Exp Dermatol 2017 Aug 20. Epub 2017 Aug 20.

Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

Pemphigoid diseases (PD) are a subgroup of rare acute or chronic autoimmune skin disorders characterized and caused by autoantibodies directed against distinct structural components of the dermal-epidermal junction. Binding of autoantibodies to their targets leads to the formation of blisters and erosions in patients. PDs comprise eight disorders for which the molecular target antigens have been identified. Read More

Br J Dermatol 2017 Aug 18. Epub 2017 Aug 18.

Division of Basic and Translational Biophysics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD.

Colchicine is a historic treatment for gout that has been used for more than a millennium. It is the treatment of choice for Familial Mediterranean Fever and its associated complication, amyloidosis. The 2009 FDA approval of colchicine as a new drug had research consequences. Read More

J Invest Dermatol 2017 Aug 19. Epub 2017 Aug 19.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

Drug Deliv Transl Res 2017 Aug 15. Epub 2017 Aug 15.

Cell and Gene Therapy Catapult, 12th Floor Tower Wing, Guys Hospital, Great Maze Pond, London, SE1 9RT, UK.

Current methods for intradermal delivery of therapeutic products in clinical use include manual injection via the Mantoux technique and the use of injection devices, primarily developed for the delivery of vaccines and small molecules. A novel automated injection device is presented specifically designed for accurate delivery of multiple doses of product through a number of adjustable injection parameters, including injection depth, dose volume and needle insertion speed. The device was originally conceived for the delivery of a cell-based therapy to patients with skin wounds caused by epidermolysis bullosa. Read More

Sci Rep 2017 Aug 15;7(1):8141. Epub 2017 Aug 15.

Department of Medical Microbiology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.

The immunodominant staphylococcal antigen A (IsaA) is a potential target for active or passive immunization against the important human pathogen Staphylococcus aureus. Consistent with this view, monoclonal antibodies against IsaA were previously shown to be protective against S. aureus infections in mouse models. Read More

Mol Ther 2017 Jul 13. Epub 2017 Jul 13.

EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria. Electronic address:

Designer nucleases allow specific and precise genomic modifications and represent versatile molecular tools for the correction of disease-associated mutations. In this study, we have exploited an ex vivo CRISPR/Cas9-mediated homology-directed repair approach for the correction of a frequent inherited mutation in exon 80 of COL7A1, which impairs type VII collagen expression, causing the severe blistering skin disease recessive dystrophic epidermolysis bullosa. Upon CRISPR/Cas9 treatment of patient-derived keratinocytes, using either the wild-type Cas9 or D10A nickase, corrected single-cell clones expressed and secreted similar levels of type VII collagen as control keratinocytes. Read More

Clin Rev Allergy Immunol 2017 Aug 4. Epub 2017 Aug 4.

Department of Dermatology, University of Bern, Bern, Switzerland.

Autoimmune subepidermal blistering diseases of the skin and mucosae constitute a large group of sometimes devastating diseases, encompassing bullous pemphigoid, gestational pemphigoid, mucous membrane pemphigoid, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. Their clinical presentation is polymorphic. These autoimmune blistering diseases are associated with autoantibodies that target distinct components of the basement membrane zone of stratified epithelia. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Aug;34(4):504-508

Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha, Hunan 410078, China.

Objective: To determine the molecular etiology for a Chinese pedigree affected with epidermolysis bullosa simplex (EBS).

Methods: Target region sequencing using a hereditary epidermolysis bullosa capture array combined with Sanger sequencing and bioinformatics analysis were used. Mutation taster, PolyPhen-2, Provean, and SIFT software and NCBI online were employed to assess the pathogenicity and conservation of detected mutations. Read More

J Oral Implantol 2017 Aug 4. Epub 2017 Aug 4.

3 Tehran University of Medical Sciences Dental School prosthodontic Tehran University of Medical Sciences Dental School.

Epidermolysis bullosa (EB) is a hereditary mucocutaneous disorder with several oral and systemic manifestations. Major problems with dental management of such patients are blisters induced from trauma and microstomia. Therefore, fixed implant-supported prosthesis may result in higher levels of satisfaction in complete edentulous EB patients. Read More

Am J Med Genet A 2017 Aug 2. Epub 2017 Aug 2.

Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.

The gene DST encodes for the large protein BPAG1 involved in hemidesmosomes. Its alternative splicing gives rise to tissue-enriched isoforms in brain, muscle, and skin. The few patients described so far with bi-allelic mutations in the DST gene have either a skin phenotype of epidermolysis bullosa simplex or a neurological phenotype. Read More

Mol Ther Methods Clin Dev 2017 Sep 5;6:112-123. Epub 2017 Jul 5.

EB House Austria, Research Program for Molecular Therapy of Genodermatoses and Department of Dermatology, University Hospital of the Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.

Epidermolysis bullosa simplex (EBS) is a blistering skin disease caused by dominant-negative mutations in either KRT5 or KRT14, resulting in impairment of keratin filament structure and epidermal fragility. Currently, nearly 200 mutations distributed across the entire length of these genes are known to cause EBS. Genome editing using programmable nucleases enables the development of ex vivo gene therapies for dominant-negative genetic diseases. Read More

Int J Trichology 2017 Jan-Mar;9(1):33-34

Department of Dermatology, Hospital General de Ciudad Real, Obispo Rafael Torija, 13005, Ciudad Real, Spain.

Membranous, bullous, or cystic aplasia cutis congenita is a clinical subtype of aplasia cutis, covered with a membranous or glistening surface. A male newborn presented at birth with two flat lesions on the left parietal scalp, surrounded by a rim of terminal hairs. Physical examination revealed two translucent papules. Read More

J Biomed Inform 2017 07 25. Epub 2017 Jul 25.

INSERM, Centre de Recherche des Cordeliers, UMR 1138 Equipe 22, Université Paris Descartes, Sorbonne Paris Cité, Paris, France; Département d'informatique médicale, Hôpital Necker-Enfants Malades, Assistance Publique -Hôpitaux de Paris (AP-HP), Université Paris Descartes, Sorbonne Paris Cité, France; Hôpital Européen Georges Pompidou, Assistance Publique -Hôpitaux de Paris (AP-HP), Université Paris Descartes, Sorbonne Paris Cité, France.

Objective: In the context of rare diseases, it may be helpful to detect patients with similar medical histories, diagnoses and outcomes from a large number of cases with automated methods. To reduce the time to find new cases, we developed a method to find similar patients given an index case leveraging data from the electronic health records.

Materials And Methods: We used the clinical data warehouse of a children academic hospital in Paris, France (Necker-Enfants Malades), containing about 400,000 patients. Read More

Indian J Dermatol Venereol Leprol 2017 Sep-Oct;83(5):550-555

Department of Dermatology, University of Lübeck, Lübeck, Germany.

Background: Subepidermal autoimmune bullous diseases are a diverse group of diseases with overlapping clinical and immunopathological features. Indirect immunofluorescence microscopy on artificially split skin helps to classify these conditions into those with staining on the epidermal side of the split ("roof-binding") and those with staining on the dermal side ("floor-binding"). Epidermolysis bullosa acquisita is the prototype of "floor-binding" subepidermal autoimmune bullous diseases. Read More

J Invest Dermatol 2017 Jul 20. Epub 2017 Jul 20.

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

Hereditary epidermolysis bullosa (EB) is associated with skin blistering and the development of chronic non-healing wounds. Although clinical studies have shown that cell-based therapies improve wound healing, recruitment of therapeutic cells to blistering skin and to more advanced skin lesions remains a challenge. Here, we analyzed cytokines and chemokines in blister fluids (BF) of patients affected by dystrophic, junctional and simplex EB. Read More

Br J Dermatol 2017 Jul 22. Epub 2017 Jul 22.

Department of Dermatology, University of Heidelberg, Heidelberg, Germany.

Background: Neutrophil (polymorphonuclear) granulocytes (PMN) were shown to contribute to the pathogenesis of psoriasis by releasing IL-17 and LL-37/ DNA complexes via neutrophil extracellular traps (NET), webs of chromatin strands decorated with antimicrobial peptides, in psoriatic skin. Fumaderm(®) , a fumaric acid ester (FAE) formulation consisting of different FAE salts has been successfully used to treat psoriasis for decades. Most recently, FAE treatment was reported to inhibit NET formation in murine epidermolysis bullosa acquisita. Read More

Prosthet Orthot Int 2017 Jul 1:309364617718410. Epub 2017 Jul 1.

1 Department of Physical and Rehabilitation Medicine, University Hospitals Leuven, Leuven, Belgium.

Background: Epidermolysis bullosa dystrophica is a rare dermatological disease characterized by extreme skin fragility and elevated risk of developing a squamous cell carcinoma. In some cases, amputation of a limb is necessary. Case description and methods: A 37-year-old man with recessive, severe generalized epidermolysis bullosa dystrophica developed a squamous cell carcinoma on the right forearm requiring a below-elbow amputation. Read More

J Cutan Med Surg 2017 Jul 1:1203475417722734. Epub 2017 Jul 1.

1 Departments of Dermatology and Skin Science, University of British Columbia, Vancouver, BC, Canada.

Background: It has been postulated that periodic acid-Schiff staining of basement membrane can predict direct immunofluorescence patterns seen in epidermolysis bullosa acquisita and bullous pemphigoid. It has also been suggested that the type of inflammatory infiltrate or presence of fraying of basal keratinocytes may differentiate these two conditions.

Objective: In this study, we aimed to confirm these observations. Read More

Br J Dermatol 2017 Jul 18. Epub 2017 Jul 18.

Dermatologist& Honorary Paediatric Dermatology, St John's Institute of Dermatology, Guy's and St Thomas' Hospital, London, United Kingdom.

Epidermolysis bullosa (EB) is a group of inherited diseases characterised by recurrent skin blistering due to impaired epidermal or dermo-epidermal adhesion. In some subtypes, damage to internal organs causes serious comorbidities, and an increased risk of early and aggressive squamous cell carcinoma (SCC) characterizes recessive dystrophic EB (RDEB). It is likely that EB will only be cured by mutation-correction interventions, but until that goal becomes a reality we need to pool and extend knowledge about wound management and other strategies to improve quality of life for people with EB. Read More

J Dermatol Sci 2017 Jun 30. Epub 2017 Jun 30.

Department of Dermatology, University of Lübeck, Lübeck, Germany; Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.

Australas J Dermatol 2017 Jul 13. Epub 2017 Jul 13.

Department of Basic Sciences, Health Sciences Division, Universidad de Monterrey, Guadalupe, Nuevo León, México.

Skinmed 2017 1;15(3):175-180. Epub 2017 Jun 1.

Department of Dermatology, Autoimmune Bullous Diseases Research Center, Tehran University of Medical Sciences, Tehran, Iran.

Autoimmune bullous diseases (ABDs) are uncommon but significant skin disorders with relatively high morbidity and mortality. Some surveys have been carried out to describe the spectrum of ABDs in a region, but this is the first that has focused on ABDs in elderly patients. This study was conducted to determine the clinicoepidemiologic features of ABDs in elderly patients. Read More

Br J Dermatol 2017 Jul 13. Epub 2017 Jul 13.

Department of Dermatology and Allergology, Philipps-University, Marburg, Germany.

Background: Epidermolysis bullosa acquisita is a rare, potentially devastating autoimmune disease of the skin. IgG autoantibodies directed against type VII collagen (Col7), the major component of anchoring fibrils, induce skin fragility leading to cutaneous and mucocutaneous blister formation which is mostly of a scaring phenotype. Thus, powerful and reproducible diagnostic assays are critical to establish the diagnosis of EBA early to avoid irreversible sequelae. Read More

Int J Prosthodont 2017 Jul/Aug;30(4):390-393

Epidermolysis bullosa belongs to a group of genetic diseases that present with skin disorders and is characterized by generalized blister formation in response to mechanical trauma. This article reports on the management of a recessive dystrophic epidermolytic patient with four remaining periodontally compromised maxillary teeth. Treatment involved placement of four maxillary implants and use of computer-aided design/computer-assisted manufacture techniques to fabricate a fixed full-arch implant-supported prosthesis. Read More

Elife 2017 Jul 11;6. Epub 2017 Jul 11.

Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

Type XVII collagen (COL17) is a transmembrane protein located at the epidermal basement membrane zone. COL17 deficiency results in premature hair aging phenotypes and in junctional epidermolysis bullosa. Here, we show that COL17 plays a central role in regulating interfollicular epidermis (IFE) proliferation. Read More

J Clin Invest 2017 Aug 10;127(8):3028-3038. Epub 2017 Jul 10.

Department of Dermatology, The Keck School of Medicine, University of Southern California (USC), Los Angeles, California, USA.

Background: Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibrils (AF). We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring nonsense mutations. Herein, we determined whether topical or intradermal gentamicin administration induces type VII collagen and AFs in RDEB patients. Read More

Eur J Dermatol 2017 Jun;27(S1):8-11

Department of Dermatology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

Focal adhesions are large multiprotein cell-matrix adhesion complexes, which regulate multiple cellular functions, such as adhesion and migration. Their biological significance in skin is underscored by two genetic disorders, the Kindler syndrome and the interstitial lung disease, nephrotic syndrome and epidermolysis bullosa, in which mutations affect focal adhesion proteins, kindlin-1 and the integrin α3 subunit, respectively. Here we provide an overview of what we learned from the study of the molecular mechanisms of these diseases. Read More

Pediatr Dermatol 2017 Jul;34(4):497

Stem Cell Res Ther 2017 Jul 4;8(1):155. Epub 2017 Jul 4.

Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.

Transplantation of cultured epidermal cell sheets (CES) has long been used to treat patients with burns, chronic wounds, and stable vitiligo. In patients with large area burns this can be a life-saving procedure. The ultimate goal, however, is to restore all normal functions of the skin and prevent scar formation. Read More

J Clin Aesthet Dermatol 2017 May 1;10(5):36-48. Epub 2017 May 1.

GenArmor, Winston-Salem, North Carolina.

Objective: Epidermolysis bullosa (EB) is an orphan disease that affects about half a million people worldwide, but may not be familiar to all clinicians. The authors' goal was to present a short description of this condition and current research in the form of a narrative review. Methods: The authors reviewed the literature on epidermolysis bullosa in order to describe the condition and current genetic research. Read More

J Plast Surg Hand Surg 2017 Jul 2:1-7. Epub 2017 Jul 2.

a Department of Plastic, Reconstructive and Aesthetic Surgery , Gazi University School of Medicine , Ankara , Turkey.

Treatment of hand deformities in epidermolysis bullosa patients represents a challenging field in hand surgery practice, thus a systematic approach by a team is mandatory for a successful result. A simple and practical algorithm for the surgical treatment of hand deformities in EB was employed by the authors where the deformities of each digit in EB patients was categorized according to pseudosyndactyly and interphalangeal joint contracture severity for guidance during the surgical treatment. The current study retrospectively reviewed the medical records and photographic data of 13 EB patients followed in our department, for whom a systematic approach to the management and treatment was used. Read More

Orphanet J Rare Dis 2017 Jun 28;12(1):119. Epub 2017 Jun 28.

Reference Centre for Inherited Epidermolysis Bullosa, Archet 2 Hospital, University of Nice Sophia Antipolis, Nice, France.

Background: A localized form of epidermolysis bullosa simplex (EBS-l) is considered one of the mildest forms of epidermolysis bullosa (EB), with blisters limited to the palms and soles. However, these lesions can be very painful. The aim of the study was to characterize pain in patients with EBS-l and evaluate its impact on quality of life (QoL). Read More

Arch Dermatol Res 2017 Jun 24. Epub 2017 Jun 24.

Faculty of Medicine, Medical Centre for Molecular Biology, University of Ljubljana, Ljubljana, Slovenia.

The keratin filament cytoskeleton is vital to the normal function of epithelial cells. It provides structural support and regulates different aspects of cell metabolism. Mutations in keratins 5 and 14 cause a skin fragility disorder, epidermolysis bullosa simplex (EBS). Read More

J Immunoassay Immunochem 2017 Jun 22:1-15. Epub 2017 Jun 22.

b Dermatology Department, Faculty of Medicine , Menoufia University , Shebein Elkom , Egypt.

There are many theories explaining vitiligo such as genetic, autoimmune, neural, free radicals, biochemical, intrinsic defect, melanocytorrhagy, and convergent theories. Phenytoin is a widely used anticonvulsant, which is used in cutaneous medicine for treatment of ulcers and epidermolysis bullosa. The aim of this study is to assess the effectiveness of topical phenytoin gel in the treatment of vitiligo patients and explaining the underlying mechanism using immunohistochemistry for evaluation of HMB45, CD4, and CD8. Read More

Int J STD AIDS 2017 Jan 1:956462417696433. Epub 2017 Jan 1.

Department of Dermatology, Topiwala National Medical College & B.Y.L. Nair Ch. Hospital, Mumbai, India.

Epidermolysis bullosa acquisita is a chronic subepidermal blistering disease associated with autoimmunity to type-VII collagen within anchoring fibrils located at the dermo-epidermal junction. This entity is rarely reported from India. It can have a variety of presentations. Read More

Semin Cell Dev Biol 2017 Jun 13. Epub 2017 Jun 13.

Laboratory for Bone Metabolism, Key Laboratory for Space Bioscience and Biotechnology, School of Life Sciences, Northwestern Polytechnical University, Xi'an, Shaanxi 710072, PR China; Shenzhen Research Institution of Northwestern Polytechnical University, Shenzhen, 518057, PR China; Northwestern Polytechnical University-Hong Kong Baptist University Joint Research Centre for Translational Medicine on Musculoskeletal Health in Space, Xi'an, 710072, PR China. Electronic address:

Spectraplakins are multifunctional cytoskeletal linker proteins that act as important communicators, connecting cytoskeletal components with each other and to cellular junctions. Bullous pemphigoid antigen 1 (BPAG1)/dystonin is a member of spectraplakin family and expressed in various tissues. Alternative splicing of BPAG1 gene produces various isoforms with unique structure and domains. Read More

BMC Nephrol 2017 Jun 14;18(1):193. Epub 2017 Jun 14.

Department of Nephrology, Transplantation and Internal Medicine, Pomeranian Medical University, Al. Powstańców Wielkopolskich 72, 70-111, Szczecin, Poland.

Background: Epidermolysis bullosa is a group of diseases caused by mutations in genes for proteins responsible for cells' anchorage at the dermo-epidermal junction. Their common feature are dysfunctional or even absent connections between cells. The typical clinical sign is the formation of blisters, with possible excessive scarring, in response to minimal skin irritation. Read More

Dermatol Res Pract 2017 22;2017:5068969. Epub 2017 May 22.

Epidermolysis Bullosa Centre, Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany.

Introduction: Skin fragility and recurrent wounds are hallmarks of hereditary epidermolysis bullosa (EB). Treatment options to accelerate wound healing are urgently needed. Oleogel-S10 contains a betulin-rich triterpene extract from birch bark. Read More

J Coll Physicians Surg Pak 2017 May;27(5):308-310

Department of Bioinformatics and Biotechnology, International Islamic University, Islamabad. Pakistan.

Junctional epidermolysis bullosa (JEB) is a recessively inherited skin blistering disease and is caused due to abnormalities in proteins that hold layers of the skin. Herlitz JEB is the severe form and non-Herlitz JEB is the milder form. This report describes a case of congenitally affected male child aged 5 years, with skin blistering. Read More

Exp Biol Med (Maywood) 2017 Jan 1:1535370217712690. Epub 2017 Jan 1.

1 Department of Dermatology, Columbia University Medical Center, New York, NY 10032, USA.

Many diseases, as well as side effects of drugs, manifest themselves through skin symptoms. Skin is a complex tissue that hosts various specialized cell types and performs many roles including physical barrier, immune and sensory functions. Therefore, modeling skin in vitro presents technical challenges for tissue engineering. Read More

Int J Mol Sci 2017 Jun 3;18(6). Epub 2017 Jun 3.

GMP Unit, Spinal Cord Injury and Tissue Regeneration Center Salzburg (SCI-TReCS), Paracelsus Medical University (PMU), 5020 Salzburg, Austria.

Extracellular vesicles (EVs) derived from stem and progenitor cells may have therapeutic effects comparable to their parental cells and are considered promising agents for the treatment of a variety of diseases. To this end, strategies must be designed to successfully translate EV research and to develop safe and efficacious therapies, whilst taking into account the applicable regulations. Here, we discuss the requirements for manufacturing, safety, and efficacy testing of EVs along their path from the laboratory to the patient. Read More

Br J Dermatol 2017 Jun;176(6):1442-1443

St John's Institute of Dermatology (King's College London), Dermatology Research Labs, Floor 9 Tower Wing, Guy's Hospital, Great Maze Pond, London, SE1 9RT, U.K.

J Invest Dermatol 2017 May 30. Epub 2017 May 30.

Centre for Human Genetics, Freiburg, Germany.

J Invest Dermatol 2017 May 30. Epub 2017 May 30.

Department of Physiology, Semmelweis University School of Medicine, 1094 Budapest, Hungary; MTA-SE "Lendület" Inflammation Physiology Research Group of the Hungarian Academy of Sciences and Semmelweis University, 1094 Budapest, Hungary. Electronic address:

The inflammatory form of epidermolysis bullosa acquisita is caused by autoantibodies against type VII collagen (C7), a component of the dermal-epidermal junction. We have previously shown that myeloid Src-family kinases mediate skin inflammation triggered by anti-C7 antibodies. Here we identify the Syk tyrosine kinase as a critical component of autoantibody-induced skin inflammation downstream of Src-family kinases. Read More

Acta Derm Venereol 2017 May 31. Epub 2017 May 31.

Department of Dermatology, St George Hospital, Sydney, Australia.

Epidermolysis bullosa simplex (EBS) is a rare heritable skin fragility disorder, most commonly caused by dominant mutations in KRT5 and KRT14. EBS shows clinical heterogeneity with localised, intermediate and generalised severe forms, which tend to correlate with the location and nature of the disease causing mutations. We therefore aimed to identify the KRT5 and KRT14 mutations in patients diagnosed with EBS in Australia, and explore in depth the genotype to the phenotype correlations in patients with novel variants. Read More

Br J Dermatol 2017 May 31. Epub 2017 May 31.

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata-IRCCS, via dei Monti di Creta, 104, 00167, Rome, Italy.

Recessive mutations in the LAMA3A, LAMB3 and LAMC2 genes coding for laminin-332 (α3aβ3γ2) chains cause different junctional epidermolysis bullosa (JEB) subtypes. Biallelic truncating mutations in any of the three genes usually lead to lack of protein expression resulting in the severe generalized JEB subtype, while missense or splicing mutations in at least one allele lead to reduced expression typical of generalized intermediate or localized JEB. Here, we molecularly characterized an adult JEB patient showing negative skin staining for the anti-β3 chain mAb K140. Read More

J Invest Dermatol 2017 May 27. Epub 2017 May 27.

Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Fetal Pediatr Pathol 2017 May 30:1-8. Epub 2017 May 30.

b Division of Neonatology, Department of Pediatrics , Hacettepe University Faculty of Medicine , Ankara , Turkey.

Background: Epidermolysis bullosa with pyloric atresia (EB-PA) is an autosomal recessive disorder due to mutations in ITGA6 and/or ITGB4, resulting in altered expression of α6β4 integrin. EB-PA can also occur with aplasia cutis.

Case Report: We present a newborn with EB-PA and aplasia cutis, born of consanguineous parents, with a homozygous c. Read More

J Invest Dermatol 2017 May 24. Epub 2017 May 24.

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder caused by the lack of functional type VII collagen, leading to skin fragility and subsequent trauma-induced separation of the epidermis from the underlying dermis. A total of 46% of patients with RDEB harbor at least one premature termination codon (PTC) mutation in COL7A1, and previous studies have shown that aminoglycosides are able to overcome RDEB PTC mutations by inducing "read-through" and incorporation of an amino acid at the PTC site. However, aminoglycoside toxicity will likely prevent widespread clinical application. Read More

J Invest Dermatol 2017 Jun;137(6):1211-1212

Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany. Electronic address:

A new protein, kelch-like 24, has recently been associated with a distinct subtype of epidermolysis bullosa simplex, a heterogeneous group of disorders associated with mechanical fragility of epidermal keratinocytes. All mutations involve the translation initiation codon and lead to a degradation-resistant N-terminally truncated kelch-like 24. Kelch-like 24 appears to be involved in the turnover of intermediated filaments, in particular of keratin 14, in keratinocytes. Read More