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https://www.readbyqxmd.com/read/27745906/interventional-treatments-for-hailey-hailey-disease
#1
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...
October 13, 2016: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/27695354/management-of-familial-benign-chronic-pemphigus
#2
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
#3
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.
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
#4
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
#5
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
#6
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/27433827/koebnerization-of-hailey-hailey-disease-into-a-cutaneous-drug-eruption-of-acute-generalized-exanthematous-pustulosis-associated-with-systemic-symptoms
#7
Mariam B Totonchy, Jennifer M McNiff, Christopher G Bunick
No abstract text is available yet for this article.
July 19, 2016: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/27421250/non-cosmetic-dermatological-uses-of-botulinum-neurotoxin
#8
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...
July 16, 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
#9
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...
July 12, 2016: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/27319962/methotrexate-induced-nasal-septal-perforation
#10
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
https://www.readbyqxmd.com/read/27277681/atp2c1-gene-mutations-in-hailey-hailey-disease-and-possible-roles-of-spca1-isoforms-in-membrane-trafficking
#11
REVIEW
M Micaroni, G Giacchetti, R Plebani, G G Xiao, L Federici
ATP2C1 gene codes for the secretory pathway Ca(2+)/Mn(2+)-ATPase pump type 1 (SPCA1) localizing at the golgi apparatus. Mutations on the human ATP2C1 gene, causing decreased levels of the SPCA1 expression, have been identified as the cause of the Hailey-Hailey disease, a rare skin disorder. In the last few years, several mutations have been described, and here we summarize how they are distributed along the gene and how missense mutations affect protein expression. SPCA1 is expressed in four different isoforms through alternative splicing of the ATP2C1 gene and none of these isoforms is differentially affected by any of these mutations...
2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27259839/reflectance-confocal-microscopy-in-the-diagnosis-of-vesicobullous-disorders-case-series-with-pathologic-and-cytologic-correlation-and-literature-review
#12
F Lacarrubba, A E Verzì, M Pippione, G Micali
BACKGROUND: Vesicobullous disorders are characterized by intraepidermal or subepidermal blistering resulting from different pathogenetic mechanisms. The diagnosis is generally based on clinical examination and semi-invasive/invasive procedures such as cytology and histopathology. In vivo reflectance confocal microscopy (RCM) is a non-invasive technique for real-time, en face imaging of the epidermis and upper dermis with high resolution close to conventional histopathology. PURPOSE: To evaluate RCM features of different vesicobullous diseases and correlate with cytologic and histopathologic examination...
June 4, 2016: Skin Research and Technology
https://www.readbyqxmd.com/read/27222876/familial-benign-chronic-pemphigus-hailey-hailey-disease-treated-with-electron-beam-radiation
#13
Paul M Graham, Allison Melkonian, David Fivenson
No abstract text is available yet for this article.
March 2016: JAAD Case Reports
https://www.readbyqxmd.com/read/27161553/papular-acantholytic-dyskeratosis-of-the-anogenital-and-genitocrural-area-case-series-and-review-of-the-literature
#14
Maher Al-Muriesh, Bilal Abdul-Fattah, Xia Wang, Mengjie Zhao, Siyuan Chen, Changzheng Huang
BACKGROUND: Papular acantholytic dyskeratosis (PAD) of the anogenital/genitocrural area is described as a rare distinct clinicopathological entity known to dermatopathologists, although its characteristic histopathologic pattern resembles both Hailey-Hailey disease and Darier disease. The objective of this study is to describe the clinical characteristics, histopathologic features and response to treatment of PAD. METHODS: We report in detail six cases of PAD. A literature search of the keyword 'papular acantholytic dyskeratosis' was performed on Google scholar and PubMed, 21 cases of this entity were found...
September 2016: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/27095120/four-novel-atp2c1-mutations-in-chinese-patients-with-hailey-hailey-disease
#15
Hongwen Li, Lan Chen, Aihua Mei, Luzhu Chen, Yaqin Xu, Wei Hu, Yingying Dong, Yanhong Zhang, Tingmei Wang, Dongxian Liu, Yunhua Deng
Hailey-Hailey disease (HHD) is a kind of autosomal dominant dermatosis. The ATP2C1 gene has been identified as the pathogenic gene of HHD since 2000. In this study, direct DNA sequencing was used to identify ATP2C1 gene mutations in four Chinese families and two sporadic cases with HHD. The entire coding and flanking intronic sequences of ATP2C1 were screened for mutations and five heterozygous mutations of the ATP2C1 gene were detected in the four pedigrees and two sporadic cases with HHD. Four of them were novel, including three frame-shift mutations (c...
April 20, 2016: Journal of Dermatology
https://www.readbyqxmd.com/read/27058263/progressive-osseous-heteroplasia-is-not-a-mendelian-trait-but-a-type-2-segmental-manifestation-of-gnas-inactivation-disorders-a-hypothesis
#16
REVIEW
Rudolf Happle
Progressive osseous heteroplasia (POH) is a segmental disorder characterized by progressive heterotopic ossification that extends from dermal and subcutaneous tissues to deeper structures. So far, it has been taken as a rarely occurring bone disease with autosomal dominant inheritance. Here, arguments are presented in favor of the alternative concept that the disorder is merely a type 2 segmental manifestation of autosomal dominant GNAS inactivation disorders. Type 2 segmental mosaicism arises, in a heterozygous embryo, from a somatic mutational event that occurs at an early developmental stage, resulting in loss of the corresponding wild-type allele and giving rise to a homozygous or hemizygous cell clone...
May 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27057511/hailey-hailey-disease
#17
Nidhi Yadav, Bhushan Madke, Sumit Kar, Kameshwar Prasad, Nitin Gangane
No abstract text is available yet for this article.
March 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27028372/papular-acantholytic-dyskeratosis-of-the-vulva-associated-with-familial-hailey-hailey-disease
#18
W Y Yu, E Ng, C Hale, S Hu, M K Pomeranz
Papular acantholytic dyskeratosis (PAD) of the vulva is a rare, chronic disorder first described in 1984. It presents in young women as white to skin-coloured smooth papules over the vulva, which are persistent but asymptomatic. Histologically, there is hyperkeratosis and focal parakeratosis with acantholytic and dyskeratotic cells forming corps ronds and grains, placing PAD within Ackerman's spectrum of focal acantholytic dyskeratoses with Hailey-Hailey disease (HHD) and Darier disease. There have been 17 previous reports of PAD of the vulva, to our knowledge...
August 2016: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/26970226/the-efficacy-of-botulinum-toxin-type-a-in-the-treatment-of-hailey-hailey-disease
#19
Nooshin Bagherani, Bruce R Smoller
No abstract text is available yet for this article.
March 11, 2016: Dermatologic Therapy
https://www.readbyqxmd.com/read/26810769/good-response-to-doxycycline-in-hailey-hailey-disease
#20
M Á Flores-Terry, M P Cortina-de la Calle, M López-Nieto, R Cruz-Conde de Boom
No abstract text is available yet for this article.
July 2016: Actas Dermo-sifiliográficas
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