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


Dupilumab in Hailey-Hailey disease: A case series.

J Eur Acad Dermatol Venereol 2022 Jun 23. Epub 2022 Jun 23.

Department of Dermatology1, Hospital Clínic de Barcelona, University of Barcelona, Barcelona, Spain.

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Two novel mutations in the ATP2C1 gene found in Japanese patients with Hailey-Hailey disease.

J Dermatol 2022 Jun 10;49(6):656-660. Epub 2022 Mar 10.

Department of Dermatology, Nippon Medical School, Tokyo, Japan.

Hailey-Hailey disease (HHD) is an autosomal dominant genodermatosis and the defective gene in HHD is ATP2C1, which encodes secretory pathway Ca /Mn ATPase type 1 (SPCA1). Here we report four Japanese HHD patients showing three kinds of mutations with premature termination codons in the ATP2C1 gene, including two novel ones. Patient 1 was a 39-year-old man with a novel heterozygous mutation, c. Read More

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Bullous Melanoma: should the thickness of the bullous lesion be included in Breslow depth measurement?

An Bras Dermatol 2022 Mar-Apr;97(2):189-192. Epub 2022 Jan 26.

Department of Pathology, Laboratório do Vale, Taubaté, SP, Brazil.

Bullous melanoma represents a rare variant of melanoma, especially in patients without underlying bullous cutaneous disease. Few cases have been described in the literature, including cases of melanoma in patients with bullous epidermolysis or Hailey-Hailey disease. The histopathological diagnosis of bullous melanoma does not show any difficulties, except for the measurement of the Breslow index. Read More

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Treatment of Familial Benign Chronic Pemphigus With Superficial Radiotherapy.

JAMA Dermatol 2022 Mar;158(3):283-287

Department of Dermatology, Bispebjerg University Hospital, Copenhagen, Denmark.

Importance: Hailey-Hailey disease (HHD) is a chronic genodermatosis with recurrent vesicles and erosions mainly in the intertriginous areas. Hailey-Hailey disease severely affects patient quality of life. Standard treatments attempt to control the flares, but often do not result in long-term remission of the disease. Read More

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Benign Familial Pemphigus.

JAMA Dermatol 2022 03;158(3):315

Department of Dermatology, The George Washington University School of Medicine and Health Sciences, Washington, DC.

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Case Report: A Case of Hailey-Hailey Disease Mimicking Condyloma Acuminatum and a Novel Splice-Site Mutation of ATP2C1 Gene.

Front Genet 2021 14;12:777630. Epub 2021 Dec 14.

Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China.

Hailey-Hailey disease (HHD) is a rare autosomal-dominant blistering disorder characterized by recurrent vesicular and erosive lesions at intertriginous sites. We described a 24-year-old male who presented with multiple bright red verrucous papules in his mons pubis, bilateral groins, scrotum, perineum, and crissum, clinically resembling condyloma acuminatum. The histopathology showed extensive acantholysis with the characteristic appearance of a dilapidated brick-wall. Read More

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December 2021

Dermpath & Clinic: Hailey Hailey disease treated with low-dose naltrexone.

Eur J Dermatol 2021 Oct;31(5):675-676

Department of Anatomic Pathology, Lyon Sud Hospital Center, Pierre Bénite, France.

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October 2021

Carbon Dioxide Laser Treatment in Hailey-Hailey Disease.

Dermatol Surg 2022 Jan;48(1):146-148

Dermatology Department, Hospital Universitario Fundación Alcorcón, Madrid, Spain.

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January 2022

Apremilast in combination with botulinum toxin-A injection for recalcitrant Hailey-Hailey disease.

Int J Dermatol 2022 05 27;61(5):600-602. Epub 2021 Oct 27.

Department of Dermatology, School of Medicine, University Clinic of Navarra, University of Navarra, Pamplona, Spain.

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Darier and Hailey-Hailey disease: update 2021.

J Dtsch Dermatol Ges 2021 10;19(10):1478-1501

Department of Dermatology, Venereology and Allergology, University Würzburg, Würzburg, Germany.

The autosomal-dominant genodermatoses Darier disease and Hailey-Hailey disease present special challenges to dermatologists. Despite their similar pathogenesis featuring impaired adhesion of suprabasal keratinocytes as a result of defective ATPases in epidermal calcium channels, the two diseases differ considerably in clinical presentation and therapeutic options. Darier disease is characterized by reddish brown, keratotic papules in seborrheic and intertriginous areas, which may coalesce into extensive lesions. Read More

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October 2021

Two cases of Hailey-Hailey disease effectively treated with apremilast and a review of reported cases.

J Dermatol 2021 Dec 26;48(12):1945-1948. Epub 2021 Sep 26.

Department of Dermatology, Faculty of Medicine, Academic Assembly, University of Toyama, Toyama, Japan.

Hailey-Hailey disease (HHD) is an autosomal dominant genetic disease caused by a mutation of the ATP2C1 gene. Corticosteroids, antibiotics or cyclosporine have been administered to reduce inflammation and prevent flare-ups, but the efficacy is not always sufficient. We herein report two cases of HHD effectively treated with apremilast and review the previous literature. Read More

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December 2021

Exacerbation of Hailey-Hailey Disease Following SARS-CoV-2 Vaccination.

Acta Derm Venereol 2021 Sep 22;101(9):adv00554. Epub 2021 Sep 22.

Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

is missing (Short communication). Read More

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September 2021

Role of pro-inflammatory cytokines in the pathophysiology of herpes simplex virus superinfection in Darier's disease.

J Dermatol 2021 Oct 6;48(10):1607-1611. Epub 2021 Aug 6.

Department of Dermatology, Kawasaki Medical School, Kurashiki, Japan.

Darier's disease (DD) and Hailey-Hailey disease (HHD), belonging to a hereditary acantholytic dermatosis caused by mutations in ATP2A2 and ATP2C1, respectively, are easily affected by eczema herpeticum (EH) induced by mostly herpes simplex virus (HSV) superinfection. However, the mechanisms by which those patients with DD or HHD are susceptible to HSV are not well elucidated. Here, we experienced two cases with DD, including three episodes of the exacerbation of DD after the development of severe EH. Read More

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October 2021

Weak immunohistochemical expression of galectin-3 near blisters in Hailey-Hailey disease.

J Cutan Pathol 2022 Jan 29;49(1):29-33. Epub 2021 Jul 29.

Department of Pathology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.

Background: Hailey-Hailey disease (HHD) is an uncommon hereditary and benign skin condition characterized by blisters and erosions on intertriginous areas. It is related to a mutation of the ATP2C1 gene, which encodes a Ca pump. It is characterized by multiple foci of skin acantholysis in the epidermis, with dyskeratosis and suprabasilar clefting. Read More

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January 2022

Vesiculobullous Hailey-Hailey's disease with scarring mimicking a subepidermal autoimmune blistering disease and its management with retinoids.

Australas J Dermatol 2021 Aug 24;62(3):e471-e473. Epub 2021 May 24.

Department of Anatomical Pathology, Concord Repatriation General Hospital, Sydney, NSW, Australia.

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Hailey-Hailey disease treated with dupilumab: a case series.

Br J Dermatol 2021 09 5;185(3):680-682. Epub 2021 Jul 5.

Department of Dermatology, Tufts Medical Center, Boston, MA, USA.

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September 2021

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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Whole exome sequencing improves mutation detection in Hailey-Hailey disease.

J Dermatol 2021 Jul 20;48(7):989-992. Epub 2021 Apr 20.

Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan, China.

Hailey-Hailey disease (HHD) is an autosomal dominant monogenic disease that is defective in the ATP2C1 gene. In previous studies, Sanger sequencing was the main method applied to detect mutations in HHD patients, and no mutations in the ATP2C1 gene were found in 12-55% of those reported. The aim of our study was to carry out whole exome sequencing (WES) for the HHD patients in whom efforts to identify mutations by Sanger sequencing had failed, and to find a new pathogenic gene. 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

Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review.

Mol Genet Genomic Med 2021 02 20;9(2):e1580. Epub 2020 Dec 20.

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

Background: Hailey-Hailey disease (HHD; OMIM: 169600) is an autosomal dominate genodermatosis, characterized by recurrent blisters and erosions clinically and remarkable acantholysis pathologically. The underlying pathogenic factor is the mutation of ATP2C1 gene (OMIM: 604384), which encodes secretory pathway Ca /Mn -ATPase (SPCA1). Skin folds are the predilection site of HHD. Read More

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February 2021

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