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Hailey hailey disease

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https://www.readbyqxmd.com/read/28551824/the-role-of-the-atp2c1-gene-in-hailey-hailey-disease
#1
REVIEW
Hao Deng, Heng Xiao
Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis, characterized by a chronic course of repeated and exacerbated skin lesions in friction regions. The pathogenic gene of HHD was reported to be the ATPase calcium-transporting type 2C member 1 gene (ATP2C1) located on chromosome 3q21-q24. Its function is to maintain normal intracellular concentrations of Ca(2+)/Mn(2+) by transporting Ca(2+)/Mn(2+) into the Golgi apparatus. ATP2C1 gene mutations are reportedly responsible for abnormal cytosolic Ca(2+)/Mn(2+) levels and the clinical manifestations of HHD...
May 27, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28541878/dermatosis-papular-acantol%C3%A3-tica-de-la-vulva-con-buena-respuesta-a-tacr%C3%A3-limus-t%C3%A3-pico
#2
Miguel Angel Flores-Terry, Pamela Zamberk Majlis, Monserrat Franco-Muñoz, Elena Vera-Iglesias, Mónica García-Arpa, Francisco Martín-Dávila
Papular acantholytic dermatosis of the vulva is a rare, chronic disorder and is an entity that remains to be fully understood. It shares clinical and histopathological overlap with Darier disease and Hailey-Hailey disease. We describe a 30-year-old woman with papular acantholytic dermatosis of the vulva. The lesions consisted of whitish papules and erosions on the labia majora. Histologically, there was hyperkeratosis and focal parakeratosis with acantholytic and dyskeratotic cells. She did not respond completely to topical steroids but clinical improvement occurred after the use of topical tacrolimus...
April 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28514664/lack-of-mttp-activity-in-pluripotent-stem-cell-derived-hepatocytes-and-cardiomyocytes-abolishes-apob-secretion-and-increases-cell-stress
#3
Ying Liu, Donna M Conlon, Xin Bi, Katherine J Slovik, Jianting Shi, Hailey I Edelstein, John S Millar, Ali Javaheri, Marina Cuchel, Evanthia E Pashos, Jahangir Iqbal, M Mahmood Hussain, Robert A Hegele, Wenli Yang, Stephen A Duncan, Daniel J Rader, Edward E Morrisey
Abetalipoproteinemia (ABL) is an inherited disorder of lipoprotein metabolism resulting from mutations in microsomal triglyceride transfer protein (MTTP). In addition to expression in the liver and intestine, MTTP is expressed in cardiomyocytes, and cardiomyopathy has been reported in several ABL cases. Using induced pluripotent stem cells (iPSCs) generated from an ABL patient homozygous for a missense mutation (MTTP(R46G)), we show that human hepatocytes and cardiomyocytes exhibit defects associated with ABL disease, including loss of apolipoprotein B (apoB) secretion and intracellular accumulation of lipids...
May 16, 2017: Cell Reports
https://www.readbyqxmd.com/read/28507500/the-coexistence-of-darier-s-disease-and-hailey-hailey-disease-symptoms
#4
Katarzyna A Tomaszewska, Zofia Gerlicz-Kowalczuk, Magdalena Kręgiel, Marcin Noweta, Katarzyna Płużańka-Srebrzyńska, Anna Żuchowska, Andrzej Kaszuba
No abstract text is available yet for this article.
April 2017: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/28475517/hailey-hailey-disease-with-coexistent-herpes-virus-infection-insights-into-the-diagnostic-conundrum-of-herpetic-pseudoherpetic-features-in-cutaneous-acantholytic-disorders
#5
Claire S Leitch, Anusha P Panthagani, Michael J Tidman, Asok Biswas
The specific histopathologic diagnosis of a primary acantholytic disorder takes into account the distribution and extent of acantholysis, presence or absence of dyskeratosis, nature of the dermal inflammatory cell infiltrate, and immunofluorescence findings. Herpes virus infection is a common cause of secondary acantholysis where distinctive viral cytopathic changes aid in making it a clear-cut diagnosis in majority of cases. We present a case of coexistence of Hailey-Hailey disease and herpes simplex virus infection to compare and contrast their histopathologic features...
April 25, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28471236/a-study-of-clinical-histopathological-and-direct-immunofluorescence-diagnosis-in-pemphigus-group-utility-of-direct-immunofluorescence
#6
Z Hrabovska, J Jautova, V Hrabovsky
AIMS: To determine the diagnostic accordance between histopathological and direct immunofluorescence diagnosis of patients with autoimmune vesiculobullous skin diseases. BACKGROUND: The term pemphigus refers to a group of autoimmune blistering diseases mediated by auto-antibodies directed against desmoglein proteins. The differentiation between the various bullous diseases is important for treatment and prognosis. Direct immunofluorescence microscopy is still the gold standard in differentiating these diseases...
2017: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/28395432/-clinicopathological-features-of-acantholytic-mammary-paget-s-disease-a-report-of-28-cases
#7
Y P Zeng, C Chen, K Fang, Q N Jia, D L Ma
Objective: To investigate the clinicopathological features of acantholytic mammary Paget's disease (AMPD). Methods: From January, 2010 to October, 2016, a total of 28 patients were diagnosed as AMPD in the Department of Dermatology, Peking Union Medical College Hospital. The clinical and histopathological data of these patients were analyzed retrospectively. Results: The patients were all female. The mean age of onset was (51±15)years (range, 24 to 78 years). The median course of disease was 10.5 months (range, 3 months to 2 years)...
April 11, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28326204/an-unusual-location-of-subungual-warty-dyskeratoma-a-case-report-and-review-of-the-literature
#8
Elena Vargas-Laguna, Adrián Imbernón-Moya, Antonio Aguilar-Martínez, Fernando Burgos
Warty dyskeratoma is an uncommon entity characterized by a solitary keratotic papule or nodule usually located in the head and neck of young adults. The histopathology shows a pattern of acantholytic dyskeratosis. We report a 32-year-old man who presented pain, serous exudation, a distal onycholysis with subungual hyperkeratosis, and roundish erythronychia in the nail plate of his left first toe 2 years ago. A histopathologic diagnosis of subungual warty dyskeratoma was made. When dealing with focal acantholytic dyskeratosis several differential diagnoses should be considered including Darier's disease, transient focal acantholytic dyskeratosis or Grover disease, and Hailey-Hailey disease...
2017: Case Reports in Dermatological Medicine
https://www.readbyqxmd.com/read/28301978/is-photodynamic-therapy-a-relevant-therapeutic-option-in-refractory-benign-familial-pemphigus-hailey-hailey-disease-a-series-of-eight-patients
#9
Maha Alsahli, Anca Debu, Celine Girard, Didier Bessis, Aurélie Du Thanh, Bernard Guillot, Olivier Dereure
INTRODUCTION/BACKGROUND: Treatment of benign familial pemphigus or Hailey-Hailey disease (HHD), a rare inherited condition associated with a significant impairment of quality of life, is often challenging and disappointing with frequent relapses and infectious complications. Topical photodynamic therapy (PDT) may offer new perspectives in this difficult setting. MATERIAL AND METHODS: Eight patients with long-lasting HHD lesions refractory to multiple treatments were treated on at least one involved site with PDT using methyl-amino levulinate with a standardized protocol of three sessions of irradiation separated by 3-week intervals...
April 2, 2017: Journal of Dermatological Treatment
https://www.readbyqxmd.com/read/28300154/corrigendum-the-loss-of-atp2c1-impairs-the-dna-damage-response-and-induces-altered-skin-homeostasis-consequences-for-epidermal-biology-in-hailey-hailey-disease
#10
Samantha Cialfi, Loredana Le Pera, Carlo De Blasio, Germano Mariano, Rocco Palermo, Azzurra Zonfrilli, Daniela Uccelletti, Claudio Palleschi, Gianfranco Biolcati, Luca Barbieri, Isabella Screpanti, Claudio Talora
No abstract text is available yet for this article.
March 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28282438/a-new-caenorhabditis-elegans-model-of-human-huntingtin-513-aggregation-and-toxicity-in-body-wall-muscles
#11
Amy L Lee, Hailey M Ung, L Paul Sands, Elise A Kikis
Expanded polyglutamine repeats in different proteins are the known determinants of at least nine progressive neurodegenerative disorders whose symptoms include cognitive and motor impairment that worsen as patients age. One such disorder is Huntington's Disease (HD) that is caused by a polyglutamine expansion in the human huntingtin protein (htt). The polyglutamine expansion destabilizes htt leading to protein misfolding, which in turn triggers neurodegeneration and the disruption of energy metabolism in muscle cells...
2017: PloS One
https://www.readbyqxmd.com/read/28264934/structure-activity-relationship-of-thapsigargin-inhibition-on-the-purified-golgi-secretory-pathway-ca-2-mn-2-transport-atpase-spca1a
#12
Jialin Chen, Joren De Raeymaecker, Jannik Brøndsted Hovgaard, Susanne Smaardijk, Ilse Vandecaetsbeek, Frank Wuytack, Jesper Vuust Møller, Jan Eggermont, Marc De Maeyer, Søren Brøgger Christensen, Peter Vangheluwe
The Golgi/secretory pathway Ca(2+)/Mn(2+)-transport ATPase (SPCA1a) is implicated in breast cancer and Hailey-Hailey disease. Here, we purified recombinant human SPCA1a from Saccharomyces cerevisiae and measured Ca(2+)-dependent ATPase activity following reconstitution in proteoliposomes. The purified SPCA1a displays a higher apparent Ca(2+) affinity and a lower maximal turnover rate than the purified sarco(endo)plasmic reticulum Ca(2+)-ATPase (SERCA1a). The lipids cholesteryl hemisuccinate, linoleamide/oleamide, and phosphatidylethanolamine inhibit and phosphatidic acid and sphingomyelin enhance SPCA1a activity...
April 28, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28260304/-clinicopathological-study-of-56-cases-of-extramammary-paget-s-disease-with-or-without-acantholysis
#13
Y P Zeng, C Chen, K Fang, Q N Jia, D L Ma
Objective: To identify the clinicopathological features of extramammary Paget's disease(EMPD) and investigate the clinical and histopathological significance of acantholysis in EMPD. Methods: From June, 2010 to October, 2016, a total of 56 patients were diagnosed as EMPD in the Department of Dermatology, Peking Union Medical College Hospital. Clinical and histopathological data were retrieved from these patients' medical records and analyzed respectively. The cases were divided into two subgroups according to the histopathological pattern (with or without acantholysis): the acantholytic EMPD (AEMPD) group and the non-acantholytic EMPD (N-AEMPD) group...
February 28, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28256765/mimickers-of-classic-acantholytic-diseases
#14
REVIEW
Jonathan Ho, Jag Bhawan
Acantholysis is a commonly encountered histological pattern which typically generates a differential of the pemphigus variants, Hailey-Hailey, Darier's and Grover's diseases. In addition to these diseases, the dermatologist and dermatopathologist must be aware of entities that mimic classic acantholytic dermatoses and of rare disease variants, which are characterized by acantholysis.
March 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28223763/the-effect-of-cryotherapy-in-hailey-hailey-disease
#15
Jee Hee Son, Yong Se Cho, Yun Sun Byun, Bo Young Chung, Chun Wook Park, Hye One Kim
No abstract text is available yet for this article.
February 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/28108048/bullous-pseudobullous-pustular-dermatoses
#16
REVIEW
Mark R Wick
Several dermatoses are typified by the formation of spaces (blisters; bullae) within or beneath the epidermis. These may be acellular or filled with particular species of inflammatory cells. Etiological categories include infectious, immune-mediated, genetic, drug-related, and idiopathic lesions. Examples of such disorders include impetigo, Herpes virus infections, pemphigus, bullous pemphigoid and pemphigoid gestationis, epidermolysis bullosa acquisita, IgA-related dermatoses, inherited epidermolysis bullosa variants, Hailey-Hailey disease, and porphyria cutanea tarda...
May 2017: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28104789/a-novel-humanized-mouse-model-of-huntington-disease-for-preclinical-development-of-therapeutics-targeting-mutant-huntingtin-alleles
#17
Amber L Southwell, Niels H Skotte, Erika B Villanueva, Michael E Østergaard, Xiaofeng Gu, Holly B Kordasiewicz, Chris Kay, Daphne Cheung, Yuanyun Xie, Sabine Waltl, Louisa Dal Cengio, Hailey Findlay-Black, Crystal N Doty, Eugenia Petoukhov, Diepiriye Iworima, Ramy Slama, Jolene Ooi, Mahmoud A Pouladi, X William Yang, Eric E Swayze, Punit P Seth, Michael R Hayden
Huntington disease (HD) is a neurodegenerative disease caused by a mutation in the huntingtin (HTT) gene. HTT is a large protein, interacts with many partners and is involved in many cellular pathways, which are perturbed in HD. Therapies targeting HTT directly are likely to provide the most global benefit. Thus there is a need for preclinical models of HD recapitulating human HTT genetics. We previously generated a humanized mouse model of HD, Hu97/18, by intercrossing BACHD and YAC18 mice with knockout of the endogenous mouse HD homolog (Hdh)...
March 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087023/dermoscopic-presentation-of-hailey-hailey-disease
#18
Awatef Kelati, Giuseppe Argenziano, Fatima Zahra Mernissi
No abstract text is available yet for this article.
February 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28063031/pharmacokinetics-and-pharmacodynamics-of-afamelanotide-and-its-clinical-use-in-treating-dermatologic-disorders
#19
REVIEW
Elisabeth I Minder, Jasmin Barman-Aksoezen, Xiaoye Schneider-Yin
Afamelanotide, the first α-melanocyte-stimulating hormone (MSH) analogue, synthesized in 1980, was broadly investigated in all aspects of pigmentation because its activity and stability were higher than the natural hormone. Afamelanotide binds to the melanocortin-1 receptor (MC1R), and MC1R signaling increases melanin synthesis, induces antioxidant activities, enhances DNA repair processes and modulates inflammation. The loss-of-function variants of the MC1R present in fair-skinned Caucasians are less effectively activated by the natural hormone...
January 6, 2017: Clinical Pharmacokinetics
https://www.readbyqxmd.com/read/28052370/acantholytic-dermatosis-of-the-vagina-the-diagnostic-challenge-of-acantholytic-disease-in-the-genital-region
#20
J Kentley, R Cerio, M Khorshid, K Gibbon
We report the case of a 24-year-old woman with an 8-month history of deep pelvic pain and postcoital bleeding. Examination revealed desquamation of the vaginal epithelium with tender fissured plaques in the vagina, initially thought to be vaginal intraepithelial neoplasia. Histology showed squamous mucosa with suprabasal acantholysis and hyperkeratosis, and no evidence of viral infection, dysplasia or malignancy. These findings were consistent with acantholytic dermatosis (AD), a rare lesion that resembles Hailey-Hailey and Darier disease histopathologically, but can be distinguished on a clinical basis...
January 4, 2017: Clinical and Experimental Dermatology
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