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


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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12881-020-01056-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268385PMC
June 2020
2.083 Impact Factor

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

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7159308PMC

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.abd.2019.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058835PMC

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/molecules24244427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6943548PMC
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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7759/cureus.5907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6853267PMC
October 2019

Low-Dose Naltrexone-Induced Remission in Hailey-Hailey Disease Maintained in Remission with Topical Combination of Ketamine and Diphenhydramine.

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

View Article

Download full-text PDF

Source
http://www.idoj.in/text.asp?2019/10/5/567/259295
Publisher Site
http://dx.doi.org/10.4103/idoj.IDOJ_453_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6743391PMC
August 2019
10 Reads

Hailey-Hailey disease treated successfully with naltrexone and magnesium.

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.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S23525126193030
Publisher Site
http://dx.doi.org/10.1016/j.jdcr.2019.06.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6728728PMC
September 2019
9 Reads

Case of Hailey-Hailey disease with a novel missense/in-frame deletion mutation in ATP2C1 successfully treated with cyclosporine.

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1346-8138.15081DOI Listing
December 2019
2 Reads

Review of 52 cases with Hailey-Hailey disease identified 25 novel mutations in Chinese Han population.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1346-8138.15055DOI Listing
November 2019
2 Reads

Naltrexone for the Treatment of Darier and Hailey-Hailey Diseases.

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1203475419843122DOI Listing
May 2020
3 Reads

Hailey-Hailey disease: the role of azathioprine an immunomodulator.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.11604/pamj.2019.32.65.17877DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6560993PMC
July 2019
19 Reads

Treatment of Hailey-Hailey disease with narrowband phototherapy and acitretin: A case report.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/2050313X19845221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501477PMC
May 2019
7 Reads

Hailey-Hailey disease: a diagnostic challenge.

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

View Article

Download full-text PDF

Source
March 2019
4 Reads

Generalized Hailey-Hailey disease with flexural keratotic papules: An interesting presentation and remarkable response with minocycline.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dth.12945DOI Listing
July 2019
2 Reads
1.478 Impact Factor

Low-dose naltrexone therapy in benign chronic pemphigus (Hailey-Hailey disease): A case series.

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:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01909622193061
Publisher Site
http://dx.doi.org/10.1016/j.jaad.2019.04.024DOI Listing
August 2019
28 Reads

Use of low-dose naltrexone in the treatment of severe Hailey-Hailey disease: One case report.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dth.12892DOI Listing
May 2019
25 Reads

Naltrexone Therapy for Hailey-Hailey Disease: Confirming My Addiction to Evidence-Based Medicine.

Authors:
Warren R Heymann

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.

View Article

Download full-text PDF

Source
July 2019
6 Reads

The Use of Naltrexone in Dermatology. Current Evidence and Future Directions.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2174/1389450120666190318121122DOI Listing
January 2019
47 Reads

Hailey-Hailey disease with lichenoid lesions around the anus.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/CM9.0000000000000097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416013PMC
March 2019
4 Reads
1.016 Impact Factor

A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease.

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/jcb.27640
Publisher Site
http://dx.doi.org/10.1002/jcb.27640DOI Listing
March 2019
59 Reads

Hailey-Hailey-Like Pattern of Acantholysis on the Scalp Should Raise the Possibility of Incipient Pemphigus Vulgaris.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/DAD.0000000000001298DOI Listing
April 2019
29 Reads

Crusted papules on the neck after cryotherapy.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ced.13890DOI Listing
January 2020
37 Reads

The uses of naltrexone in dermatologic conditions.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaad.2018.12.031DOI Listing
June 2019
11 Reads

Altered levels of focal adhesion and extracellular matrix-receptor interacting proteins were identified in Hailey-Hailey disease by quantitative iTRAQ proteome analysis.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jcb.27662DOI Listing
March 2019
26 Reads

Safety of Topical Calcineurin Inhibitors for Hailey-Hailey Disease-Reply.

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

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

View Article

Download full-text PDF

Source
http://jama.jamanetwork.com/article.aspx?doi=10.1001/jama.20
Publisher Site
http://dx.doi.org/10.1001/jama.2018.9558DOI Listing
September 2018
11 Reads

Safety of Topical Calcineurin Inhibitors for Hailey-Hailey Disease.

Authors:
Fei Han

JAMA 2018 09;320(11):1200

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jama.2018.9554DOI Listing
September 2018
4 Reads

Inframammary macerated erosion.

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

Dermatology Department, University of California, Irvine, USA.

View Article

Download full-text PDF

Source
September 2018
6 Reads

Dermatology and Basic Research: An Art Superimposed in Science.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1203475418798019DOI Listing
March 2020
6 Reads

Treatment of Severe Hailey-Hailey Disease With Apremilast.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamadermatol.2018.2191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6583319PMC
December 2018
9 Reads

Hailey-Hailey disease successfully treated with vitamin D oral supplementation.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dth.12767DOI Listing
January 2019
112 Reads

Acitretin as a successful treatment for Hailey-Hailey disease.

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

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/ced.13762
Publisher Site
http://dx.doi.org/10.1111/ced.13762DOI Listing
June 2019
1 Read

Segmental Hailey-Hailey disease of the vulva.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.13625DOI Listing
November 2018
6 Reads

Generalized familial benign chronic pemphigus (Hailey-Hailey disease) treated successfully with low-dose naltrexone.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jdcr.2018.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113657PMC
August 2018
8 Reads

Cupping is contraindicated in Haily-Haily disease - the seamy site of alternative medicine.

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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/ijd.14160
Publisher Site
http://dx.doi.org/10.1111/ijd.14160DOI Listing
April 2019
2 Reads
1.230 Impact Factor

Epidermal Nevi and Related Syndromes -- Part 1: Keratinocytic Nevi.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ad.2018.05.005DOI Listing
October 2018
16 Reads

Identification of a recurrent mutation in ATP2C1 demonstrates that papular acantholytic dyskeratosis and Hailey-Hailey disease are allelic disorders.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.16915DOI Listing
October 2018
1 Read

Yeast-Based Screen to Identify Natural Compounds with a Potential Therapeutic Effect in Hailey-Hailey Disease.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms19061814DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032253PMC
June 2018
40 Reads

Non-Desmoglein Antibodies in Patients With Pemphigus Vulgaris.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fimmu.2018.01190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5994403PMC
August 2019
28 Reads

Long-term improvement of recalcitrant Hailey-Hailey disease with electron beam radiation therapy: Case report and review.

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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.prro.2018.02.011DOI Listing
November 2018
3 Reads

Botulinum toxin type A for the first-line treatment of Hailey-Hailey disease.

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

Perth Dermatology Clinic, Perth, Western Australia, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ajd.12852DOI Listing
February 2019
6 Reads

A Case of Hailey-Hailey Disease Managed With Oral Magnesium Citrate and High-Dose Vitamin D.

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

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1177/1203475418756377
Publisher Site
http://dx.doi.org/10.1177/1203475418756377DOI Listing
December 2018
81 Reads

Multiple vegetating plaques on a Cesarean section scar.

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

Dermatology Department, Habib Thameur Hospital, Tunis, Tunisia.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1111/ijd.14044
Publisher Site
http://dx.doi.org/10.1111/ijd.14044DOI Listing
January 2019
6 Reads

Hailey-Hailey disease patient with a novel missense mutation in ATP2C1 successfully treated with minocycline hydrochloride.

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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/1346-8138.14353
Publisher Site
http://dx.doi.org/10.1111/1346-8138.14353DOI Listing
November 2018
7 Reads

Mild Hailey-Hailey disease cases with aberrant splicing variants of ATP2C1 successfully controlled with excimer light.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jdv.15004DOI Listing
November 2018
3 Reads

A 58-Year-Old Man With a Macerated Rash of the Neck and Axilla.

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

Center for Clinical Studies, Webster, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jama.2018.2285DOI Listing
April 2018
9 Reads

Store-independent coupling between the Secretory Pathway Ca transport ATPase SPCA1 and Orai1 in Golgi stress and Hailey-Hailey disease.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbamcr.2018.03.007DOI Listing
June 2018
13 Reads

Narrowband UV-B Phototherapy in the Treatment of Generalized Hailey-Hailey Disease.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ad.2017.11.011DOI Listing
December 2018
2 Reads

Mild case of Hailey-Hailey disease caused by a novel ATP2C1 mutation.

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1346-8138.14241DOI Listing
July 2018
20 Reads

Variable Response to Naltrexone in Patients With Hailey-Hailey Disease.

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

Harvard Medical School, Boston Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamadermatol.2017.5463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885838PMC
March 2018
5 Reads