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BMC Med Genet 2020 Jun 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

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

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

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

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

Indian Dermatol Online J 2019 Sep-Oct;10(5):567-570. Epub 2019 Aug 28.

Department of Dermatology, Mazandaran University of Medical Sciences, Sari, Iran.

Recent anecdotal evidence suggests that oral low-dose naltrexone (LDN) is effective for Hailey-Hailey disease (HHD) but suffers the limitation of immediate relapse following cessation of the medication. With lack of safety data on long-term administration of LDN, we explored the utility of a topical diphenhydramine/ketamine (DK) cream in maintaining the remission achieved with LDN. A 42-year-old male with treatment-refractory HHD remitted with 5 mg naltrexone/day but relapsed on stopping the drug. Read More

JAAD Case Rep 2019 Sep 29;5(9):760-762. Epub 2019 Aug 29.

Division of Dermatology, McGill University Health Centre, Montreal General Hospital, Montreal, Canada.

J Dermatol 2019 Dec 9;46(12):e482-e483. Epub 2019 Sep 9.

Department of Dermatology, Nippon Medical School Chiba Hokusoh Hospital, Inzai, Japan.

J Dermatol 2019 Nov 21;46(11):1024-1026. Epub 2019 Aug 21.

Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, China.

Hailey-Hailey disease (HHD) is a rare autosomal dominant inherited keratosis caused by mutations in ATP2C1. The aim of our study was to identify and analyze the features of the mutations in HHD. We examined 52 Chinese Han cases which were diagnosed as HHD based on their clinical and histological findings. Read More

J Cutan Med Surg 2019 Jul/Aug;23(4):453-454

1 Division of Dermatology, McGill University Health Centre, Montreal General Hospital, QC, Canada.

Pan Afr Med J 2019 5;32:65. Epub 2019 Feb 5.

Department of Dermatology and Venereology at Zhongnan Hospital of Wuhan University, Wuhan City, Hubei Province, China.

Hailey-Hailey disease (HHD) is a rare autosomal dominant hereditary blistering and erosions disorder affecting the intertriginous regions of the body. There is still no treatment protocol for this disease thus clinicians are highly advised to draw up individualized treatment plan. In this case report, we discuss a case of HHD in a 58-year-old Chinese man who was successfully treated with azathioprine in Hubei province. Read More

SAGE Open Med Case Rep 2019 2;7:2050313X19845221. Epub 2019 May 2.

Centre for Medical and Surgical Dermatology, Whitby, ON, Canada.

The Hailey-Hailey disease, or familial benign chronic pemphigus, is an autosomal dominant genodermatosis affecting mainly intertriginous areas. It manifests itself in painful blisters, erosions, and cracks and has a chronic course with frequent flares, significantly impacting patients' quality of life. Presently, there is no cure, but multiple treatment modalities are available. Read More

Cutis 2019 Mar;103(3):157-159

Department of Dermatovenerology, University of Latvia, Riga, Latvia.

Hailey-Hailey disease (HHD) is an autosomal-dominant genodermatosis characterized by crusted macerated erosions, as well as velvety, dry, fissured plaques in the intertriginous areas. No predilection for sex or ethnic group has been reported. The typical age of onset is in the third decade of life. Read More

Dermatol Ther 2019 07 16;32(4):e12945. Epub 2019 May 16.

Department of Dermatology, Venereology & Leprology Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Hailey-Hailey disease is a hereditary blistering disorder characterized by episodic vesicles, pustules, erosions, and maceration mainly in intertriginous areas with generalized eruptions encountered rarely. We present a case of generalized HHD with keratotic papules over flexural areas along with its dermoscopic features; treated successfully with minocycline alone. Read More

J Am Acad Dermatol 2019 08 16;81(2):644-646. Epub 2019 Apr 16.

Dermatology Department, Hospital Clínic de Barcelona, Universidad de Barcelona, Barcelona, Spain. Electronic address:

Dermatol Ther 2019 05 22;32(3):e12892. Epub 2019 Apr 22.

Department of Dermatology, Hospital Clínico Universitario de Valladolid, Valladolid, Spain.

Hailey-Hailey disease (HHD) or chronic benign familial pemphigus is an autosomal dominant genodermatosis with complete penetrance characterized by painful vesicles, erosions, and macerated intertriginous skin. We present a 66-year-old woman with a personal 35-year history of pruritic recurrent vesicles and erosions in both axillae and inguinal folds. HHD was confirmed by cutaneous biopsy. Read More

Skinmed 2019;17(1):44-45. Epub 2019 Mar 19.

Division of Dermatology, Departments of Medicine and Pediatrics, Cooper Medical School of Rowan University, Marlton, NJ.

Curr Drug Targets 2019 ;20(10):1058-1067

Department of Dermatology, Medical University of Warsaw, Koszykowa 82A, 02-008 Warsaw, Poland.

Naltrexone is a competitive opioid receptor antagonist approved as supportive treatment in alcohol dependence and opioid addiction. At a dose of 50-100 mg daily, naltrexone is used off-label in dermatology for the treatment of trichotillomania and different types of pruritus. At a dose as low as 1- 5 mg per day, naltrexone demonstrates immunomodulatory action i. Read More

Chin Med J (Engl) 2019 03;132(6):738-740

Department of Dermatology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.

J Cell Biochem 2019 03 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 Apr;41(4):286-288

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

Clin Exp Dermatol 2020 Jan 7;45(1):104-106. Epub 2019 Jan 7.

Department of Dermatology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

J Am Acad Dermatol 2019 Jun 21;80(6):1746-1752. Epub 2018 Dec 21.

Medical University of South Carolina, Charleston, South Carolina.

Background: Naltrexone in standard and reduced doses is efficacious in many inflammatory and acantholytic disorders.

Objective: We summarized the current data of naltrexone that are relevant to dermatologic practice.

Methods: An English language PubMed literature search was performed using the terms naltrexone, low-dose naltrexone, Hailey-Hailey, psoriasis, lichen planopilaris, alopecia, opioid, opioid receptor, treatment, dermatology, monitoring, side effect, skin, pruritus, cutaneous, acantholytic, and Darier. Read More

J Cell Biochem 2019 03 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.

Cutis 2018 09;102(3):E10-E11

Dermatology Department, University of California, Irvine, USA.

J Cutan Med Surg 2018 Nov/Dec;22(6):660

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

JAMA Dermatol 2018 12;154(12):1453-1456

Department of Dermatology, Université Nice Côte d'Azur, Centre Hospitalier Universitaire Nice, Nice, France.

Importance: Hailey-Hailey disease (HHD) is a rare, autosomal-dominant acantholytic dermatosis characterized clinically by development of recurrent blisters and erosions in friction areas. Despite progression in our understanding of the molecular genetics of HHD, therapy remains suboptimal and there is no known cure.

Objective: To determine whether the novel phosphodiesterase-4 inhibitor apremilast is effective in the treatment of HHD. Read More

Dermatol Ther 2019 01 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

Clin Exp Dermatol 2019 Jun 2;44(4):450-452. Epub 2018 Oct 2.

Department of Dermatology, University Hospital of North Durham, Durham, UK.

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 Dermatol 2019 Apr 3;58(4):500-501. Epub 2018 Aug 3.

Department of Dermatology, Venereology and Allergology, Academic Teaching Department of Medical University Innsbruck, Central Hospital Bolzano/Bozen, Bolzano, Italy.

Actas Dermosifiliogr 2018 Oct 6;109(8):677-686. Epub 2018 Jul 6.

Servicio de Dermatología, Hospital de Manacor, Mallorca, Islas Baleares, España.

Epidermal nevi are hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin; they have traditionally been classified according to their morphology. New variants have been described in recent years and advances in genetics have contributed to better characterization of these lesions and an improved understanding of their relationship with certain extracutaneous manifestations. In the first part of this review article, we will look at nevi derived specifically from the epidermis and associated syndromes. Read More

Br J Dermatol 2018 10 12;179(4):1001-1002. Epub 2018 Aug 12.

Department of Dermatology, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, 64239, Israel.

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

Front Immunol 2018 4;9:1190. Epub 2018 Jun 4.

Department of Dermatology, University of California Irvine, Irvine, CA, United States.

Pemphigus vulgaris (PV) is a potentially life-threatening mucocutaneous autoimmune blistering disease. Patients develop non-healing erosions and blisters due to cell-cell detachment of keratinocytes (acantholysis), with subsequent suprabasal intraepidermal splitting. Identified almost 30 years ago, desmoglein-3 (Dsg3), a Ca-dependent cell adhesion molecule belonging to the cadherin family, has been considered the "primary" autoantigen in PV. 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:

Australas J Dermatol 2019 Feb 13;60(1):73-74. Epub 2018 Jun 13.

Perth Dermatology Clinic, Perth, Western Australia, Australia.

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

Int J Dermatol 2019 Jan 24;58(1):47-49. Epub 2018 May 24.

Dermatology Department, Habib Thameur Hospital, Tunis, Tunisia.

J Dermatol 2018 Nov 9;45(11):e306-e308. Epub 2018 May 9.

Divisions of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

J Eur Acad Dermatol Venereol 2018 Nov 18;32(11):e413-e416. Epub 2018 May 18.

Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

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

Actas Dermosifiliogr 2018 Dec 18;109(10):924-927. Epub 2018 Feb 18.

Servicio de Dermatología, Hospital Luis Lagomaggiore, Mendoza, Argentina; Facultad de Ciencias Médicas, Universidad Nacional de Cuyo, Mendoza, Argentina.

J Dermatol 2018 Jul 31;45(7):e207-e208. Epub 2018 Jan 31.

Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

JAMA Dermatol 2018 03;154(3):362-363

Harvard Medical School, Boston Massachusetts.