidermis

A Novel Helix Termination Mutation in Keratin 10 in Annular Epidermolytic Ichthyosis, a Variant of Bullous Congenital Ichthyosiform Erythroderma Yasushi.

Different Consequences of β1 Integrin Deletion in Neonatal and Adult Mouse Epidermis Reveal a Context-Dependent Role of Integrins in Regulating Proliferation,

Mutant Loricrin is Not Crosslinked into the Cornified Cell Envelope but is Translocated into the Nucleus in Loricrin Keratoderma Akemi Ishida-Yamamoto,

Eli Sprecher, Christopher J. Miller, Gabriele Richard

Localization of Serine Racemase and Its Role in the Skin

Compound Heterozygous TGM1 Mutations Including a Novel Missense Mutation L204Q in a Mild Form of Lamellar Ichthyosis Masashi Akiyama, Itsuro Matsuo

Epidermal Tight Junctions: ZO-1 and Occludin are Expressed in Mature, Developing, and Affected Skin and In Vitro Differentiating Keratinocytes Kati Pummi,

Masashi Akiyama, Lynne T. Smith, Hiroshi Shimizu

Neil V. Whittock, Gabrielle H. S. Ashton, Patricia J. C

Expanding The Phenotypic Spectrum of Cx26 Disorders: Bart–Pumphrey Syndrome is Caused by a Novel Missense Mutation in GJB2 Gabriele Richard, Nkecha Brown,

Epidermal Organization and Differentiation of HaCaT Keratinocytes in Organotypic Coculture with Human Dermal Fibroblasts Veronika M. Schoop, Norbert.

Molecular Architecture of Tight Junctions of Periderm Differs From That of the Maculae Occludentes of Epidermis Kazumasa Morita, Yoko Yoshida, Yoshiki.

Loss of Normal Profilaggrin and Filaggrin in Flaky Tail (ft/ft) Mice: an Animal Model for the Filaggrin-Deficient Skin Disease Ichthyosis Vulgaris Richard.

A Gain-of-Function Mutation in TRPV3 Causes Focal Palmoplantar Keratoderma in a Chinese Family Yuqing He, Kang Zeng, Xibao Zhang, Qiaolin Chen, Jiang.

Periderm Cells Form Cornified Cell Envelope in Their Regression Process During Human Epidermal Development Masashi Akiyama Journal of Investigative.

Differential Expression of Cytokine mRNA in Skin Specimens from Patients with Erythema Migrans or Acrodermatitis Chronica Atrophicans Robert R. Müllegger,

Development of an Ichthyosiform Phenotype in Alox12b-Deficient Mouse Skin Transplants Silvia de Juanes, Nikolas Epp, Susanne Latzko, Mareen Neumann,

Azadeh Arabzadeh, Tammy-Claire Troy, Kursad Turksen

Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome Neil V. Whittock, Hong Wan,

In Vivo Ultrastructural Localization of the Desmoglein 3 Adhesive Interface to the Desmosome Mid-Line Atsushi Shimizu, Akira Ishiko, Takayuki Ota, Hitoshi.

Normal Human Merkel Cells are Present in Epidermal Cell Populations Isolated and Cultured from Glabrous and Hairy Skin Sites Julie Fradette, Danielle.

Ultrastructural Features of Trafficking Defects Are Pronounced in Melanocytic Nevus in Hermansky–Pudlak Syndrome Type 1 Ken Natsuga, Masashi Akiyama,

Rab11 Is Associated with Epidermal Lamellar Granules

Reconstruction of a Human Skin Equivalent Using a Spontaneously Transformed Keratinocyte Cell Line (HaCaT) Esther Boelsma, Mary C.H. Verhoeven, Maria.

Elafin, a Secretory Protein, is Cross-Linked into the Cornified Cell Envelopes from the Inside of Psoriatic Keratinocytes Hiroshi Nakane, Akemi Ishida-Yamamoto,

Keratinocyte Differentiation in Hyperproliferative Epidermis: Topical Application of PPARα Activators Restores Tissue Homeostasis László G. Kömüves,

Shigeru Kusuda, Cui Chang-Yi, Masae Takahashi, Tadashi Tezuka

Alterations in Desmosome Size and Number Coincide with the Loss of Keratinocyte Cohesion in Skin with Homozygous and Heterozygous Defects in the Desmosomal.

The 97 kDa Linear IgA Bullous Dermatosis Antigen is not Expressed in a Patient with Generalized Atrophic Benign Epidermolysis Bullosa with a Novel Homozygous.

Myosin V Colocalizes with Melanosomes and Subcortical Actin Bundles Not Associated with Stress Fibers in Human Epidermal Melanocytes Jo Lambert, Yves.

A Mutation in the V1 Domain of K16 is Responsible for Unilateral Palmoplantar Verrucous Nevus Alessandro Terrinoni, Vincenzo De Laurenzi, Eleonora Candi,

Neil V. Whittock, Frances J. Smith, W.H. Irwin McLean

Truncation of CGI-58 Protein Causes Malformation of Lamellar Granules Resulting in Ichthyosis in Dorfman-Chanarin Syndrome Masashi Akiyama, Daisuke Sawamura,

A Novel GJB2 Mutation p.Asn54His in a Patient with Palmoplantar Keratoderma, Sensorineural Hearing Loss and Knuckle Pads Masashi Akiyama, Kaori Sakai,

Lack of Membrane Expression of Interleukin-2 Receptor α Chain (CD25) in Mycosis Fungoides: Application of Laser Scanning Cytometry for Phenotyping of.

Novel ALDH3A2 Heterozygous Mutations Are Associated with Defective Lamellar Granule Formation in a Japanese Family of Sjögren–Larsson Syndrome Akihiko.

LEDGF/DFS70, a Major Autoantigen of Atopic Dermatitis, Is a Component of Keratohyalin Granules Kazumitsu Sugiura, Yoshinao Muro, Yuji Nishizawa, Miyako.

Sequential Reorganization of Cornified Cell Keratin Filaments Involving Filaggrin- Mediated Compaction and Keratin 1 Deimination Akemi Ishida-Yamamoto,

97kDa Linear IgA Bullous Dermatosis Antigen Localizes in the Lamina Lucida Between the NC16A and Carboxyl Terminal Domains of the 180kDa Bullous Pemphigoid.

Characterization of Epidermal Wound Healing in a Human Skin Organ Culture Model: Acceleration by Transplanted Keratinocytes1 Ingrid Moll, Pia Houdek,

Novel Mutations in the LAMB3 Gene Shared by Two Japanese Unrelated Families with Herlitz Junctional Epidermolysis Bullosa, and Their Application for Prenatal.

Presentation transcript:

Abnormal Cornified Cell Envelope Formation in Mutilating Palmoplantar Keratoderma Unrelated to Epidermal Differentiation Complex Masashi Akiyama, Angela M. Christiano, Kozo Yoneda, Hiroshi Shimizu Journal of Investigative Dermatology Volume 111, Issue 1, Pages 133-138 (July 1998) DOI: 10.1046/j.1523-1747.1998.00230.x Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Linkage to the EDC on 1q21 is excluded in this family of MPPK. (a) Pedigree of the family. Case 1 is the proband. Note the consanguinity in the grandparents. (b) Analysis of microsatellite markers shows exclusion of linkage to the three microsatellites, D1S2344, D1S2345, and D1S305, in case 1 and case 2. Note that the proband and his sister have inherited different parental alleles for each of the three markers. Journal of Investigative Dermatology 1998 111, 133-138DOI: (10.1046/j.1523-1747.1998.00230.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Characteristic clinical features and histopathology of the finger lesion of the proband. (a) The palm has a hyperkeratotic waxy appearance. Marked pseudoainhum is noted on the DIP joint of the right fourth and fifth and left third fingers. (b) Marked hyperkeratosis and moderate acanthosis are seen (hematoxylin and eosin stain). Hypergranulosis is present but parakeratosis is not seen. Scale bar, 100 μm. Journal of Investigative Dermatology 1998 111, 133-138DOI: (10.1046/j.1523-1747.1998.00230.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Electron microscopy of the lesional skin of the proband shows abnormal CCE formation. Granular cells have normal keratin bundles and keratohyalin granules (a). Thin CCE is normally formed in the granular cells (b), but in the cornified cells, CCE in patient skin (c) is remarkably thinner than in normal control skin (d). Ring-shaped structures of thin CCE and desmosomes are seen in an upper granular cell (e). Arrowheads, CCE;arrows, lipid droplets. Scale bars, (a) 2 μm, (b–d) 0.2 μm, (e) 0.5 μm. Journal of Investigative Dermatology 1998 111, 133-138DOI: (10.1046/j.1523-1747.1998.00230.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 4 Weak cytoplasmic expression of loricrin in the granular layers of the lesional skin. Loricrin immunolabeling is detected by fluorescein isothiocyanate-conjugated secondary antibody (green) and nuclear stain is performed by propidium iodide (red). Loricrin immunolabeling in the lesional skin (a) and nonlesional skin (b) of the patient. Immunofluorescent labeling of loricrin is abnormally weak, cytoplasmic in the granular layers of the lesional skin in contrast to linear membranous stainings in the nonlesional site. Scale bars, 50 μm. Journal of Investigative Dermatology 1998 111, 133-138DOI: (10.1046/j.1523-1747.1998.00230.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 5 Membranous stainings in the granular and upper spinous layers both for involucrin and for SPRP 1 and 2 are similarly observed in lesional and nonlesional skin of the patient. Involucrin and SPRP 1 and 2 immunolabelings are detected by fluorescein isothiocyanate-conjugated secondary antibody (green) and nuclear stain is carried out by propidium iodide (red). Involucrin immunolabeling in lesional skin (a) and nonlesional skin (b), SPRP 1 and 2 immunolocalization in lesional skin (c) and nonlesional skin (d) of the patient and normal control skin (e). Scale bars, 50 μm. Journal of Investigative Dermatology 1998 111, 133-138DOI: (10.1046/j.1523-1747.1998.00230.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 6 Post-embedding immunoelectron microscopy shows strikingly reduced loricrin deposition to CCE in lesional skin. Ultrastructural distribution of loricrin and involucrin is demonstrated by silver-enhanced immunogold particles. Note sparse loricrin labeling on CCE of a cornified cell in the patient skin (a), in contrast to dense loricrin labeling in normal control skin (b). On the other hand, involucrin labeling on CCE of a cornified cell is rich in the patient skin (c), but not in normal control skin (d). Scale bars, 0.2 μm. Journal of Investigative Dermatology 1998 111, 133-138DOI: (10.1046/j.1523-1747.1998.00230.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions