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J Cell Biochem 2019 Mar 11;120(3):3630-3636. Epub 2018 Sep 11.

Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.

Hailey-Hailey disease (HHD), also known as familial benign chronic pemphigus, is an autosomal dominant genodermatosis. It is characterized by erosions, blisters and erythematous plaques at sites of friction or intertriginous areas. The pathogenic gene of HHD has been revealed as the ATPase secretory pathway Ca transporting 1 gene ( ATP2C1), which encodes the protein, secretory pathway Ca /Mn -ATPase 1 (SPCA1). Read More

Am J Dermatopathol 2019 Jan 11. Epub 2019 Jan 11.

Ackerman Academy of Dermatopathology, New York, NY.

Hailey-Hailey disease (familial benign chronic pemphigus) is a genodermatosis with a typical clinical presentation of macerated plaques involving intertriginous areas of the body and affects multiple family members. Epidermal acanthosis, incipient, and completed acantholysis of many of the spinous keratinocytes of the epidermis and foci of dyskeratosis are well-recognized histologic findings. We have observed solitary lesions on the "scalp" of patients having a Hailey-Hailey-like pattern, and not the suprabasilar clefting of pemphigus represents the first manifestation of pemphigus vulgaris, which was confirmed with direct immunofluorescence in all our patients. Read More

J Cell Biochem 2019 Mar 3;120(3):3801-3812. Epub 2018 Dec 3.

Department of Dermatology, The Second Hospital of Xi'an Jiaotong University, Xi'an, China.

Benign chronic familial pemphigus or Hailey-Hailey disease (HHD, OMIM 169600) is a rare, autosomal dominant blistering skin disorder characterized by suprabasal cell separation (acantholysis) of the epidermis. To date, the proteomic changes in skin lesions from HHD patients has not been reported yet. In this study, a sample of skin lesions from HHD patients was collected for isobaric tags for relative and absolute quantitation to analyze proteome changes compared with unaffected individuals. Read More

JAMA 2018 09;320(11):1200-1201

Department of Dermatology, University of Texas Health Science Center at Houston.

JAMA 2018 09;320(11):1200

Department of Dermatology, Suqian First Hospital, Suqian City, Jiangsu Province, China.

J Cutan Med Surg 2018 Nov/Dec;22(6):661

Dermatol Ther 2019 Jan 25;32(1):e12767. Epub 2018 Oct 25.

Department of Dermatology, University of Naples Federico II, Naples, Italy.

Hailey-Hailey disease (HHD) also known as familial benign chronic pemphigus is a rare autosomal dominant genodermatosis. HHD treatment is often not satisfactory and hence, various modalities of treatment have been tried. We describe the case of a 37-year-old woman with a 2 years history of macerated erythematous plaques along with erosions, fissures, and crusts located on axillae and submammary areas, successfully treated with only oral supplementation of vitamin D (800 I. Read More

Pediatr Dermatol 2018 Nov 30;35(6):e398-e399. Epub 2018 Aug 30.

Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain.

A female infant presented with an ulcerated lesion on the right side of the vulva. Histopathology showed a suprabasal acantholytic blister with intact papillae protruding into the blister cavity and a few dyskeratotic cells. There were no signs of injury on other locations. Read More

JAAD Case Rep 2018 Aug 16;4(7):725-727. Epub 2018 Aug 16.

Department of Dermatology, MetroHealth Medical Center, Case Western Reserve University School of Medicine, Cleveland, Ohio.

Int J Mol Sci 2018 Jun 20;19(6). Epub 2018 Jun 20.

Department of Biology and Biotechnology "C. Darwin", Sapienza University of Rome, 00185 Rome, Italy.

The term orthodisease defines human disorders in which the pathogenic gene has orthologs in model organism genomes. Yeasts have been instrumental for gaining insights into the molecular basis of many human disorders, particularly those resulting from impaired cellular metabolism. We and others have used yeasts as a model system to study the molecular basis of Hailey-Hailey disease (HHD), a human blistering skin disorder caused by haploinsufficiency of the gene the orthologous of the yeast gene . Read More

Pract Radiat Oncol 2018 Sep - Oct;8(5):e259-e261. Epub 2018 Mar 2.

Department of Radiation Oncology, Duke University Medical Center, Durham, North Carolina. Electronic address:

J Cutan Med Surg 2018 May/Jun;22(3):362-364

1 Section of Dermatology, Department of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.

Hailey-Hailey disease, or benign familial pemphigus, is a rare blistering disease originally described in 1939. The disease is due to an autosomal dominant mutation in the ATP2C1 gene on chromosome 3, which encodes for an adenosine triphosphate-dependent calcium pump in the Golgi apparatus whose function is to maintain intercellular calcium homeostasis. Common treatments for Hailey-Hailey disease involve calcineurin inhibitors, topical corticosteroids, topical or systemic antibiotics, topical antifungals, ablative lasers, or botulin toxin. Read More

JAMA 2018 Apr;319(14):1499-1500

Center for Clinical Studies, Webster, Texas.

Biochim Biophys Acta Mol Cell Res 2018 Jun 17;1865(6):855-862. Epub 2018 Mar 17.

Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, Belgium. Electronic address:

The Secretory Pathway Ca ATPases SPCA1 and SPCA2 transport Ca and Mn into the Golgi and Secretory Pathway. SPCA2 mediates store-independent Ca entry (SICE) via STIM1-independent activation of Orai1, inducing constitutive Ca influx in mammary epithelial cells during lactation. Here, we show that like SPCA2, also the overexpression of the ubiquitous SPCA1 induces cytosolic Ca influx, which is abolished by Orai1 knockdown and occurs independently of STIM1. Read More

Eur J Intern Med 2018 07 5;53:e4-e5. Epub 2018 Jan 5.

Dermatology Unit, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Malaysia.

Perm J 2017 ;22

Dermatologist at the Los Angeles Medical Center in CA.

Introduction: Hailey-Hailey disease is an adult-onset skin condition characterized by lesions in the intertriginous regions of the body. The lesions can be pruritic, painful, and associated with physical and social impairment.

Case Presentation: We present a case of psoriasiform Hailey-Hailey disease in a 60-year-old white woman who exhibited erythematous psoriasiform plaques in many areas of her body. Read More

An Bras Dermatol 2017 May-Jun;92(3):439-440

Department of Pathology at Hospital Universitari Sagrat Cor - Grupo Quirónsalud - Barcelona, Spain.

Eur J Dermatol 2017 12;27(6):659-660

First Dermatology Department, Aristotle University of Thessaloniki, Delfon 124, 54643, Thessaloniki, Greece.

Med Sci Monit Basic Res 2017 Nov 6;23:352-361. Epub 2017 Nov 6.

Department of Dermatology, Chongqing Hospital of Traditional Chinese Medicine (The First People's Hospital of Chongqing City), Chongqing, China (mainland).

BACKGROUND Hailey-Hailey disease (HHD) is a rare autosomal dominant skin condition. The ATP2C1 gene was identified as the defective gene in HHD. To date, 166 pathogenic mutations in ATP2C1 have been observed worldwide. Read More

Br J Dermatol 2018 May 23;178(5):1196-1198. Epub 2018 Feb 23.

Department of Dermatology, Wing D, Belfast City Hospital, Lisburn Rd, Belfast, BT9 7AB, U.K.

Hailey-Hailey disease (chronic benign familial pemphigus) is a rare inherited dermatosis typically characterized by erosions at intertriginous sites preceded by minor trauma or stress. We report a case of treatment-resistant Hailey-Hailey disease having failed topical and oral steroids, prophylactic aciclovir and doxycycline, and systemic therapies including dapsone, acitretin and ciclosporin. Low-dose naltrexone 4·5 mg once daily was commenced following an incidental benefit in this patient's similarly affected sister. Read More

Skin Res Technol 2018 Feb 7;24(1):85-92. Epub 2017 Aug 7.

Department of Dermatology, Hospital de Santa Maria, Lisbon, Portugal.

Background/purpose: Hailey-Hailey disease is a rare inherited acantholytic skin disorder characterized by heterogeneous clinical presentation. Its differential diagnosis might be wide, including other genodermatoses, inflammatory, and infectious skin diseases. Although histopathology remains as diagnostic gold standard, noninvasive techniques such as dermoscopy and reflectance confocal microscopy may assist clinical examination. Read More

JAMA Dermatol 2017 10;153(10):1015-1017

Department of Dermatology, Cleveland Clinic Foundation, Cleveland, Ohio.

Importance: Familial benign pemphigus, or Hailey-Hailey disease (HHD), is a rare and debilitating genetic dermatosis characterized by chronic, recurrent vesicles, erosions, and maceration in flexural areas. Despite the reported therapeutic modalities, such as topical and systemic corticosteroids, systemic immunomodulators, topical and systemic retinoids, and laser, HHD can still be markedly difficult to control.

Objective: To assess low-dose naltrexone hydrochloride in the treatment of recalcitrant HHD. Read More

JAMA Dermatol 2017 10;153(10):1018-1020

Department of Dermatology, Emory University School of Medicine, Atlanta, Georgia.

Importance: Hailey-Hailey disease is a severe genetic blistering disease of intertriginous skin locations that can lead to poor quality of life and increased morbidities. Multiple therapies are available with inconsistent outcomes and potentially severe adverse effects.

Objective: To determine whether low-dose naltrexone is an effective treatment for Hailey-Hailey disease. Read More

JAMA Dermatol 2017 10;153(10):969-970

Marshfield Clinic, Marshfield, Wisconsin.

Ann Dermatol Venereol 2017 Oct 29;144(10):599-606. Epub 2017 Jun 29.

Service de dermatologie, hôpital Saint-André, 1, rue Jean-Burguet, 33000 Bordeaux, France. Electronic address:

Background: Hailey-Hailey disease (HHD) is characterised by episodes of weeping erythematous lesions, particularly in areas subject to friction or maceration. Treatment is complex. The value of botulinum toxin has been demonstrated in several studies and in individual cases. Read More

Cell Mol Life Sci 2017 10 27;74(20):3687-3696. Epub 2017 May 27.

Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Tongzipo Road 138, Changsha, 410013, Hunan, People's Republic of China.

Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis, characterized by a chronic course of repeated and exacerbated skin lesions in friction regions. The pathogenic gene of HHD was reported to be the ATPase calcium-transporting type 2C member 1 gene (ATP2C1) located on chromosome 3q21-q24. Its function is to maintain normal intracellular concentrations of Ca/Mn by transporting Ca/Mn into the Golgi apparatus. Read More

JAMA Dermatol 2017 10;153(10):1049-1050

Department of Dermatology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.

Am J Dermatopathol 2018 Oct;40(10):749-753

Department of Pathology, Western General Hospital, The University of Edinburgh, Edinburgh, United Kingdom.

The specific histopathologic diagnosis of a primary acantholytic disorder takes into account the distribution and extent of acantholysis, presence or absence of dyskeratosis, nature of the dermal inflammatory cell infiltrate, and immunofluorescence findings. Herpes virus infection is a common cause of secondary acantholysis where distinctive viral cytopathic changes aid in making it a clear-cut diagnosis in majority of cases. We present a case of coexistence of Hailey-Hailey disease and herpes simplex virus infection to compare and contrast their histopathologic features. Read More

J Dermatolog Treat 2017 Nov 2;28(7):678-682. Epub 2017 Apr 2.

a Department of Dermatology and INSERM , University of Montpellier , Montpellier , France.

Introduction/background: Treatment of benign familial pemphigus or Hailey-Hailey disease (HHD), a rare inherited condition associated with a significant impairment of quality of life, is often challenging and disappointing with frequent relapses and infectious complications. Topical photodynamic therapy (PDT) may offer new perspectives in this difficult setting.

Material And Methods: Eight patients with long-lasting HHD lesions refractory to multiple treatments were treated on at least one involved site with PDT using methyl-amino levulinate with a standardized protocol of three sessions of irradiation separated by 3-week intervals. Read More

Indian J Dermatol Venereol Leprol 2017 Mar-Apr;83(2):259-262

Department of Skin and VD, Indira Gandhi Government Medical College, Nagpur, Maharashtra, India.

J Am Acad Dermatol 2017 Feb;76(2S1):S31-S33

Department of Dermatology, University Hospital Hassan II, Fes, Morocco.

Clin Pharmacokinet 2017 08;56(8):815-823

Stadtspital Triemli, Institute of Laboratory Medicine, Zurich, Switzerland.

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. Read More

Hum Mutat 2017 04 15;38(4):343-356. Epub 2017 Feb 15.

Departments of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.

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, whereas the ATP2C1 gene is associated with HHD. Both are inherited as autosomal-dominant traits. Read More

J Cutan Pathol 2016 Nov 22;43(11):1031-1035. Epub 2016 Aug 22.

Department of Dermatology, Yale School of Medicine, New Haven, CT, 06520-8059, USA.

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. Read More

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

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 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

Ear Nose Throat J 2016 Sep;95(9):370

Department of Pathology, Southern California Permanente Medical Group, Woodland Hills Medical Center, Woodland Hills, CA, USA.

Actas Dermosifiliogr 2017 Jan - Feb;108(1):78-79. Epub 2016 Sep 9.

Servicio de Dermatología, Hospital Clínic, Universitat de Barcelona, Barcelona, España.

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

Sci Rep 2016 08 16;6:31567. Epub 2016 Aug 16.

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

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. Read More

Biochim Biophys Acta 2016 11 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

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

Skinmed 2016;14(2):139-40. Epub 2016 Apr 1.

University of Chicago Pritzker School of Medicine, Section of Dermatology, Chicago, IL;

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. Read More

Indian J Dermatol Venereol Leprol 2016 Jul-Aug;82(4):429-31

Department of Dermatology, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu 210042; Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences, Nanjing, Jiangsu 210042, China.

Cell Death Dis 2016 06 9;7(6):e2259. Epub 2016 Jun 9.

Aging Research Center (Ce.S.I.), University 'G. D'Annunzio' of Chieti-Pescara, Chieti 66100, Italy.

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. Read More

JAAD Case Rep 2016 Mar 16;2(2):159-61. Epub 2016 Apr 16.

Department of Dermatology, St. Joseph Mercy Hospital, Ann Arbor, Michigan.

J Dermatol 2016 Oct;43(10):1197-1200

Department of Dermatology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

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. Read More

Indian J Dermatol Venereol Leprol 2016 May-Jun;82(3):306-7

School of Pharmaceutical Science and Technology, Dalian University of Technology, Dalian 116024, China.

Clin Exp Dermatol 2016 07 15;41(5):558-9. Epub 2016 Apr 15.

School of Pharmaceutical Science and Technology, Dalian University of Technology, Dalian, China.

Clin Exp Dermatol 2016 Aug 30;41(6):628-31. Epub 2016 Mar 30.

The Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, NY, USA.

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. Read More