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Acta Derm Venereol 2020 Jul;100(220)

J Cell Sci 2020 Jul 2. Epub 2020 Jul 2.

Institute of Biology, Faculty of Life Sciences, University of Leipzig, Leipzig, Germany

Keratin (K) intermediate filament proteins constitute the major cytoskeletal components in epithelial cells. Missense mutations in K5 or K14, highly expressed in the basal epidermis, cause the severe skin blistering disease epidermolysis bullosa simplex (EBS). EBS-associated mutations disrupt keratin networks and change keratinocyte mechanics, however, molecular mechanisms by which mutations shape EBS pathology remain incompletely understood. Read More

J Am Acad Dermatol 2020 Jun 24. Epub 2020 Jun 24.

Departments of Dermatology.

Background: Transition from pediatric to adult care is a critical component of healthcare for children with chronic needs. The characteristics of epidermolysis bullosa (EB) demand higher than average levels of provider support. There is consensus among health care professionals regarding the importance of transition, however, there is a scarcity of practical information regarding models for patients with EB. Read More

J Dermatolog Treat 2020 Jun 26:1-6. Epub 2020 Jun 26.

Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Orphanet J Rare Dis 2020 Jun 23;15(1):158. Epub 2020 Jun 23.

Amicus Therapeutics, Inc, Cranbury, NJ, USA.

Background: Epidermolysis bullosa (EB) is a rare genetic disorder that manifests as blistering and/or skin erosion. There is no approved treatment for EB; current standard of care consists of wound and pain management. SD-101 6% is a topical cream containing 6% allantoin that was developed for treating skin lesions in patients with EB. Read More

Pediatr Dermatol 2020 Jun 16. Epub 2020 Jun 16.

Division of Dermatology, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.

Bullous dermolysis of the newborn is a subtype of dystrophic epidermolysis bullosa that typically resolves within the first two years of life. We present a case of autosomal dominant bullous dermolysis of the newborn and report a novel pathogenic mutation. This case highlights that collagen VII mutations may present clinically with a mild phenotype. Read More

J Invest Dermatol 2020 Jun 12. Epub 2020 Jun 12.

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

Mol Genet Genomic Med 2020 Jun 14:e1347. Epub 2020 Jun 14.

Department of Gynecology & Obstetrics, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.

Background: Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is an incurable and severe inherited skin disorder characterized by recurrent blistering at the sublamina densa beneath the cutaneous basement membrane. It is caused by biallelic loss-of-function mutation in the gene encoding type VII collagen (COL7A1). This study aimed to identify the causative variants of a Chinese RDEB patient and further provide prenatal diagnosis for the ongoing risk pregnancy of the proband's mother. Read More

Plast Reconstr Surg Glob Open 2020 Mar 11;8(3):e2666. Epub 2020 Mar 11.

Department of Plastic Surgery, University of Pittsburgh Medical Center, Pittsburgh, Pa.

Epidermolysis bullosa describes a rare group of genetic mucocutaneous disorders characterized by excessive epithelial fragility resulting in mechanically induced blistering and abnormal wound healing. Its prevalence and incidence are 8.2 and 19. Read More

J Wound Care 2020 Jun;29(6):321-334

University of Miami Miller School of Medicine, Dr. Phillip Frost Dermatology and Cutaneous Surgery, 1321 NW 14th Street, Suite 506, Miami, FL 33125, US.

Objective: Children can have non-healing wounds due to a wide range of pathologies, including epidermolysis bullosa (EB), pilonidal disease and Stevens-Johnson syndrome, with some causes being iatrogenic, including extravasation injuries and medical device-related hospital-acquired pressure ulcers. Furthermore, paediatric wounds are vastly different from adult wounds and therefore require a different treatment approach. While there are numerous types of dressings, topical remedies, and matrices with high-tier evidence to support their use in adults, evidence is scarce in the neonatal and paediatric age groups. Read More

Australas J Dermatol 2020 Jun 10. Epub 2020 Jun 10.

Dermatology Department, Centro Hospital e Universitário do Porto, Porto, Portugal.

Epidermolysis bullosa pruriginosa, a genetic mechanobullous disease, manifests at birth or late in life and is characterised by intense pruritus, resulting in lichenified or nodular prurigo-like lesions and scarring most prominent on the shins. Treatment is unsatisfactory. We report a patient treated with success using a combination of topical and systemic agents. Read More

An Bras Dermatol 2020 Jul - Aug;95(4):536-538. Epub 2020 May 14.

Dermatology Service, Hospital Universitário de Taubaté, Taubaté, SP, Brazil.

Int J Dermatol 2020 Jul 7;59(7):851-855. Epub 2020 Jun 7.

Department of Dermatology, Ankara University, Ankara, Turkey.

Background: Epidermolysis bullosa pruriginosa (EBP) is rare a clinical variant of dystrophic epidermolysis bullosa characterized by trauma-induced bullae formation, milia and nail dystrophy accompanied by severe pruritus. Treatment pruritus of EBP focuses on immunosuppressive treatment with limited efficacy. Treatment strategies are not well-established. Read More

Clin Genet 2020 Jun 7. Epub 2020 Jun 7.

Section of Dermatology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.

Congenital absence of skin (CAS) is a clinical sign associated with the main types of epidermolysis bullosa (EB). Very few studies have investigated the genetic background that may influence the occurrence of this condition. Our objective was to investigate genotype-phenotype correlations on EB with CAS through a literature revision on the pathogenic variants previously reported. Read More

Orphanet J Rare Dis 2020 Jun 6;15(1):142. Epub 2020 Jun 6.

Dermatology Department, reference Centre MAGEC, Necker- Enfants Malades Hospital, Paris-Centre University, Paris, France.

Epidermolysis bullosa (EB) comprises a group of genetic disorders with the hallmark of fragility of the skin and mucosal surfaces. The severity of different types of EB varies markedly as does the occurrence of extra-cutaneous involvement and complications. A number of emergency situations may occur in the context of EB including obstruction to oral intake from oral or esophageal blisters or scarring, acute airway obstruction, acute urinary retention, sepsis and corneal erosions. Read More

Clin Exp Dermatol 2020 Jun 5. Epub 2020 Jun 5.

Department of Dermatology, Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom.

Background: Aplasia cutis congenita (ACC) is a rare, congenital disorder characterized by localised or widespread absence of skin at birth with heterogeneous clinical presentation. The classification proposed by Frieden in 1986 is widely used.

Aim: To establish whether, 34 years on, the Frieden classification still meets our needs. Read More

Mol Ther 2020 May 20. Epub 2020 May 20.

Department of Pediatrics, New York Medical College, Valhalla, NY 10595, USA. Electronic address:

Systemic skin-selective therapeutics would be a major advancement in the treatment of diseases affecting the entire skin, such as recessive dystrophic epidermolysis bullosa (RDEB), which is caused by mutations in the COL7A1 gene and manifests in transforming growth factor-β (TGF-β)-driven fibrosis and malignant transformation. Homing peptides containing a C-terminal R/KXXR/K motif (C-end rule [CendR] sequence) activate an extravasation and tissue penetration pathway for tumor-specific drug delivery. We have previously described a homing peptide CRKDKC (CRK) that contains a cryptic CendR motif and homes to angiogenic blood vessels in wounds and tumors, but it cannot penetrate cells or tissues. Read More

Clin Genet 2020 Jun 2. Epub 2020 Jun 2.

Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Epidermolysis bullosa (EB) is a heritable blistering disorder. We performed a next-generation sequencing-based multigene panel test and successfully predicted 100% of the EB types, including, 36 EB simplex (EBS), 13 junctional EB (JEB), 86 dystrophic EB (DEB), and 3 Kindler EB. Chinese JEB and recessive DEB (RDEB) patients have relatively mild phenotypes; for severe type separately accounts for 45. Read More

Dis Model Mech 2020 05 21;13(5). Epub 2020 May 21.

Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951-8510, Japan

Loss-of-function mutations in dystonin () can cause hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) or epidermolysis bullosa simplex (EBS). Recently, -related diseases were recognized to be more complex than previously thought because a patient exhibited both neurological and skin manifestations, whereas others display only one or the other. A single locus produces at least three major isoforms: (neuronal isoform), (muscular isoform) and (epithelial isoform). Read More

Arch Argent Pediatr 2020 06;118(3):e288-e291

Department of Medical Genetics, Tepecik Training and Research Hospital, Izmir, Turkey.

Pierson syndrome is characterized by congenital nephrotic syndrome and bilateral microcoria. Genetically, mutations in the LAMB2 gene, which encodes the laminin β2 chain, lead to this disorder. To date, 98 cases and 50 different mutations have been reported in literature. Read More

J Pediatr Pharmacol Ther 2020 ;25(4):332-335

Sleep disturbance is a crucial issue in pediatric palliative care, with a dramatic impact on the quality of life of children and families. Dexmedetomidine (DEX) is a selective α-2 agonist, with anxiolytic, hypnotic, and analgesic properties, that could play a role in the management of refractory sleep disturbances. We describe the use of intranasal DEX as a sleep inductor in a 10-year-old female with dystrophic epidermolysis bullosa and a severe sleep disorder. Read More

J Eur Acad Dermatol Venereol 2020 May 26. Epub 2020 May 26.

Center for Research & Development, Kaohsiung Municipal Siaogang Hospital, Kaohsiung, Taiwan.

Less is known about gastrointestinal (GI) involvement of primary skin diseases due to the difference in embryology, histology, microbiology and physiology between integument and alimentary tract. Oesophagus, following the oropharyngeal mucosa, is the most common GI segment affected by primary skin diseases, especially by eosinophilic oesophagitis, lichen planus and autoimmune bullous dermatoses like pemphigus vulgaris, mucosal membrane pemphigoid and epidermolysis bullosa acquisita. Eosinophilic oesophagitis is an emerging chronic atopic disease with oesophageal dysfunction as the typical presentation, and oesophageal narrowing, rings and stricture as late complications. Read More

J Invest Dermatol 2020 May 22. Epub 2020 May 22.

Lübeck Institute of Experimental Dermatology, University of Lübeck, Germany. Electronic address:

Propranolol is a ß-adrenoreceptor type 2 (ADRB2) blocker that regulates heart muscle contractions, smooth muscle relaxation and glycogenolysis. In addition, an increasing number of applications in dermatology have been described; most prominently, the use as a first-line treatment for infantile hemangiomas. We here show that propranolol enhances IL-8-induced neutrophil chemotaxis and reduces the release of reactive oxygen species (ROS) after immune complex (IC) stimulation. Read More

J Invest Dermatol 2020 May 16. Epub 2020 May 16.

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

Clin Exp Dermatol 2020 May 14. Epub 2020 May 14.

Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.

J Am Acad Dermatol 2020 May 11. Epub 2020 May 11.

Department of Dermatology, Venereology and Leprology, Kasturba Medical College, Manipal.

Clin Exp Dermatol 2020 May 14. Epub 2020 May 14.

Department of Dermatology, Dystrophic Epidermolysis Bullosa Research Association Mexico, Guadalupe, Mexico.

J Dermatol 2020 Jul 12;47(7):782-786. Epub 2020 May 12.

Department of Dermatology, School of Medicine, Jinling Hospital, Nanjing University, Nanjing, China.

Dystrophic epidermolysis bullosa (DEB) is a genodermatosis caused by mutations in the COL7A1 gene. DEB, nails only (DEB-na), is a rare type of DEB. Patients with DEB-na can be overlooked, and genetic testing is helpful to determine the correct diagnosis. Read More

JAAD Case Rep 2020 May 3;6(5):465-467. Epub 2020 May 3.

Dermatology, Centre Hospitalier Régional Universitaire Brest, Brest, France.

Br J Dermatol 2020 May 10. Epub 2020 May 10.

The Hospital for Sick Kids, 555 University Avenue, Toronto, ON, Canada, M5G 1X8.

Clin Genet 2020 Jul 7;98(1):99-101. Epub 2020 May 7.

Section of Dermatology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.

J Dermatol Sci 2020 Jun 24;98(3):163-172. Epub 2020 Apr 24.

Division of Regenerative Medicine, The Jikei University School of Medicine, Tokyo, Japan.

Background: Recessive dystrophic epidermolysis bullosa (RDEB) is a monogenic skin blistering disorder caused by mutations in the type VII collagen gene. A combination of biological technologies, including induced pluripotent stem cells (iPSCs) and several gene-editing tools, allows us to develop gene and cell therapies for such inherited diseases. However, the methodologies for gene and cell therapies must be continuously innovated for safe clinical use. Read More

Cureus 2020 Apr 2;12(4):e7508. Epub 2020 Apr 2.

Plastic and Reconstructive Surgery, Northwestern University Feinberg School of Medicine, Chicago, USA.

Epidermolysis bullosa (EB) is a rare dermatological disease in which patients suffer from skin fragility and blisters. One of the major complications is the development of skin infections, which may preclude surgical intervention. We present a case of a 49-year-old female with a past medical history of EB, who presented to the emergency department (ED) with right groin pain of one-hour duration after falling on her right side. Read More

Clin Exp Dermatol 2020 May 2. Epub 2020 May 2.

Department of Genomic Medicine and Parkville Familial Cancer Centre, Royal Melbourne Hospital, Melbourne, Australia.

Case Rep Pediatr 2020 17;2020:4206348. Epub 2020 Apr 17.

Department of Pediatrics, The University of Calgary and the Alberta Children's Hospital, Calgary, Alberta, Canada.

We report two Hong Kong children with severe generalized epidermolysis bullosa simplex (EBS), the most severe form of EBS, without a family history of EBS. EBS is a rare genodermatosis usually inherited in an autosomal dominant fashion although rare autosomal recessive cases have been reported. Genetic studies in these patients showed that the first case was due to a novel heterozygous variant, c. Read More

Transplant Proc 2020 Apr 24. Epub 2020 Apr 24.

Department of General and Transplantation Surgery, Medical University of Warsaw, Warsaw, Poland. Electronic address:

Background: Nonhealing wounds can be a major clinical problem. Impaired wound healing is often related to massive tissue injury, concomitant wound healing deficiencies (chronic wounds), burn injury, or congenital conditions. We propose a novel biological dressing as an alternative surgical approach. Read More

Transplant Proc 2020 Apr 22. Epub 2020 Apr 22.

Department of General and Transplantation Surgery, Medical University of Warsaw, Warsaw, Poland. Electronic address:

Background: Epidermolysis bullosa (EB) is a phenotypically diverse group of hereditary blistering disorders involving mutations in 20 different genes. Those debilitating disorders are currently incurable; however, there are a number of promising preclinical trials, where some treatments already approach the stage of early clinical trial. In this paper we introduce a novel surgical approach to the treatment of EB-induced ulcerations. Read More

Mol Diagn Ther 2020 Jun;24(3):299-309

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and The Joan and Joel Rosenbloom Research Center for Fibrotic Diseases, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.

Epidermolysis bullosa (EB) is a group of rare genetic disorders for which significant progress has been achieved in the development of molecular therapies in the last few decades. Such therapies require knowledge of mutant genes and specific mutations, some of them being allele specific. A relatively large number of clinical trials are ongoing and ascertaining the clinical efficacy of gene, protein or cell therapies or of repurposed drugs, mainly in recessive dystrophic EB. Read More

JAMA Dermatol 2020 Apr 22. Epub 2020 Apr 22.

Institute of Dermatology, Università Cattolica del Sacro Cuore, Milan, Italy.

Neonatal Netw 2020 Mar;39(2):83-91

Aplasia cutis congenita (ACC) is a rare condition that presents at birth as an absence of skin that does not usually involve underlying structures. Occurring in 3/10,000 live births, ACC is evenly distributed between males and females; the risk of ACC increases to 7 percent in consanguineous marriages. Up to 86 percent of lesions are found on the scalp in the midline vertex position. Read More

J Eur Acad Dermatol Venereol 2020 Apr 21. Epub 2020 Apr 21.

Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

Am J Case Rep 2020 Apr 20;21:e919432. Epub 2020 Apr 20.

Division of Dermatology, U.S. Naval Hospital Guam, Agana Heights, Guam.

BACKGROUND Epidermolysis bullosa acquisita is a rare, subepithelial bullous disorder, which is distinguished from other autoimmune blistering diseases by the production of antibodies against type VII collagen. CASE REPORT Here, we describe the case of a 79-year-old male resident of the Northern Mariana Islands who presented to the clinic with multiple blistering skin lesions. CONCLUSIONS The primary focus of treatment is to prevent disease progression and serious complications of scarring (including blindness and respiratory obstruction) by avoiding physical trauma and suppressing the immune systems with agents, including corticosteroids, colchicine, dapsone, methotrexate, and cyclophosphamide. Read More

Eur J Dermatol 2020 Apr 16. Epub 2020 Apr 16.

Department of Plastic and Regenerative Surgery, San Gallicano Dermatological Institute, IRCCS, Rome, Italy.

J Am Acad Dermatol 2020 Apr 12. Epub 2020 Apr 12.

Fundación DEBRA Chile, Francisco de Villagra 392, Ñuñoa, Santiago, Chile; Facultad de Medicina Clínica Alemana - Universidad del Desarrollo, Av. las Condes 12496, Lo Barnechea, Vitacura, Santiago, Chile.

Int J Mol Sci 2020 Apr 9;21(7). Epub 2020 Apr 9.

Medical Center for Molecular Biology, Institute for Biochemistry, Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia.

Keratins are one of the most abundant proteins in epithelial cells. They form a cytoskeletal filament network whose structural organization seriously conditions its function. Dynamic keratin particles and aggregates are often observed at the periphery of mutant keratinocytes related to the hereditary skin disorder epidermolysis bullosa simplex, which is due to mutations in keratins 5 and 14. Read More

Cell Commun Signal 2020 Apr 10;18(1):61. Epub 2020 Apr 10.

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

Background: Cutaneous squamous cell carcinomas (cSCC) are the primary cause of premature deaths in patients suffering from the rare skin-fragility disorder recessive dystrophic epidermolysis bullosa (RDEB), which is in marked contrast to the rarely metastasizing nature of these carcinomas in the general population. This remarkable difference is attributed to the frequent development of chronic wounds caused by impaired skin integrity. However, the specific molecular and cellular changes to malignancy, and whether there are common players in different types of aggressive cSCCs, remain relatively undefined. Read More

J Eur Acad Dermatol Venereol 2020 Apr 8. Epub 2020 Apr 8.

Department of dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China, 100045.

Mastocytosis is an uncommon disorder characterized by clonal proliferation of mast cells in one or more organs, including cutaneous mastocytosis limited to the skin and systemic mastocytosis involving the bone marrow, liver, spleen, or lymph nodes . Diffuse cutaneous mastocytosis (DCM) is a rare variant of cutaneous mastocytosis with an incidence of 3.57%-5. Read More

J Eur Acad Dermatol Venereol 2020 Apr 6. Epub 2020 Apr 6.

Department of Dermatology, South Infirmary Victoria University Hospital, Cork, Ireland.

Qual Life Res 2020 Jul 3;29(7):1731-1745. Epub 2020 Apr 3.

Graduate Program in Human Nutrition, Faculty of Health Science, University of Brasília, Campus Universitário Darcy Ribeiro, Brasília, Federal District, 70910-900, Brazil.

Purpose: Individuals with epidermolysis bullosa (EB) present with various clinical manifestations of different severities that affect quality of life (QoL). This systematic review synthesizes the current evidence about the QoL of individuals with EB.

Methods: We included observational studies with people of all age groups, both sexes, and any EB type. Read More

Ann Dermatol Venereol 2020 Jun - Jul;147(6-7):439-445. Epub 2020 Mar 31.

Service de dermatologie et allergologie, CHRU Nancy, 51, boulevard Albert-Premier, 54000 Nancy, France.

Background: Epidermolysis bullosa acquisita (EBA) is a rare auto-immune blistering disease. We report a case of Brunsting-Perry pemphigoid diagnosed by immunoelectron microscopy (IEM).

Patients And Methods: A 46-year-old man presented very pruriginous vesicles on the face and neck present for 6 years and which were difficult to diagnose and treat. Read More