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Epidermolysis bullosa

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https://www.readbyqxmd.com/read/28549954/amlexanox-enhances-premature-termination-codon-read-through-in-col7a1-and-expression-of-full-length-type-vii-collagen-potential-therapy-for-recessive-dystrophic-epidermolysis-bullosa
#1
Velina S Atanasova, Qiujie Jiang, Marco Prisco, Christina Gruber, Josefina Piñón Hofbauer, Mei Chen, Cristina Has, Leena Bruckner-Tuderman, John A McGrath, Jouni Uitto, Andrew P South
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder caused by lack of functional type VII collagen, leading to skin fragility and subsequent trauma-induced separation of the epidermis from the underlying dermis. 46% of RDEB patients 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...
May 23, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28532758/the-kelch-surprise-klhl24-%C3%A2-a%C3%A2-new%C3%A2-player-in-the-pathogenesis-of%C3%A2-skin-fragility
#2
Cristina Has
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.
June 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28525403/genetic-diseases-associated-with-an-increased-risk-of-skin-cancer-development-in-childhood
#3
Alexander L Fogel, Kavita Y Sarin, Joyce M C Teng
PURPOSE OF REVIEW: Childhood skin cancers are relatively rare and may indicate an underlying genetic disorder. The increasing elucidation of genetic pathways is changing the diagnosis and management of genetic skin cancer susceptibility syndromes. In this review, we provide an overview of genetic conditions that predispose to skin cancer development in childhood and signs that providers should assess when evaluating affected individuals. RECENT FINDINGS: In basal cell nevus syndrome (BCNS), the patched2 (PTCH2) and suppressor of fused (SUFU) genes have been implicated in disease pathogenesis...
May 18, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28523885/intraepidermal-type-vii-collagen-by-immunofluorescence-mapping-a-specific-finding-for-bullous-dermolysis-of-the-newborn
#4
Gillian Heinecke, M Peter Marinkovich, Kerri E Rieger
BACKGROUND: Bullous dermolysis of the newborn (BDN) is a subtype of dystrophic epidermolysis bullosa (DEB) characterized by skin fragility and blister formation at birth that typically resolves within the first year of life. Abnormal intraepidermal retention of type VII collagen (C7) has been reported as a characteristic feature of BDN, but few studies have investigated the specificity of this finding. METHODS: We retrospectively reviewed pathology reports of patients diagnosed with DEB using immunofluorescence mapping from January 2001 to January 2015...
May 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28507931/tranilast-can-be-a-useful-addition-to-the-limited-anti-epidermolysis-bullosa-weaponry
#5
Mohammad Mahdi Parvizi, Mohammad Reza Namazi
No abstract text is available yet for this article.
April 2017: Advanced Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/28497520/nitrous-oxide-for-procedural-analgesia-at-home-in-a-child-with-epidermolysis-bullosa
#6
Pablo Ingelmo, Andrew Wei, Gonzalo Rivera
Epidermolysis bullosa comprises a range of conditions characterized by fragile skin with painful blistering induced by minor trauma and friction. The Dowling-Meara variant is a severe form characterized by disseminated painful blistering requiring lifelong skin and wound care. The natural history of the disease is characterized by a chronic course that tends to improve with advancing age. Various multimodal analgesic strategies have been proposed for painful procedures in children with epidermolysis bullosa...
May 11, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28493971/nonsense-variant-in-col7a1-causes-recessive-dystrophic-epidermolysis-bullosa-in-central-asian-shepherd-dogs
#7
Julia Niskanen, Kati Dillard, Meharji Arumilli, Elina Salmela, Marjukka Anttila, Hannes Lohi, Marjo K Hytönen
A rare hereditary mechanobullous disorder called epidermolysis bullosa (EB) causes blistering in the skin and the mucosal membranes. To date, nineteen EB-related genes have been discovered in human and other species. We describe here a novel EB variant in dogs. Two newborn littermates of Central Asian Shepherd dogs with severe signs of skin blistering were brought to a veterinary clinic and euthanized due to poor prognosis. In post-mortem examination, the puppies were shown to have findings in the skin and the mucosal membranes characteristic of EB...
2017: PloS One
https://www.readbyqxmd.com/read/28492593/eruptive-melanocytic-nevi-during-azathioprine-therapy-for-antisynthetase-syndrome
#8
Stephanie A Steinweg, Christian R Halvorson, Grace F Kao, Sridhar Dronavalli
Eruptive melanocytic nevi (EMN) are rare multiple benign melanocytic nevi that develop within a few months. The phenomenon has been associated with a variety of dermatologic and systemic conditions, including Stevens-Johnson syndrome, toxic epidermal necrolysis, epidermolysis bullosa, Addison disease, human immunodeficiency virus infection, and internal malignancy, among others. It also is commonly attributed to medications, particularly immunosuppressive and chemotherapeutic agents. We report a case of EMN in a 50-year-old man undergoing azathioprine therapy for antisynthetase syndrome...
April 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28492031/retrospective-evidence-on-outcomes-and-experiences-of-pregnancy-and-childbirth-in-epidermolysis-bullosa-in-australia-and-new-zealand
#9
Lizbeth R A Intong, S Deanne Choi, Alexa Shipman, Yong C Kho, Shelley J E Hwang, Lesley M Rhodes, Judie R Walton, Michael G Chapman, Dédée F Murrell
BACKGROUND: Pregnancy in epidermolysis bullosa (EB) has not been comprehensively studied. OBJECTIVE: We aimed to develop a foundational database, which could provide peri-obstetric advice in EB. METHODS: Survey questionnaires were sent to obstetricians, unaffected mothers of EB babies, and mothers with EB. Results were analyzed using chi-square, Fisher exact, and t-tests. RESULTS: Out of 1346 obstetricians surveyed, 195 responded, and only 14 had encountered EB...
March 2017: International Journal of Women's Dermatology
https://www.readbyqxmd.com/read/28492007/colchicine-may-assist-in-reducing-granulation-tissue-in-junctional-epidermolysis-bullosa
#10
Minhee Kim, Swaranjali Jain, Adam G Harris, Dedee F Murrell
Epidermolysis bullosa (EB) is a rare, inherited blistering genodermatosis. Patients with junctional EB (JEB) due to LAMB3 mutations have widespread blisters and erosions of skin, mucosae, and nails, creating significant physical, emotional, and psychosocial burdens. Here we report the use of colchicine for ameliorating hypergranulating wounds in a 41-year-old female with JEB generalized intermediate. Her skin wounds and granulation tissue gradually exacerbated under silicone dressings such that she became profoundly anemic...
June 2016: International Journal of Women's Dermatology
https://www.readbyqxmd.com/read/28460207/pathomechanisms-of-altered-wound-healing-in-recessive-dystrophic-epidermolysis-bullosa
#11
REVIEW
Francesca Cianfarani, Giovanna Zambruno, Daniele Castiglia, Teresa Odorisio
Individuals with recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic skin disease, carry mutations in the COL7A1 gene that codes for type VII collagen, an extracellular matrix component of the basement membrane zone forming the anchoring fibrils. As a consequence, RDEB individuals manifest unremitting skin blistering that evolves into chronic wounds, inflammation, and fibrosis. These features play a central role in the development of more severe disease complications, such as mitten deformities of hands and feet and aggressive epithelial cancers...
April 28, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28459718/anesthetic-management-of-a-patient-with-epidermolysis-bullosa-requiring-major-orthopedic-surgery-a-case-report
#12
Kim M Strupp, Jennifer A Zieg, Brian Johnson, Judit M Szolnoki
Epidermolysis bullosa (EB) encompasses a wide spectrum of rare genetic disorders in which an abnormality in collagen leads to loss or absence of normal intracellular bridges. Friction or shear forces on the skin and mucosa result in blister, bullae, and scar formation. We present our experience in the management of a patient with EB who required multiple procedures for squamous cell carcinoma of the left arm, including forequarter amputation. We describe the anesthetic challenges in caring for a patient with EB undergoing major orthopedic surgery...
April 28, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28452792/epidermolysis-bullosa-acquisita-brunsting-perry-pemphigoid-variant-localized-to-the-face-and-diagnosed-with-antigen-identification-using-skin-deficient-in-type-vii-collagen
#13
Leila Asfour, Heung Chong, John Mee, Richard Groves, Manuraj Singh
Brunsting-Perry pemphigoid is defined as an autoimmune vesiculobullous eruption typically localized on the head and neck region with minimal or no mucosal involvement. The disease tends to run a chronic and recurrent course with residual scarring. Histological features are characterized by subepidermal bullae and linear IgG deposits at the dermo-epidermal junction. We report a case of a 46-year-old lady who presented with typical features of Brunsting-Perry pemphigoid. Autoantibodies to type VII collagen were identified by using recessive dystrophic epidermolysis bullosa skin which lacks type VII collagen in an indirect immunofluorescence assay...
April 12, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28442525/korean-monozygotic-twins-with-lethal-acantholytic-epidermolysis-bullosa-caused-by-two-novel-dsp-mutations
#14
Se Jin Kim, Jung Min Ko, Seung Han Shin, Ee-Kyung Kim, Han-Suk Kim, Kyung-A Lee
Desmoplakin is an essential cytoplasmic plaque protein in desmosomes, and it is the major linker between intercellular junctions in the skin and heart. The role of desmoplakin is anchoring transmembrane cadherins to cytoplasmic intermediate filaments. The desmoplakin gene (DSP) is located on chromosome 6, and six common allelic disorders are associated with this gene, including autosomal-dominant or -recessive disorders that affect the skin, heart, hair, and nails. In particular, lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessively inherited and extremely rare genetic skin disorder, and only three molecularly confirmed families with LAEB have been reported previously...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28432467/renal-skin-syndromes
#15
REVIEW
Cristina Has, Yinghong He
Renal-skin syndroms are a group of genetic disorders with renal and cutaneous manifestations that target molecular components present in both organs. Inherited renal-skin syndromes are mainly associated with defects of cell-matrix adhesion. We provide a non-exhaustive overview of the main molecular players at cell-matrix adhesions in mouse models and in human genetic disorders affecting kidney and skin. Renal and urinary tract involvement is described in all four major epidermolysis bullosa types and, in particular, in junctional subtypes and in recessive dystrophic epidermolysis bullosa...
April 22, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28426906/measuring-the-impact-of-dermatological-conditions-on-family-and-caregivers-a-review-of-dermatology-specific-instruments
#16
REVIEW
F Sampogna, A Y Finlay, S S Salek, P Chernyshov, F J Dalgard, A W M Evers, D Linder, L Manolache, S E Marron, F Poot, S Spillekom-van Koulil, Å Svensson, J C Szepietowski, L Tomas-Aragones, D Abeni
The patient is the centre of a web of relationships and the impact of his/her disease on family members and caregivers must be taken into account. The aim of this study was to identify the specific instruments that measure the impact of a dermatological disease on the quality of life (QoL) of family members, by performing a systematic search of the literature. Fifteen papers were identified, describing the creation and validation of nine instruments. Four of them concerned atopic dermatitis (Dermatitis Family Index, DFI; Parents' Index QoL Atopic Dermatitis, PiQoL-AD; QoL in Primary Caregivers of children with Atopic Dermatitis, QPCAD; Childhood Atopic Dermatits Impact Scale, CADIS), two measured the impact of psoriasis in family members (Psoriasis Family Index, PFI; FamilyPso), one the impact of epidermolysis bullosa (Epidermolysis Bullosa Burden of Disease, EB-BoD), one of ichthyosis (Family Burden Ichthyosis, FBI), and one was generic for dermatological conditions (Family Dermatology Life Quality Index, FDLQI)...
April 20, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28425690/what-s-new-with-common-genetic-skin-disorders
#17
Janice E Ma, Jennifer L Hand
Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated...
April 20, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28425111/-nails-only-phenotype-and-partial-dominance-of-p-glu170lys-mutation-in-a-family-with-epidermolysis-bullosa-simplex
#18
Álvaro González-Cantero, Ana Isabel Sánchez-Moya, Cristina Pérez-Hortet, Elena Martínez-Lorenzo, Blas Gómez-Dorado, Cristina Schoendorff-Ortega
Epidermolysis bullosa (EB) is a heterogeneous group of rare, chronic, inherited skin disorders characterized by marked mechanical fragility of epithelial tissues, with blistering and erosions after minor trauma. We present the first report of a nails-only phenotype in two patients with epidermolysis bullosa simplex (EBS) and a heterozygous pGlu170Lys mutation and the second reported case of EBS associated with a homozygous p.Glu170Lys mutation in the KRT5 gene. Our findings may be relevant for genetic counseling and for understanding the inheritance pattern of EBS...
April 19, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28400893/epidermolysis-bullosa-simplex-with-muscular-dystrophy-review-of-the-literature-and-a-case-report
#19
REVIEW
Jana Kyrova, Lenka Kopeckova, Hana Buckova, Lenka Mrazova, Karel Vesely, Marketa Hermanova, Hana Oslejskova, Lenka Fajkusova
BACKGROUND: Epidermolysis bullosa simplex associated with muscular dystrophy is a genetic skin disease caused by plectin deficiency. A case of a 19-year-old Czech patient affected with this disease and a review all previously published clinical cases are presented. MAIN OBSERVATIONS: In our patient, skin signs of the disease developed after birth. Bilateral ptosis at the age of 8 years was considered as the first specific symptom of muscular dystrophy. Since then, severe scoliosis, urological and psychiatric complication have quickly developed...
November 30, 2016: Journal of Dermatological Case Reports
https://www.readbyqxmd.com/read/28395376/-rehabilitation-of-children-and-adolescents-with-chronic-skin-diseases
#20
R Stachow, M Küppers-Chinnow, S Scheewe
Chronic skin diseases are a common indication for inpatient rehabilitation in children and adolescents. Atopic eczema and psoriasis play the most important role. But other rare congenital dermatoses such as ichthyoses or epidermolysis bullosa can also be rehabilitated. Patients with skin diseases are often considerably stigmatized and report a limited quality of life and participation. The somatic and psychosocial development of the children is also often severely affected by severe forms of the diseases. The concept of inpatient rehabilitation is, on the one hand, the development of an individually adapted topical therapy plan, which often follows a step concept and is adapted to the severity of the skin symptoms...
April 2017: Die Rehabilitation
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