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Hailey hailey disease

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https://www.readbyqxmd.com/read/28223763/the-effect-of-cryotherapy-in-hailey-hailey-disease
#1
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
#2
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...
December 14, 2016: 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
#3
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, William X 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)...
January 18, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087023/dermoscopic-presentation-of-hailey-hailey-disease
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/28035777/mendelian-disorders-of-cornification-caused-by-defects-in-intracellular-calcium-pumps-mutation-update-and-database-for-variants-in-atp2a2-and-atp2c1-associated-with-darier-disease-and-hailey-hailey-disease
#7
Ruud G L Nellen, Peter M Steijlen, Maurice A M van Steensel, Maaike Vreeburg, Jorge Frank, Michel van Geel
The two disorders of cornification associated with mutations in genes coding for intracellular calcium pumps are Darier Disease (DD) and Hailey-Hailey Disease (HHD). DD is caused by mutations in the ATP2A2 gene, while the ATP2C1 gene is associated with HHD. Both are inherited as autosomal dominant traits. DD is mainly defined by warty papules in seborrheic and flexural areas, whereas the major symptoms of HHD are vesicles and erosions in flexural skin. Both phenotypes are highly variable. In 12- 40% of DD patients and 12-55% of HHD patients, no mutations in ATP2A2 or ATP2C1 are found...
December 30, 2016: Human Mutation
https://www.readbyqxmd.com/read/27943680/progression-of-lung-disease-in-preschool-patients-with-cystic-fibrosis
#8
Sanja Stanojevic, Stephanie D Davis, George Retsch-Bogart, Hailey Webster, Miriam Davis, Robin C Johnson, Renee Jensen, Maria Ester Pizarro, Mica Kane, Charles C Clem, Leah Schornick, Padmaja Subbarao, Felix A Ratjen
RATIONALE: Implementation of intervention strategies to prevent lung damage in early cystic fibrosis (CF) requires objective outcome measures that capture and track lung disease. OBJECTIVE: To define the utility of the Lung Clearance Index (LCI), measured by Multiple Breath Washout (MBW), as a means to track disease progression in preschool children with CF. METHODS: CF children between the ages of 2.5 and 6 years with a confirmed diagnosis of CF and age-matched healthy controls were enrolled at three North American CF centers...
December 12, 2016: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/27745906/interventional-treatments-for-hailey-hailey-disease
#9
REVIEW
Benjamin Farahnik, Collin M Blattner, Michael B Mortazie, Benjamin M Perry, William Lear, Dirk M Elston
Hailey-Hailey disease or familial benign chronic pemphigus is a rare blistering dermatosis that is characterized by recurrent erythematous plaques with a predilection for the skin folds. For extensive Hailey-Hailey disease that is recalcitrant to conventional therapy, laser ablation, photodynamic therapy, electron beam radiotherapy, botulinum toxin type A, dermabrasion, glycopyrrolate, and afamelanotide have been reported as useful treatments, but comparative trials are lacking. This review discusses the various treatment modalities for Hailey-Hailey disease and a summary of the evidence for the most recommended treatments...
March 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/27695354/management-of-familial-benign-chronic-pemphigus
#10
Harleen Arora, Fleta N Bray, Jessica Cervantes, Leyre A Falto Aizpurua
Benign familial chronic pemphigus or Hailey-Hailey disease is caused by an autosomal dominant mutation in the ATP2C1 gene leading to suprabasilar acantholysis. The disease most commonly affects intertriginous areas symmetrically. The chronic nature of the disease and multiple recurrences make the disease bothersome for patients and a treatment challenge for physicians. Treatments include topical and/or systemic agents and surgery including laser. This review summarizes the available treatment options.
2016: Clinical, Cosmetic and Investigational Dermatology
https://www.readbyqxmd.com/read/27617466/familial-benign-pemphigus-atypical-localization
#11
Maria Veronica Reyes, Sabina Halac, Claudio Mainardi, Maria Kurpis, Alejandro Ruiz Lascano
We present an atypical case of familial benign pemphigus (Hailey-Hailey disease), which presented as crusted, annular plaques limited to the back without intertriginous involvement. We could not find in the literature another patient with plaques located solely on the back without a prior history of classical disease.
April 18, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27528123/the-loss-of-atp2c1-impairs-the-dna-damage-response-and-induces-altered-skin-homeostasis-consequences-for-epidermal-biology-in-hailey-hailey-disease
#12
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
Mutation of the Golgi Ca(2+)-ATPase ATP2C1 is associated with deregulated calcium homeostasis and altered skin function. ATP2C1 mutations have been identified as having a causative role in Hailey-Hailey disease, an autosomal-dominant skin disorder. Here, we identified ATP2C1 as a crucial regulator of epidermal homeostasis through the regulation of oxidative stress. Upon ATP2C1 inactivation, oxidative stress and Notch1 activation were increased in cultured human keratinocytes. Using RNA-seq experiments, we found that the DNA damage response (DDR) was consistently down-regulated in keratinocytes derived from the lesions of patients with Hailey-Hailey disease...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27523793/glutathione-s-transferase-%C3%AF-subunit-as-a-phenotypic-suppressor-of-pmr1%C3%AE-strain-the-kluyveromyces-lactis-model-for-hailey-hailey-disease
#13
G Ficociello, E Zanni, S Cialfi, C Aurizi, G Biolcati, C Palleschi, C Talora, D Uccelletti
BACKGROUND: Hailey-Hailey disease (HHD), also known as familial benign chronic pemphigus, is a rare, chronic and recurrent blistering disorder, histologically characterized by suprabasal acantholysis. HHD has been linked to mutations in ATP2C1, the gene encoding the human adenosine triphosphate (ATP)-powered calcium channel pump. METHODS: In this work, the genetically tractable yeast Kluyveromyces lactis has been used to study the molecular basis of Hailey-Hailey disease...
November 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27510943/exacerbation-of-hailey-hailey-disease-by-topiramate
#14
Azzam Alkhalifah, Henri Montaudié, Jean-Philippe Lacour, Michel Lantéri-Minet, Thierry Passeron
Hailey-Hailey disease, also known as familial benign chronic pemphigus, is a rare autosomal dominant genodermatosis characterized by vesicular lesions, painful erosions, fissures and erythematous plaques occurring at sites of friction. UV exposure, sweating, friction, and cutaneous infection can exacerbate the manifestations (1) . Intracellular signalization abnormalities occur due to mutations of the ATP2C1 gene, the coding calcium ion transporter protein SPCA1 on Golgi apparatus, causing intra-epidermal acantholysis responsible for the clinical manifestations (2) ...
August 11, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27502426/a-process-of-prioritizing-topics-for-health-technology-assessment-in-kazakhstan
#15
Lyazzat Kosherbayeva, David Hailey, Kural Kurakbaev, Adlet Tabarov, Ainur Kumar, Gulnara Gutzskaya, Elena Stepkina
OBJECTIVES: The aim of this study was to develop criteria for the prioritization of topics for health technology assessment (HTA) in the healthcare system of Kazakhstan. METHODS: Initial proposals for criteria were suggested through consultation with Ministry of Health (MoH) policy areas. These were refined through a workshop attended by HTA department staff, persons from medical universities and research institutes, and MoH policy makers. The workshop included discussion on methods used in international HTA practice...
January 2016: International Journal of Technology Assessment in Health Care
https://www.readbyqxmd.com/read/27433827/koebnerization-of-hailey-hailey-disease-into-a-cutaneous-drug-eruption-of-acute-generalized-exanthematous-pustulosis-associated-with-systemic-symptoms
#16
Mariam B Totonchy, Jennifer M McNiff, Christopher G Bunick
We describe a 65-year-old Caucasian female with well-controlled Hailey-Hailey disease (HHD) who developed acute generalized exanthematous pustulosis (AGEP) with severe systemic symptoms. Despite sparing of the patient's intertriginous skin, histopathologic evidence of HHD was observed in all biopsies, suggestive of a unique koebernization phenomenon of HHD to areas of cutaneous drug eruption. While internal organ involvement is less commonly reported in AGEP, there are an increasing number of patients with signs and symptoms suggestive of an AGEP/drug reaction with eosinophilia and systemic symptoms (DRESS) spectrum of cutaneous drug disorders...
November 2016: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/27421250/non-cosmetic-dermatological-uses-of-botulinum-neurotoxin
#17
REVIEW
E Forbat, F R Ali, F Al-Niaimi
Botulinum neurotoxin (BoNT) is renowned for its inhibitory effects on the neuromuscular junction. The evidence for its use in cosmetic dermatology and in non-dermatological indications is well established. We have systemically analysed the evidence for the non-cosmetic dermatological uses of BoNT. This review presents the many small studies showing promising results for the use of BoNT in a multitude of dermatological diseases, including (but not limited to) hyperhidrosis, Darier's disease, Hailey-Hailey disease, pompholyx and hidradenitis suppurativa...
December 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27407050/a-bullous-flare-of-a-hyperkeratotic-affair-a-case-report
#18
Natasha Klimas, Cameron West, Michelle Tarbox
BACKGROUND: Darier's disease is an autosomal dominant genodermatosis typified by hyperkeratotic papules and plaques in a predominately seborrheic distribution. The vesiculo-bullous variant of Darier's disease is rare. Several previously reported cases have demonstrated clinical and microscopic features resembling familial benign chronic pemphigus or Hailey-Hailey disease. OBJECTIVES: The objective of this report is to describe an uncommon presentation of Darier's disease, which has been infrequently described in the literature...
November 2016: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/27340911/experimental-pain-phenotyping-in-community-dwelling-individuals-with-knee-osteoarthritis
#19
Josue S Cardoso, Joseph L Riley, Toni Glover, Kimberly T Sibille, Emily J Bartley, Burel R Goodin, Hailey W Bulls, Matthew Herbert, Adriana S Addison, Roland Staud, David T Redden, Laurence A Bradley, Roger B Fillingim, Yenisel Cruz-Almeida
Pain among individuals with knee osteoarthritis (OA) is associated with significant disability in older adults, and recent evidence demonstrates enhanced experimental pain sensitivity. Although previous research showed considerable heterogeneity in the OA clinical pain presentation, less is known regarding the variability in responses to experimental pain. The present study included individuals with knee OA (n = 292) who participated in the Understanding Pain and Limitations in Osteoarthritic Disease study and completed demographic and psychological questionnaires followed by a multimodal quantitative sensory testing (QST) session...
September 2016: Pain
https://www.readbyqxmd.com/read/27319962/methotrexate-induced-nasal-septal-perforation
#20
Edidiong Ntuen Kaminska, Freda Sansaricq, Vesna Petronic-Rosic
A 58-year-old woman with a 31-year history of Hailey-Hailey (HH) disease that was refractory to treatment with mycophenolate mofetil, cyclosporine, dapsone, sulfasalazine, topical/oral antibiotics, and topical/oral steroids presented for alternative treatment options. Active erythematous, malodorous, eroded, and crusted plaques were present in the axillae, inframammary region, groin, and back (Figure 1). The patient had an undulant course, with acute exacerbations and partial remissions. During a 3-year period, she was prescribed oral methotrexate at a dose of 10 mg to 15 mg per week with daily oral folic acid (1 mg) supplementation, except on the day she took methotrexate...
2016: Skinmed
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