637 results match your criteria Familial Benign Pemphigus Hailey-Hailey Disease


Hailey-Hailey disease treated with dupilumab: case series.

Br J Dermatol 2021 May 10. Epub 2021 May 10.

Tufts Medical Center, Boston, MA, USA.

Hailey-Hailey disease (HHD), also known as familial benign chronic pemphigus, is an autosomal dominant genetic blistering disease caused by a mutation in a calcium transporter protein in the Golgi apparatus encoded by the ATP2C1 gene on chromosome 3. Defective calcium homeostasis in the Golgi apparatus leads to loss of keratinocyte cell-cell adhesion leading to acantholysis. Read More

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Patients with Darier Disease Exhibit Cognitive Impairment while Patients with Hailey-Hailey Disease Do Not: An Experimental, Matched Case-control Study.

Acta Derm Venereol 2021 Jun 22;101(6):adv00476. Epub 2021 Jun 22.

Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, SE-17176 Stockholm, Sweden.

Darier disease and Hailey-Hailey disease are severe, monogenetic dermatological disorders with mutations affecting all cells, making them liable to exhibit extra-dermal symptoms. The aim of this study is to assess broad cognitive function in individuals with these diseases, using an experimental, case-control set-up comparing cognition in patients with that in healthy controls matched for age, sex and level of education. Cognition was assessed with the Cambridge Neuropsycho-logical Test Automated Battery. Read More

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Botulinum toxin injections as an effective treatment for patients with intertriginous Hailey-Hailey or Darier disease: an open-label 6-month pilot interventional study.

Orphanet J Rare Dis 2021 02 18;16(1):93. Epub 2021 Feb 18.

Reference Centre for Rare Skin Diseases, Dermatology Department (CRMRP), Larrey University Hospital, 24, Chemin de Pouvourville TSA 30030, 31059, Toulouse, France.

Background: Patients with Hailey-Hailey and Darier diseases present with disabling inflammatory lesions located in large skin folds, which are often exacerbated or induced by sweating. Quality of life is highly impaired because of pain and recurrent skin infections. An improvement in skin lesions after botulinum toxin A injections has previously been reported in some patients but no prospective interventional studies are available. Read More

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February 2021

A novel deletion mutation in the ATP2C1 gene in a case of generalized Hailey-Hailey disease possibly aggravated by scabies infection.

J Dermatol 2021 Apr 13;48(4):e178-e179. Epub 2021 Feb 13.

Department of Dermatology and Allergology, Juntendo University Graduate School of Medicine, Tokyo, Japan.

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Elderly-onset type 1 mosaic form of Hailey-Hailey disease with a postzygotic variant in ATP2C1.

J Dermatol 2021 Apr 10;48(4):e182-e183. Epub 2021 Feb 10.

Department of Medicine of Sensory and Motor Organs, Division of Dermatology, Faculty of Medicine, Tottori University, Tottori, Japan.

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Botulinum toxin in treating Hailey-Hailey disease: A systematic review.

J Cosmet Dermatol 2021 May 5;20(5):1396-1402. Epub 2021 Feb 5.

Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.

Background: Hailey-Hailey disease is a rare disorder characterized by recurrent painful blistering, erosions, maceration in the intertriginous regions. Botulinum toxin has been used in the treatment of Hailey-Hailey disease.

Aims: This study aimed to examine all published articles on botulinum toxin in the treatment of Hailey-Hailey disease, and to evaluate its efficacy and safety. Read More

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Improvement in Hailey-Hailey disease with a combination of low-dose naltrexone and oral magnesium chloride: A case report.

SAGE Open Med Case Rep 2020 25;8:2050313X20984121. Epub 2020 Dec 25.

Division of Dermatology, Department of Medicine, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, QC, Canada.

Hailey-Hailey disease is a rare autosomal dominant acantholytic disorder due to mutation in the gene and presents with flaccid blisters in intertriginous regions. Its chronic and relapsing course may negatively impact patients' quality of life. Multiple medical and interventional treatments have been described with various efficacy. Read More

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December 2020

Recurrent Ulcerations in an 84-Year-Old Male Diagnosed with Hailey-Hailey Disease.

Case Rep Dermatol 2020 Sep-Dec;12(3):209-212. Epub 2020 Nov 5.

Department of Pathology, Royal Medical Services, Riffa, Bahrain.

Hailey-Hailey disease (HHD), or familial benign chronic pemphigus, is a rare inherited acantholytic dermatosis. It is an autosomal dominant disease affecting the intertriginous areas. HHD has been characterized by flaccid blisters, erosions, and macerations that are limited to flexural (friction-prone) areas. Read More

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November 2020

Hailey-Hailey disease treated successfully with calcipotriol plus betamethasone dipropionate aerosol foam: A case report.

Dermatol Ther 2021 01 15;34(1):e14654. Epub 2020 Dec 15.

Department of Medicine and Health Sciences Vincenzo Tiberio, University of Molise, Campobasso, Italy.

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January 2021

Recalcitrant Hailey-Hailey Disease Successfully Treated with Low-dose Naltrexone.

J Clin Aesthet Dermatol 2020 Nov 1;13(11):19-21. Epub 2020 Nov 1.

Dr. McBride is a dermatology resident with HonorHealth/Affiliated Dermatology in Phoenix, Arizona.

Hailey-Hailey (HHD), or benign familial chronic pemphigus disease, is a rare autosomal dominant blistering disorder characterized by recurrent vesicles that erode and macerate into weeping and crusting plaques. HHD has been shown to be resistant to several treatment options. Although not yet approved as a treatment for HHD, recent reports have suggested the use of low-dose naltrexone (LDN) as a successful treatment option for controlling recalcitrant HHD. Read More

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November 2020

Novel ATP2C1 frame-shift mutation in a mild case of early onset sporadic Hailey-Hailey disease.

J Dermatol 2021 Feb 8;48(2):e96-e97. Epub 2020 Nov 8.

Department of Dermatology, Osaka City University Graduate School of Medicine, Osaka, Japan.

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February 2021

Use of topical 2.4% glycopyrronium tosylate in familial benign pemphigus (Hailey-Hailey disease).

Dermatol Online J 2020 Oct 15;26(10). Epub 2020 Oct 15.

Department of Dermatology, University of Kansas Medical Center, Kansas City, KS.

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October 2020

Successful treatment of refractory Hailey-Hailey disease with oral magnesium chloride.

Dermatol Ther 2020 11 29;33(6):e14429. Epub 2020 Oct 29.

Sanitary Dermatology Outpatient Clinic, Health Department of Rio Grande do Sul State-SES/RS, Porto Alegre, Brazil.

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November 2020

Vulvar Hailey-Hailey disease treated with low-dose naltrexone: case report and literature review.

Arch Gynecol Obstet 2020 11 10;302(5):1081-1086. Epub 2020 Aug 10.

Department of Obstetrics and Gynecology, Alto Minho Local Healthcare Unit, Viana do Castelo, Portugal.

Purpose: To report a case of vulvar familial benign pemphigus, or Hailey-Hailey disease, treated successfully with low-dose naltrexone and to review the current literature.

Methods: We report a case of a 71-year-old white woman with vulvar Hailey-Hailey disease recalcitrant to topical corticosteroids. After treatment with low-dose naltrexone, 3 mg nightly was initiated, the lesions began to heal and 5 months later her skin showed no lesions. Read More

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November 2020

Identification of ATP2C1 mutations in the patients of Hailey-Hailey disease.

BMC Med Genet 2020 06 1;21(1):120. Epub 2020 Jun 1.

Department of Otolaryngology-Head and Neck Surgery, The Second Affiliated Hospital, Xi'an Jiaotong University, NO. 157 Xi Wu Road, Xi'an, 710004, Shaan'xi Province, China.

Background: Familial benign chronic pemphigus, also known as Hailey-Hailey disease (HHD), is a clinically rare bullous Dermatosis. However the mechanism has not been clarified. The study aim to detect novel mutations in exons of ATP2C1 gene in HHD patients; to explore the possible mechnism of HHD pathogenesis by examining the expression profile of hSPCA1, miR-203, p63, Notch1 and HKII proteins in the skin lesions of HHD patients. Read More

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Novel missense mutation (A414P) in ATP2C1 in a case of familial Hailey-Hailey disease.

J Dermatol 2020 Aug 1;47(8):e289-e291. Epub 2020 Jun 1.

Department of Dermatology and Allergology, Juntendo University Graduate School of Medicine, Tokyo, Japan.

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SINE Insertion in an Irish Terrier with Darier Disease and Associated Infundibular Cyst Formation.

Genes (Basel) 2020 04 28;11(5). Epub 2020 Apr 28.

Dermfocus, University of Bern, 3001 Bern, Switzerland.

A 4-month-old female Irish Terrier presented with a well demarcated ulcerative and crusting lesion in the right ear canal. Histological analysis revealed epidermal hyperplasia with severe acantholysis affecting all suprabasal layers of the epidermis, which prompted a presumptive diagnosis of canine Darier disease. The lesion was successfully treated by repeated laser ablation of the affected epidermis. Read More

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SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease.

Biochimie 2020 Jul 23;174:159-170. Epub 2020 Apr 23.

Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, F-59000, Lille, France. Electronic address:

TMEM165 is a Golgi protein whose deficiency causes a Congenital Disorder of Glycosylation (CDG). We have demonstrated that Mn supplementation could suppress the glycosylation defects observed in TMEM165-deficient cells and that TMEM165 was a Mn-sensitive protein. In the Golgi, the other transmembrane protein capable to regulate Mn/Ca homeostasis is SPCA1, encoded by the ATP2C1 gene. Read More

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Bullous Pemphigoid in a Patient with Longstanding Hailey-Hailey Disease Complicated by Eczema Herpeticum: Managing the Coexistence of Three Different Blistering Conditions.

J Clin Aesthet Dermatol 2020 Mar 1;13(3):17-19. Epub 2020 Mar 1.

Drs. Calvão da Silva, Vieira, and Brites are with the Dermatology Department at Coimbra University Hospital in Coimbra, Portugal.

Hailey-Hailey disease (HHD), or chronic benign familial pemphigus, is a rare inherited acantholytic dermatosis, characterized by chronic, recurrent vesicles, erosions, and maceration in intertriginous sites. We present a case of a male patient with longstanding HHD who presented with an acute exacerbation characterized by the worsening of pre-existing lesions but also with the appearance of new large, tense bullae on an erythematous base in the areas of the groin (i.e. Read More

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Apremilast in benign chronic pemphigus (Hailey-Hailey disease).

Clin Exp Dermatol 2020 Aug 21;45(6):737-739. Epub 2020 May 21.

Department of Dermatology, Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona, Spain.

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Low-dose naltrexone in Hailey-Hailey disease: the importance of dosing.

Authors:
P Acharya M Mathur

Br J Dermatol 2020 07 14;183(1):193. Epub 2020 Apr 14.

College of Medical Sciences, Department of Dermatology, Bharatpur, Nepal, 44200.

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Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease.

J Appl Genet 2020 May 25;61(2):187-193. Epub 2020 Jan 25.

Medical Genetics Department, Institute of Mother and Child, Kasprzaka 17a, 01-211, Warsaw, PL, Poland.

Hailey-Hailey disease (HHD) is a rare, late-onset autosomal dominant genodermatosis characterized by blisters, vesicular lesions, crusted erosions, and erythematous scaly plaques predominantly in intertriginous regions. HHD is caused by ATP2C1 mutations. About 180 distinct mutations have been identified so far; however, data of only few cases from Central Europe are available. Read More

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Familial "benign" pemphigus? Erythroderma and fatal outcome.

An Bras Dermatol 2020 Jan - Feb;95(1):75-77. Epub 2019 Nov 25.

Dermatology Service, Universidade Federal de Ciências da Saúde, Porto Alegre, RS, Brazil; School of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.

Hailey-Hailey disease, or familial benign pemphigus, is a rare bullous genodermatosis that usually presents with flaccid blisters, erosions, and maceration limited to flexural areas, resulting in increased morbidity and reduced quality of life for affected patients. The authors report an unusual case of generalized Hailey-Hailey disease with erythroderma and fatal outcome. Read More

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Successful treatment of refractory Hailey-Hailey disease with apremilast.

Clin Exp Dermatol 2020 Jul 4;45(5):604-605. Epub 2020 Feb 4.

Department of Specialized, Clinical and Experimental Medicine, Division of Dermatology, University of Bologna, Bologna, Italy.

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Case of bullous pemphigoid following Hailey-Hailey disease with novel mutation of the ATP2C1 gene.

J Dermatol 2020 Mar 10;47(3):e79-e80. Epub 2020 Jan 10.

Department of Dermatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.

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Improvement of Hailey-Hailey disease with low-dose naltrexone.

Br J Dermatol 2020 06 3;182(6):1500-1502. Epub 2020 Feb 3.

Department of Dermatology and Venereology, Södersjukhuset, Stockholm, Sweden.

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An enhanced transcutaneous delivery of botulinum toxin for the treatment of Hailey-Hailey disease.

Dermatol Ther 2020 01 27;33(1):e13184. Epub 2019 Dec 27.

Department of Dermatology and Venereology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.

Successful treatment of Hailey-Hailey disease with intradermal botulinum toxin injections has been previously reported. The main disadvantages of this treatment are the excruciating pain and the risk of infections due to the numerous injections. We sought to evaluate the clinical effectiveness and safety profile of a novel approach using an energy-based device (Tixel, Novoxel, and Israel), followed by the topical application of botulinum toxin Type A for the treatment of Hailey-Hailey disease. Read More

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January 2020

Hypotonic, Acidic Oxidizing Solution Containing Hypochlorous Acid (HClO) as a Potential Treatment of Hailey-Hailey Disease.

Molecules 2019 Dec 4;24(24). Epub 2019 Dec 4.

Department of Molecular Medicine, Sapienza University of Rome, 00161 Rome, Italy.

Hailey-Hailey disease (HHD) is a rare, chronic and recurrent blistering disorder, characterized by erosions occurring primarily in intertriginous regions and histologically by suprabasal acantholysis. Mutation of the Golgi Ca-ATPase has been identified as having a causative role in Hailey-Hailey disease. HHD-derived keratinocytes have increased oxidative-stress that is associated with impaired proliferation and differentiation. Read More

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December 2019

Hailey-Hailey Disease with Superimposed Eczema Herpeticum Caused by Herpes Simplex Virus Type 2 Infection in a Burn Unit: A Case Report and Literature Review.

Cureus 2019 Oct 14;11(10):e5907. Epub 2019 Oct 14.

Surgery, Burn Center, The Johns Hopkins University School of Medicine, Baltimore, USA.

Familial benign pemphigus, or Hailey-Hailey disease (HHD), is a rare (1 in 50,000), benign, autosomal dominant cutaneous disorder that causes a painful rash and blistering commonly occurring in the intertriginous folds. Despite having a good prognosis, there is no cure for HHD and the disease can be quite debilitating to the quality of life. The complexity of HHD can be compounded by superimposed eczema herpeticum (EH) or Kaposi's varicelliform eruption, which is caused by a viral infection occurring in preexistent cutaneous conditions. Read More

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October 2019

Hailey-Hailey disease with acantholysis of the oral and oesophagogastric mucosa.

Br J Dermatol 2020 05 17;182(5):1294-1296. Epub 2019 Dec 17.

Department of Medicine, Division of Dermatology, Albert Einstein College of Medicine/Montefiore Medical Center, The Bronx, NY, U.S.A.

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