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Skin fragility

Naotaka Ishiguro, Yasuo Inoshima, Motoki Sasaki
A Canis skull, right half of the mandible and part of the left half of the mandible were subjected to three-dimensional (3D) computed tomography (CT) observation and mitochondrial DNA (mtDNA) analysis in order to determine whether the specimens belonged to the extinct Japanese wolf, Canis lupus hodophilax (Temminck, 1839). Osteometric analysis of the skull and right half of the mandible revealed that the material (JW275) was indeed typical of the Japanese wolf. Sequence analysis of a 600-bp mtDNA region revealed that the JW275 belonged to haplotype Group B, which is characterized by an 8-bp deletion in the mtDNA control region...
October 15, 2016: Journal of Veterinary Medical Science
Ines Kapferer-Seebacher, Melanie Pepin, Roland Werner, Timothy J Aitman, Ann Nordgren, Heribert Stoiber, Nicole Thielens, Christine Gaboriaud, Albert Amberger, Anna Schossig, Robert Gruber, Cecilia Giunta, Michael Bamshad, Erik Björck, Christina Chen, David Chitayat, Michael Dorschner, Marcus Schmitt-Egenolf, Christopher J Hale, David Hanna, Hans Christian Hennies, Irene Heiss-Kisielewsky, Anna Lindstrand, Pernilla Lundberg, Anna L Mitchell, Deborah A Nickerson, Eyal Reinstein, Marianne Rohrbach, Nikolaus Romani, Matthias Schmuth, Rachel Silver, Fulya Taylan, Anthony Vandersteen, Jana Vandrovcova, Ruwan Weerakkody, Margaret Yang, F Michael Pope, Peter H Byers, Johannes Zschocke
Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. A locus was mapped to an approximately 5.8 Mb region at 12p13.1 but no candidate gene was identified. In an international consortium we recruited 19 independent families comprising 107 individuals with pEDS to identify the locus, characterize the clinical details in those with defined genetic causes, and try to understand the physiological basis of the condition...
September 27, 2016: American Journal of Human Genetics
N Malchin, O Sarig, M Grafi-Cohen, S Geller, I Goldberg, A Shani, A Gat, E Sprecher, J Mashiah
Epidermolysis bullosa simplex (EBS) is the most common form of EB. Eight different genes have been implicated in the pathogenesis of different types of EBS, but a substantial portion of the cases cannot be attributed to mutations in known genes. Recently, recessive mutations in the gene EXPH5 (encoding exophilin-5, also known as Slac2-b) were identified in patients affected with a mild form of EBS. We used immunohistochemistry, Sanger sequencing and PCR-restriction fragment length polymorphism analysis to identify the cause of mild congenital skin fragility in a 3-year-old girl...
October 11, 2016: Clinical and Experimental Dermatology
Xiaoling Zhang, Suju Luo, Joseph Wu, Long Zhang, Wen-Hui Wang, Simone Degan, Detlev Erdmann, Russell Hall, Jennifer Y Zhang
Loss-of-function of KIND1, a cytoskeletal protein involved in β1-integrin function, causes Kindler Syndrome (KS), a genetic disease characterized by skin fragility, photosensitivity and increased risk of squamous cell carcinoma (SCC). Dysregulation of β1-integrin underlies KS skin fragility. However, the mechanisms underlying SCC susceptibility are unclear. Here, we demonstrate that gene silencing of KIND1 decreased keratinocyte proliferation and increased apoptosis in vitro and in skin grafts regenerated on mice, which was correlated with reduced cyclinB1...
October 7, 2016: Journal of Investigative Dermatology
Elisa Adele Colombo, Luigina Spaccini, Ludovica Volpi, Gloria Negri, Davide Cittaro, Dejan Lazarevic, Salvatore Zirpoli, Andrea Farolfi, Cristina Gervasini, Maria Vittoria Cubellis, Lidia Larizza
BACKGROUND: Integrin α3 (ITGA3) gene mutations are associated with Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa (ILNEB syndrome). To date only six patients are reported: all carried homozygous ITGA3 mutations and presented a dramatically severe phenotype leading to death before age 2 years, from multi-organ failure due to interstitial lung disease and congenital nephrotic syndrome. The involvement of skin and cutaneous adnexa was variable with sparse hair and nail dysplasia combined or not to skin lesions ranging from skin fragility to epidermolysis bullosa-like blistering...
October 7, 2016: Orphanet Journal of Rare Diseases
Matthew J Eagleton
BACKGROUND: Vascular Ehlers-Danlos syndrome (EDS) is a relatively rare genetic syndrome that occurs owing to disorders in the metabolism of fibrillary collagen. These defects affect the soft connective tissues resulting in abnormalities in the skin, joints, hollow organs, and blood vessels. Patients with these defects frequently present at a young age with spontaneous arterial complications involving the medium-sized arteries. Complications involving the hollow organs, such as spontaneous colonic perforation, are observed as well...
September 26, 2016: Journal of Vascular Surgery
S M C George, A Vandersteen, E Nigar, D J P Ferguson, E J Topham, F M Pope
Ehlers-Danlos syndrome (EDS) encompasses a genetically and clinically heterogeneous group of connective tissue disorders, characterized by joint hypermobility, skin hyperextensibility and tissue fragility. It is a rare condition, and inheritance is either autosomal dominant or recessive. Previously grouped into 11 different subtypes, with increasing knowledge of the underlying molecular defects, it was reclassified in 1997 into 6 major groups, with type VIII excluded from this classification. Type VIII EDS is a very rare subtype, characterized by severe, early-onset periodontitis, skin fragility and abnormal scarring...
October 2016: Clinical and Experimental Dermatology
Ademar Caldeira, William Correia Trinca, Thais Pires Flores, Andrea Barleze Costa, Claudio de Sá Brito, Karen Loureiro Weigert, Maryana Schwartzhaupt Matos, Carmela Nicolini, Fernando Mariano Obst
Kindler syndrome1, 2 is a genetic disorder mainly characterized by increased skin fragility and photosensitivity,3, 4 making the use of treatments based on radiation difficult or even prohibited. Thus, cases reporting Kindler syndrome patients treated with radiotherapy are rare. In this study, we report clinical outcomes and care provided for a rare case of a Kindler syndrome patient submitted to radiotherapy. Diagnosed with squamous cell carcinoma involving the buccal mucosa, the patient was exclusively treated with radiotherapy, with 70 Gy delivered on the PTV with the Volumetric Modulated Arc technique...
November 2016: Reports of Practical Oncology and Radiotherapy
Justine Hugon-Rodin, Géraldine Lebègue, Stéphanie Becourt, Claude Hamonet, Anne Gompel
BACKGROUND: Hypermobile Ehlers-Danlos syndrome (hEDS), is probably the most common disease among heritable connective tissue disorders. It affects women more than men and causes symptoms in multiple organs. It is associated with chronic pain, skin fragility and abnormal bleeding. These characteristics may hamper reproductive life. We conducted a study to evaluate the gynecologic and obstetric outcomes in women with hEDS. We also explored a possible hormonal modulation of the hEDS symptoms...
2016: Orphanet Journal of Rare Diseases
Media Esser
BACKGROUND/INTRODUCTION TO CASE: Neonatal wound care is challenging due to the fragility and vulnerable skin structure. Neonates are often left susceptible to the forces of their environment, leaving them open to infection when skin injury occurs. Leptospermum honey has been used successfully in adult patients, with evidence lacking in the neonatal population. This case demonstrates the management of a difficult-to-heal wound in a 23-week gestation infant. PURPOSE: Selecting the proper treatment and products for wound healing is challenging, with little evidence-based research available for the treatment of neonatal wounds...
September 8, 2016: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
Takuji Masunaga, Junki Ogawa, Masashi Akiyama, Takeji Nishikawa, Hiroshi Shimizu, Akira Ishiko
Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a rare congenital bullous disease with gastrointestinal disturbance that has been associated with mutations in ITGA6 or ITGB4 encoding the α6 or β4 subunit of integrin, respectively. Only six ITGA6 mutations in PA-JEB have been reported while many ITGB4 mutations have been identified, and all the ITGA6 mutations were homozygous. Here, we report a case of lethal type PA-JEB, in which immunofluorescence showed the lack of both α6 and β4 integrins resulting from compound heterozygous splice site mutation in ITGA6, c...
September 8, 2016: Journal of Dermatology
C Goullet de Rugy, I Lazareth, C You, A Stansal, P Priollet
In vascular medicine, wound care requires pluridisciplinary expertise and nursing skill. Care must be perfectly adapted to each individual patient, the specificities of each particular wound, and the underlying vascular disease. The goal is to achieve wound healing. Inappropriate care can retard healing or even aggravate the wound. The skin should be cleaned with water a non-allergic detergent and should concern the entire limb in addition to the wound itself. Fibrin or necrosis detersion is an important step that can be painful...
September 2016: Journal des Maladies Vasculaires
Moeko Hidaka, Kazumasa Horikawa, Tomoko Akase, Hiroko Makihara, Takatoshi Ogami, Hiroshi Tomozawa, Masahito Tsubata, Ai Ibuki, Yutaka Matsumoto
Obesity results from excessive energy intake and physical inactivity, and predisposes one to various diseases. One of these reasons is that enlargement of adipocytes raises the lipid metabolic abnormalities that affect various organs. The skin is one such organ, and it has been reported that subcutaneous adipocyte cells secrete various factors and these factors are involved in reduction of dermal collagen fibers and fragility of the skin in obesity. The present study explored the efficacy of Kaempferia parviflora (KP) in preventing obesity-induced dermatopathy...
September 3, 2016: Journal of Natural Medicines
Artem Vorobyev, Ralf J Ludwig, Enno Schmidt
INTRODUCTION: Epidermolysis bullosa acquisita (EBA) is a rare autoimmune blistering disease of skin and mucous membranes. EBA is caused by autoantibodies against type VII collagen, which is a major component of anchoring fibrils, attaching epidermis to dermis. Binding of autoantibodies to type VII collagen leads to skin fragility and, finally, blister formation. The clinical picture of EBA is polymorphic, with several distinct phenotypes being described. Despite recent progress in understanding the pathophysiology of EBA, its diagnosis is still challenging...
September 8, 2016: Expert Review of Clinical Immunology
H Montaudié, C Chiaverini, E Sbidian, A Charlesworth, J-P Lacour
BACKGROUND: Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by exacerbated skin and/or mucosal fragility and blister formation after minor mechanical trauma. Level of cleavage in the skin, clinical features with immunofluorescence antigen mapping and/or electron microscopy examination of a skin biopsy and/or gene involved, type(s) of mutation present and sometimes specific mutation(s), allow to define the EB type and subtype. This family of genodermatoses exposes patients to several complications, cutaneous squamous cell carcinoma (cSCC) being the most severe of them...
2016: Orphanet Journal of Rare Diseases
Jouni Uitto, Cristina Has, Hassan Vahidnezhad, Leila Youssefian, Leena Bruckner-Tuderman
Epidermolysis bullosa (EB), a phenotypically heterogeneous group of skin fragility disorders, is characterized by blistering and erosions with considerable morbidity and mortality. Mutations in as many as 18 distinct genes expressed at the cutaneous basement membrane zone have been shown to be associated with the blistering phenotype, attesting to the role of the corresponding proteins in providing stable association of the epidermis to the dermis through adhesion at the dermo-epidermal basement membrane zone...
August 2, 2016: Matrix Biology: Journal of the International Society for Matrix Biology
Diana Reppucci, Debra Medin, Suhail Al-Saleh, Mary Jane Smith, Jill Barter, Reshma Amin
We present a case of a 15-month-old boy with Cornelia de Lange Syndrome (NIPBL gene mutation). On a PSG, central sleep apnea (central apnea-hypopnea index of 19/hour) and nocturnal hypoventilation (transcutaneous CO2 > 50 mmHg for 53% of the night) were found. A positive pressure initiation study was aborted because the patient developed a serious adverse reaction. The differential diagnosis included a skin fragility condition versus an allergic contact dermatitis to the interface; this could be from the povidone-iodine solution used to clean the NiPPV interface or from the plastic of the interface itself...
2016: Canadian Respiratory Journal: Journal of the Canadian Thoracic Society
B Tockner, T Kocher, S Hainzl, J Reichelt, J W Bauer, U Koller, E M Murauer
RNA trans-splicing has become a versatile tool in the gene therapy of monogenetic diseases. This technique is especially valuable for the correction of mutations in large genes such as COL7A1, which underlie the dystrophic subtype of the skin blistering disease epidermolysis bullosa. Over 800 mutations spanning the entire length of the COL7A1 gene have been associated with defects in type VII collagen, leading to excessive fragility of epithelial tissues, the hallmark of dystrophic epidermolysis bullosa (DEB)...
August 11, 2016: Gene Therapy
Abir Zainal, Mahmoud Nidal Hamad, Syed Yaseen Naqvi
Ehlers-Danlos syndrome (EDS) is a group of heritable disorders characterised by vast clinical heterogeneity ranging from the classic constellation of symptoms including skin hyperextensibility, joint hypermobility and skin fragility to the exceedingly critical consequences of arterial rupture and visceral perforation. We describe the case of a 65-year-old male with a history of classic EDS who reported of dyspnoea on exertion, orthopnoea, fatigue and palpitations. He was found to have dilated cardiomyopathy with an ejection fraction of 35%, aortic root dilation and severe aortic valve regurgitation...
2016: BMJ Case Reports
Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Ankit Verma, Sreelata Nair, Rowmika Ravi, Vigneshwar Senthivel, Sridhar Sivasubbu, Vinod Scaria
Dystrophic epidermolysis bullosa simplex (DEB) is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy. DEB can be inherited in a recessive or dominant form and the recessive form of DEB (RDEB) is more severe. In the present study, we identify a novel p.G2254fs mutation in COL7A1 gene causing a sporadic case of RDEB by whole exome sequencing (WES)...
2016: F1000Research
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