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

    1 OF 11

    Interventional treatments for Hailey-Hailey disease.
    J Am Acad Dermatol 2017 Mar 13;76(3):551-558.e3. Epub 2016 Oct 13.
    Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, South Carolina.
    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. Read More

    Management of familial benign chronic pemphigus.
    Clin Cosmet Investig Dermatol 2016 14;9:281-290. Epub 2016 Sep 14.
    Department of Dermatology and Cutaneous Surgery, University of Miami-Miller School of Medicine, Miami, FL, USA.
    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. Read More

    Familial benign pemphigus atypical localization.
    Dermatol Online J 2016 Apr 18;22(4). Epub 2016 Apr 18.
    Hospital Privado de Córdoba.
    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. Read More

    Glutathione S-transferase ϴ-subunit as a phenotypic suppressor of pmr1Δ strain, the Kluyveromyces lactis model for Hailey-Hailey disease.
    Biochim Biophys Acta 2016 Nov 11;1863(11):2650-2657. Epub 2016 Aug 11.
    Department of Biology and Biotechnology "C. Darwin", Sapienza University of Rome, Rome, Italy. Electronic address:
    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. Read More

    A Bullous Flare of a Hyperkeratotic Affair: A Case Report.
    J Cutan Med Surg 2016 Nov 12;20(6):589-591. Epub 2016 Jul 12.
    Department of Dermatology, Texas Tech University Health Sciences Center, Lubbock, TX, USA.
    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. Read More

    Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population.
    Genet Mol Res 2015 Dec 29;14(4):19349-59. Epub 2015 Dec 29.
    Department of Phototherapy, Shanghai Skin Disease Hospital, Shanghai, China.
    Hailey-Hailey disease (HHD) is an autosomal dominant disorder in which the ATP2C1 gene has been implicated. Many mutations of this gene have been detected in HHD patients. To analyze such mutations in HHD and summarize all those identified in Chinese patients with this disease, we examined four familial and two sporadic cases and searched for case reports and papers by using the Chinese Biological Medicine Database and PubMed. Read More

    Efficacy of magnesium chloride in the treatment of Hailey-Hailey disease: some further considerations.
    Int J Dermatol 2016 Mar 31;55(3):e170-1. Epub 2015 Oct 31.
    Department of Morphology, Surgery and Experimental Medicine, Section of General Pathology, Interdisciplinary Center for the Study of Inflammation (ICSI), Laboratory for Technologies of Advanced Therapies (LTTA), University of Ferrara, Ferrara, Italy.

    Carbon dioxide laser treatment for Hailey-Hailey disease: a retrospective chart review with patient-reported outcomes.
    Int J Dermatol 2015 Nov 4;54(11):1309-14. Epub 2015 Sep 4.
    Department of Dermatology, Mayo Clinic, Rochester, MN, USA.
    Background: Hailey-Hailey disease (HHD) is an autosomal dominant genodermatosis that leads to skin breakdown and blister formation, usually in intertriginous areas. Laser ablation is a known surgical treatment for HHD.

    Objectives: We report outcomes in a series of patients with HHD treated with carbon dioxide (CO2 ) laser ablation. Read More

    Hailey-Hailey disease: A fold (intertriginous) dermatosis.
    Clin Dermatol 2015 Jul-Aug;33(4):452-5. Epub 2015 Apr 8.
    Department of Dermatology, Cerrahpaşa Medical Faculty, Istanbul University, Fatih, Istanbul 34098, Turkey.
    Hailey-Hailey disease, also called benign familial pemphigus, is a late-onset blistering disorder that affects the flexures. There are typically painful erosions and cracks in affected areas. Lesions generally begin between 20 and 40 years of age. Read More

    A recurrent melanocytic nevus phenomenon in the setting of Hailey-Hailey disease.
    J Cutan Pathol 2015 Aug 26;42(8):574-7. Epub 2015 May 26.
    Department of Dermatology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
    Atypical acquired melanocytic nevi in patients with epidermolysis bullosa (EB) have been referred to as EB nevi and are considered to be a type of recurrent nevus with atypical but distinctive histopathologic findings. Herein, we describe an atypical nevus in a patient with Hailey-Hailey disease with different histopathologic findings from EB nevi because of presumably different pathogenesis. It is important to be aware that the recurrent nevi phenomenon can be seen in acantholytic conditions as well as blistering disorders, given these lesions may clinically resemble melanoma. Read More

    A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?
    PLoS One 2015 2;10(4):e0121253. Epub 2015 Apr 2.
    Department of Dermatology, Allergology and Venerology, University of Luebeck, Luebeck, Germany.
    The autosomal dominant Hailey Hailey disease (HHD) is caused by mutations in the ATP2C1 gene encoding for human secretory pathway Ca2+/Mn2+ ATPase protein (hSPCA1) in the Golgi apparatus. Clinically, HHD presents with erosions and hyperkeratosis predominantly in the intertrigines. Here we report an exome next generation sequencing (NGS) based analysis of ATPase genes in a Greek family with 3 HHD patients presenting with clinically atypical lesions mainly localized on the neck and shoulders. Read More

    Remission of refractory benign familial chronic pemphigus (hailey-hailey disease) with the addition of systemic cyclosporine.
    J Cutan Med Surg 2015 Mar-Apr;19(2):163-6. Epub 2015 Mar 5.
    Department of Dermatology, Tufts Medical Center, Boston, MA, and private practice, Chelmsford, MA.
    Background: Benign chronic familial pemphigus (BFCP) is an autosomal dominant dermatosis characterized by flares of painful and often debilitating blistering lesions in high friction areas of the body such as the groin, axillae, lateral neck, and intergluteal cleft. Limited knowledge of its pathophysiology has made treatment of BFCP a considerable challenge and efficacy with current first line therapies, topical corticosteroids and antibiotics, is variable.

    Case Report: We present a case of this disease in a 52 year old woman that has responded dramatically to the addition of oral cyclosporine to her existing regimen of oral acitretin, with significant improvement of skin lesions, mobility, and quality of life. Read More

    Off-label use of TNF-alpha inhibitors in a dermatological university department: retrospective evaluation of 118 patients.
    Dermatol Ther 2015 May-Jun;28(3):158-65. Epub 2015 Mar 3.
    Department of Dermatology, Bispebjerg Hospital, University of Copenhagen, Copenhagen, Denmark.
    Tumor necrosis factor-alpha (TNF)-alpha inhibitors are licensed for patients with severe refractory psoriasis and psoriatic arthritis. However, TNF-alpha inhibitors have also been used off-label for various recalcitrant mucocutaneous diseases. This study aimed to evaluate the efficacy and safety of TNF-alpha inhibitors used for off-label dermatological indications. Read More

    Identification of several mutations in ATP2C1 in Lebanese families: insight into the pathogenesis of Hailey-Hailey disease.
    PLoS One 2015 6;10(2):e0115530. Epub 2015 Feb 6.
    Department of Dermatology, American University of Beirut, Beirut, Lebanon; Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon; Department of Dermatology, Columbia University, New York, New York, United States of America.
    Background: Hailey-Hailey disease (HHD) is an inherited blistering dermatosis characterized by recurrent erosions and erythematous plaques that generally manifest in intertriginous areas. Genetically, HHD is an autosomal dominant disease, resulting from heterozygous mutations in ATP2C1, which encodes a Ca2+/Mn2+ATPase. In this study, we aimed at identifying and analyzing mutations in five patients from unrelated families diagnosed with HHD and study the underlying molecular pathogenesis. Read More

    Successful botulinum toxin (onabotulinumtoxinA) treatment of Hailey-Hailey disease.
    J Drugs Dermatol 2015 Jan;14(1):68-70
    Hailey-Hailey disease is a genetic disorder that affects flexural skin with scale, blisters, and maceration. Botulinum toxins have been previously used to treat Hailey-Hailey disease. Here, we present a patient who underwent one treatment of onabotulinumtoxinA and achieved excellent improvement that was sustained for three months post initial treatment. Read More

    Hailey-Hailey disease and review of management.
    J Drugs Dermatol 2014 Oct;13(10):1254-7
    Importance: Hailey-Hailey disease, or familial benign chronic pemphigus, is a rare genodermatosis that can be challenging for both patients and dermatologists as the disease can significantly impact patients' quality of life and is often difficult to control. In recalcitrant cases, multiple treatment modalities are often needed to obtain benefit. Unfortunately, most of the available evidence pertaining to treatment is scattered across case reports and retrospective analyses. Read More

    Hailey-Hailey disease improved by fractional CO2 laser.
    J Cosmet Laser Ther 2015 13;17(4):213-5. Epub 2015 Feb 13.
    Department of Dermatology, Hospital Central Dr. Ignacio Morones Prieto, Universidad Autónoma de San Luis Potosí , San Luis Potosi , México.
    Hailey-Hailey disease (HHD), also known as benign familial pemphigus, is an autosomal dominant skin condition that affects the adhesion of epidermal keratinocytes. Although the initial manifestation of flaccid vesicles on erythematous or normal skin in flexure sites frequently goes unnoticed, large, macerated, exudative plaques of superficial erosions with crusting are observed at the time of diagnosis. There is no specific treatment for HHD, and most cases are symptomatically supported. Read More

    Benign familial pemphigus (Hailey-Hailey disease).
    Dermatol Online J 2015 Dec 16;21(12). Epub 2015 Dec 16.
    New York University School of Medicine.
    A 56-year-old man presented with a 15-year history of scaly red plaques on the trunk and axillae. Skin biopsy was consistent with Hailey-Hailey disease. His condition was refractory to multiple therapies, which included topical and oral antibiotics and topical, intralesional, and oral glucocorticoids. Read More

    Hailey-Hailey disease exacerbated by multiple pregnancies: case report and review of the literature.
    Dermatol Online J 2014 Oct 15;20(10). Epub 2014 Oct 15.
    University of Texas health Science Center at Houston.
    Hailey-Hailey disease is a rare chronic skin disorder that is inherited in an autosomal dominant manner. The disease is characterized by development of vesicles and bullae typically in the intertriginous areas. On histology, there is widespread intraepidermal acantholysis causing the "dilapidated brick-wall" appearance. Read More

    Efficacy of magnesium chloride in the treatment of Hailey-Hailey disease: from serendipity to evidence of its effect on intracellular Ca(2+) homeostasis.
    Int J Dermatol 2015 28;54(5):543-8. Epub 2014 Nov 28.
    Department of Medical Sciences, Section of Dermatology, University of Ferrara, Ferrara, Italy.
    Background: Hailey-Hailey disease (HHD), also known as familial benign chronic pemphigus, is a rare autosomal dominant inherited intraepidermal blistering genodermatosis. Mutations in the ATP2C1 gene encoding for the Golgi secretory pathway Ca(2+) /Mn(2+) -ATPasi protein 1 (SPCA1) affect the processing of desmosomal components and the epidermal suprabasal cell-cell adhesion by deregulating the keratinocyte cytosolic Ca(2+) concentration. We report the unexpected, dramatic, and persistent clinical improvement of the skin lesions of a patient affected with longstanding HHD with daily intake of a solution containing magnesium chloride hexahydrate (MgCl2 ). Read More

    Laser therapy for the treatment of Hailey-Hailey disease: a systematic review with focus on carbon dioxide laser resurfacing.
    J Eur Acad Dermatol Venereol 2015 Jun 21;29(6):1045-52. Epub 2014 Nov 21.
    Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.
    Benign familial chronic pemphigus, or Hailey-Hailey disease (HHD), is a recurrent bullous dermatitis that tends to have a chronic course with frequent relapses. Long-term treatment options include surgery with skin grafting or dermabrasion. Both are highly invasive and carry significant risks and complications. Read More

    Hailey-Hailey disease associated with herpetic eczema-the value of the Tzanck smear test.
    Dermatol Pract Concept 2014 Oct 31;4(4):29-31. Epub 2014 Oct 31.
    Department of Clinical Medicine, Dermatology Center, Rio Grande do Norte University, Natal, Brazil.
    Background: Herpetic eczema is a herpetic superinfection of a preexisting skin disease. Hailey-Hailey disease is an autosomal dominant dermatosis that is clinically characterized by flaccid vesicles and rashes in intertriginous areas. The coexistence of those findings is a rare condition; only five cases have been published in literature. Read More

    Remission of refractory benign familial chronic pemphigus (hailey-hailey disease) with the addition of systemic cyclosporine.
    J Cutan Med Surg 2014 Oct;18(5):1-4
    Background: Benign chronic familial pemphigus (BFCP) is an autosomal dominant dermatosis characterized by flares of painful and often debilitating blistering lesions in high friction areas of the body such as the groin, axillae, lateral neck, and intergluteal cleft. Limited knowledge of its pathophysiology has made treatment of BFCP a considerable challenge and efficacy with current first line therapies, topical corticosteroids and antibiotics, is variable.

    Case Report: We present a case of this disease in a 52 year old woman that has responded dramatically to the addition of oral cyclosporine to her existing regimen of oral acitretin, with significant improvement of skin lesions, mobility, and quality of life. Read More

    Hailey-Hailey disease: investigation of a possible compensatory SERCA2 up-regulation and analysis of SPCA1, p63, and IRF6 expression.
    Arch Dermatol Res 2015 Mar 26;307(2):143-9. Epub 2014 Sep 26.
    Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, 157 Xiwu Road, Xi'an, Shaanxi, 710004, People's Republic of China.
    Hailey-Hailey disease (HHD) is caused by heterozygous mutations in the ATP2C1 gene, encoding the secretory pathway Ca(2+) ATPase1 (SPCA1). SPCA1 and sarco/endoplasmic reticulum Ca(2+) ATPase2 (SERCA2) encoded by ATP2A2 are two essential calcium pumps needed for Ca(2+) homeostasis maintenance in keratinocytes. ATP2A2 mutations cause another hereditary skin disorder, Darier's disease (DD). Read More

    Successful treatment with narrow-band UVB therapy for a case of generalized Hailey-Hailey disease with a novel splice-site mutation in ATP2C1 gene.
    Dermatol Ther 2014 Jul-Aug;27(4):233-5. Epub 2014 Jun 24.
    Department of Dermatology, Kansai Medical University, Hirakata, Japan.
    Hailey-Hailey disease (HHD) is a rare autosomal dominant disorder characterized by development of recurrent blisters, erosions, and crustations in the intertriginous areas. The treatment of HHD is often challenging, and various methods have been tried. We report here a case of a 45-year-old woman with a generalized form of HHD that was dramatically improved and well controlled by narrow-band ultraviolet B phototherapy. Read More

    A case of bullous pemphigoid associated with psoriasis vulgaris showing Hailey-Hailey disease-like histopathological changes in regenerated epidermis without genomic mutation in ATP2C1 or ATP2A2 gene.
    J Eur Acad Dermatol Venereol 2015 Aug 21;29(8):1646-8. Epub 2014 Apr 21.
    Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Fukuoka, Japan.

    Hailey-hailey disease responding to thalidomide.
    Indian J Dermatol 2014 Mar;59(2):190-2
    Department of Dermatology, Venereology and Leprosy, Father Muller Medical College, Mangalore, Karnataka, India.
    Familial benign chronic pemphigus or Hailey-Hailey disease (HHD) is a rare autosomal dominant disorder characterized by the development of recurrent blisters and erosions in the intertriginous areas. Various topical and systemic treatment options include corticosteroids, topical 5-fluorouracil, topical vitamin D analogs, topical zinc oxide, dapsone, psoralen plus ultraviolet A, systemic retinoids, cyclosporine, methotrexate, and photodynamic therapy. In recalcitrant cases, further options including, invasive methods such as grenz ray therapy, carbon dioxide laser abrasion, and erbium: YAG laser ablation, dermabrasion, electron beam therapy, botulinum toxin, and full-thickness excision of affected skin with repair by split-thickness grafting have been reported as useful in treatment of HHD. Read More

    Mutation-dependent effects on mRNA and protein expressions in cultured keratinocytes of Hailey-Hailey disease.
    Exp Dermatol 2014 Jul;23(7):514-6
    Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
    Hailey-Hailey disease (HHD) is a dominantly inherited skin disease caused by mutations in ATP2C1 gene, which encodes secretory pathway Ca(2+) /Mn(2+) -ATPase protein 1. The precise mechanism remains unclear. In this study, to understand molecular basis of HHD, we examined expression of mRNA and protein in cultured keratinocytes derived from three HHD patients with different mutations. Read More

    Mononeuritis multiplex: association with infectious condition and familial background in a tropical environment: a case report.
    Wien Klin Wochenschr 2014 Apr 25;126 Suppl 1:S42-5. Epub 2014 Mar 25.
    Department of Neurology, Wagner Jauregg Hospital, Wagner Jauregg Weg 15, 4021, Linz, Austria,
    Mononeuritis multiplex is characterized by an asymmetric pattern with affection of the peripheral nervous system; this form of polyneuropathy is often seen in non-systemic vasculitis. We present a case of multiplex neuropathy in a patient with histologicaly verified Hailey-Hailey disease. With the exception of this comorbidity--in its characteristic form presenting additionally with a superinfected subdermal node--we did not find any other possible etiologic factor possibly causative of multiplex neuritis. Read More

    Using yeast to model calcium-related diseases: example of the Hailey-Hailey disease.
    Biochim Biophys Acta 2014 Oct 25;1843(10):2315-21. Epub 2014 Feb 25.
    Andalusian Center of Molecular Biology and Regenerative Medicine (CABIMER), University of Seville, Avd. Americo Vespucio SN, 41092 Sevilla, Spain.
    Cross-complementation studies offer the possibility to overcome limitations imposed by the inherent complexity of multicellular organisms in the study of human diseases, by taking advantage of simpler model organisms like the budding yeast Saccharomyces cerevisiae. This review deals with, (1) the use of S. cerevisiae as a model organism to study human diseases, (2) yeast-based screening systems for the detection of disease modifiers, (3) Hailey-Hailey as an example of a calcium-related disease, and (4) the presentation of a yeast-based model to search for chemical modifiers of Hailey-Hailey disease. Read More

    Reflectance confocal microscopy as a non-invasive diagnostic tool for Hailey-Hailey disease.
    Skin Res Technol 2014 Nov 17;20(4):503-9. Epub 2014 Feb 17.
    Department of Dermatology, CSK MSW, Warsaw, Poland.
    Background/purpose: Reflectance confocal microscopy (RCM) is a non-invasive method for high-resolution, in vivo imaging of the epidermis and upper dermis. The purpose of the study was to evaluate the potential usefulness of RCM as a non-invasive diagnostic tool for Hailey-Hailey disease (familial benign chronic pemphigus).

    Methods: Four patients with Hailey-Hailey disease were examined by RCM. Read More

    Efficacy of the melanocortin analogue Nle4-D-Phe7-α-melanocyte-stimulating hormone in the treatment of patients with Hailey-Hailey disease.
    Clin Exp Dermatol 2014 Mar 25;39(2):168-75. Epub 2013 Oct 25.
    Porphyria Center, San Gallicano Institute IRCCS, Rome, Italy.
    Background: Hailey-Hailey disease (HHD) is a rare, chronic and recurrent blistering disorder, which is characterized clinically by erosions occurring primarily in intertriginous regions, and histologically by suprabasal acantholysis. Oxidative stress plays a specific role in the pathogenesis of HHD, by regulating the expression of factors playing an important role in keratinocyte proliferation and differentiation.

    Aim: Given the significance of oxidative stress in HHD, we investigated the potential effects of the antioxidant properties of an α-MSH analogue, Nle4-D-Phe7-α-MSH (afamelanotide), in HHD lesion-derived keratinocytes. Read More

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