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Epidermolysis bullosa

Helena A Jenkinson, Ashley D Lundgren, Moise L Levy, Lucia Z Diaz
Epidermolysis bullosa (EB) refers to a heterogeneous group of genetic disorders characterized by epithelial fragility. We provide guidelines for management of pediatric patients with EB in the emergency department based on a review of literature, as well as insights from our own experiences caring for patients with EB. The purpose of the guidelines proposed is prevention of avoidable iatrogenic trauma to the skin and mucosa of patients with EB who are presenting to the emergency department for a variety of reasons...
June 14, 2018: Pediatric Emergency Care
Hams Saeed Al-Zahrani, Saeed Al-Tala, Hussein Shaikh Ali Mohamoud, Bandar Ali Al-Shehri, Saeed Al-Fadhel, Ali Al-Qurashi, Ahmad Al-Bishri, Jumana Yousuf Al-Aama, Changsoo Kang, Regina C Betz, Musharraf Jelani
Non-Herlitz type of junctional epidermolysis bullosa (JEB-NH, OMIM 226650) is typically milder than Herlitz JEB (JEB-H, OMIM 226700).
June 13, 2018: Congenital Anomalies
Yang Zhang, Bin-Jin Hwang, Zhen Liu, Ning Li, Kendall Lough, Scott E Williams, Jinbo Chen, Susan W Burette, Luis A Diaz, Maureen A Su, Shengxiang Xiao, Zhi Liu
BP180, also known as collagen XVII, is a hemidesmosomal component and plays a key role in maintaining skin dermal/epidermal adhesion. Dysfunction of BP180, either through genetic mutations in junctional epidermolysis bullosa (JEB) or autoantibody insult in bullous pemphigoid (BP), leads to subepidermal blistering accompanied by skin inflammation. However, whether BP180 is involved in skin inflammation remains unknown. To address this question, we generated a BP180-dysfunctional mouse strain and found that mice lacking functional BP180 (termed Δ NC16A ) developed spontaneous skin inflammatory disease, characterized by severe itch, defective skin barrier, infiltrating immune cells, elevated serum IgE levels, and increased expression of thymic stromal lymphopoietin (TSLP)...
June 4, 2018: Proceedings of the National Academy of Sciences of the United States of America
Janelle Cyr, Annie Liu, Danny Ghazarian, Sanjay Siddha
Epidermolysis bullosa acquisita (EBA) is a rare acquired type of mechanobullous disease affecting the dermal-epidermal junction (DEJ) of trauma prone acral surfaces. It manifests as tense vesicles, bullae, and milia and typically heals as atrophic hypo- or hyperpigmented scars. Classic noninflammatory mechanobullous EBA typically presents at a mean age of 48 years. A 21-year-old man presented with a 2-year history of nonpainful papular-vesicular lesions on his hands, knees, and toes after minor trauma to these areas...
May 2018: Journal of Cutaneous Medicine and Surgery
Ángeles Mencía, Cristina Chamorro, Jose Bonafont, Blanca Duarte, Almudena Holguin, Nuria Illera, Sara G Llames, Maria José Escámez, Ingrid Hausser, Marcela Del Río, Fernando Larcher, Rodolfo Murillas
Recessive dystrophic epidermolysis bullosa is a severe skin fragility disease caused by loss of functional type VII collagen at the dermal-epidermal junction. A frameshift mutation in exon 80 of COL7A1 gene, c.6527insC, is highly prevalent in the Spanish patient population. We have implemented gene-editing strategies for COL7A1 frame restoration by NHEJ-induced indels in epidermal stem cells from patients carrying this mutation. TALEN nucleases designed to cut within the COL7A1 exon 80 sequence were delivered to primary patient keratinocyte cultures by non-integrating viral vectors...
June 1, 2018: Molecular Therapy. Nucleic Acids
Evren Gumus
No abstract text is available yet for this article.
May 24, 2018: Clinical Dysmorphology
F Ahmad, K Shah, M Umair, A Jan, Irfanullah, S Khan, D Muhammad, S Basit, S M Wakil, K Ramzan, W Ahmad
No abstract text is available yet for this article.
May 23, 2018: Clinical and Experimental Dermatology
Brendon W H Lee, Jeremy C K Tan, Melissa Radjenovic, Minas T Coroneo, Dedee F Murrell
BACKGROUND: Epidermolysis bullosa (EB) and autoimmune blistering diseases (AIBD) describe a group of rare chronic dermatoses characterized by cutaneous fragility and blistering. Although uncommon, significant ocular surface disease (OSD) may occur in both and require ophthalmological assessment. Disease scoring systems have a critical role in providing objective and accurate assessment of disease severity. The objectives of this report were, firstly, to document the prevalence and severity of ocular involvement in EB/AIBD...
May 22, 2018: Orphanet Journal of Rare Diseases
Malcolm P Chelliah, Zachary Zinn, Phoung Khuu, Joyce M C Teng
Epidermolysis bullosa is a rare blistering skin disorder that is challenging to manage because skin fragility and repeated wound healing cause itching, pain, limited mobility, and recurrent infections. Cannabidiol, an active cannabinoid found in cannabis, is postulated to have antiinflammatory and analgesic effects. We report 3 cases of self-initiated topical cannabidiol use in patients with epidermolysis bullosa in an observational study. One patient was weaned completely off oral opioid analgesics. All 3 reported faster wound healing, less blistering, and amelioration of pain with cannabidiol use...
May 22, 2018: Pediatric Dermatology
Julian Trah, Christina Has, Ingrid Hausser, Heinz Kutzner, Konrad Reinshagen, Ingo Königs
The association of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) and aplasia cutis congenita (ACC) was described by El Shafie et al. (J Pediatr Surg 14(4):446-449, 1979) and Carmi et al. (Am J Med Genet 11:319-328, 1982). Most patients die in the first weeks of life, and no curative treatment options are available so far. We describe a patient with JEB-PA and ACC (OMIM # 226730) who was treated for extensive areas of ACC by Integra® -Dermal Regeneration Template and split-thickness skin grafting (STSG)...
May 18, 2018: Dermatology and Therapy
Keith P Pasichow, Meg Frizzola, Elissa G Miller
Generalized severe junctional epidermolysis bullosa is a rare mechanobullous skin disorder that is uniformly fatal. We present the case of an infant who received palliative pain management and ultimately proportionate palliative sedation. However, because of the extent of the patient's skin disease, we were unable to provide palliative medication through parenteral routes. We discuss the provision of enteral palliative sedation, including the pharmacology, and creative use of medications to achieve sufficient palliation in this difficult and unique situation...
May 18, 2018: Journal of Palliative Medicine
S Morizane, A Kajita, K Mizuno, T Takiguchi, K Iwatsuki
BACKGROUND: Toll-like receptors (TLRs) play critical roles in innate immune response by sensing pathogen- or damage-associated molecular patterns. Epidermal keratinocytes and dermal fibroblasts also produce proinflammatory cytokines and chemokines under stimulation with TLR ligands. Serum amyloid A (SAA) is an essential factor in the pathogenesis of secondary amyloidosis, and also has immunomodulatory functions. SAA are produced mainly by hepatocytes but also by a variety of cells, including immune cells, endothelial cells, synoviocytes, and epidermal keratinocytes...
May 16, 2018: Clinical and Experimental Dermatology
Clarisse Ganier, Matthias Titeux, Sonia Gaucher, Juliette Peltzer, Marc Le Lorc'h, Jean-Jacques Lataillade, Akemi Ishida-Yamamoto, Alain Hovnanian
No abstract text is available yet for this article.
May 11, 2018: Journal of Investigative Dermatology
Ana Paula Caio Zidório, Dryelle Oliveira Dias Leão, Kenia Mara Baiocchi De Carvalho, Eliane Said Dutra
BACKGROUND: some types of epidermolysis bullosa (EB) have extracutaneous manifestations. Manifestations that limit food intake and absorption may compromise nutritional status and increasing nutritional requirements. OBJECTIVES: to investigate the following nutritional status indicators: exclusive breastfeeding duration, problems caused by the introduction of complementary foods, birth weight and length, and growth curves of children with EB. METHODS: assessment was based on the World Health Organization (WHO) growth charts...
January 19, 2018: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
Monal Kansra, V Shankar Raman, Kamal Kishore, Sanat Khanna, Bipin Puri, Abhishek Sharma
BACKGROUND: Congenital pyloric atresia (CPA) is a rare anomaly with an incidence of 1 in 100,000 live births. Depending on the type of anomaly patients can either present in the neonatal period or later in life with subtle nonspecific signs and symptoms. We present our institute's experience in handling these cases over the last decade and highlight lessons learnt. MATERIALS AND METHODS: We retrospectively reviewed records of patients diagnosed with CPA and managed at our centre between Jan 2006 to June 2016...
April 14, 2018: Journal of Pediatric Surgery
Ignacia Fuentes, Christina Guttmann-Gruber, Angeline Su Ling Tay, Josefina Piñón Hofbauer, Simon L I J Denil, Julia Reichelt, Francis Palisson, John E A Common, Andrew P South
No abstract text is available yet for this article.
May 10, 2018: Journal of Investigative Dermatology
Yanling Liao, Larisa Ivanova, Rajarajeswari Sivalenka, Trevor Plumer, Hongwen Zhu, Xiaokui Zhang, Angela M Christiano, John A McGrath, Jodi P Gurney, Mitchell S Cairo
Recessive dystrophic epidermolysis bullosa (RDEB) is a devastating inherited skin blistering disease caused by mutations in the COL7A1 gene that encodes type VII collagen (C7), a major structural component of anchoring fibrils at the dermal-epidermal junction (DEJ). We recently demonstrated that human cord blood-derived unrestricted somatic stem cells promote wound healing and ameliorate the blistering phenotype in a RDEB (col7a1-/- ) mouse model. Here, we demonstrate significant therapeutic effect of a further novel stem cell product in RDEB, that is, human placental-derived stem cells (HPDSCs), currently being used as human leukocyte antigen-independent donor cells with allogeneic umbilical cord blood stem cell transplantation in patients with malignant and nonmalignant diseases...
May 10, 2018: Stem Cells Translational Medicine
Zhiming Chen, Wenbo Bu, Suying Feng, Hongsheng Wang
Bart's syndrome (BS), characterized by aplasia cutis congenita (ACC, also called congenital localized absence of skin) and epidermolysis bullosa (EB), is diagnosed clinically based on the disorder's unique signs and symptoms. We report the case of a family, three members of which presented with ACC at birth and one had blisters on the mucous membranes. The patient was treated conservatively with topical antibacterial ointment and wet gauze dressing. Periodic follow up showed complete healing with minimal scarring...
May 3, 2018: Journal of Dermatology
Daniel C Butler
Epidermolysis bullosa acquisita (EBA) is a rare mucocutaneous blistering disorder with typical onset in adulthood. Diagnosis and management can be difficult owing to the variability in presentation and clinical manifestation. In this case, we explore a case of EBA as well as provide a general overview of the condition and its variants.
January 2018: Dermatopathology (Basel, Switzerland)
A Imbernón-Moya, R Maseda-Pedrero, M Feito, R de Lucas
No abstract text is available yet for this article.
April 23, 2018: Actas Dermo-sifiliográficas
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