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Hailey-Hailey disease (HHD), or familial benign chronic pemphigus, is a rare inherited acantholytic dermatosis. It is an autosomal dominant disease affecting the intertriginous areas. HHD has been characterized by flaccid blisters, erosions, and macerations that are limited to flexural (friction-prone) areas. The painful blisters and erosions significantly decrease patients’ quality of life. There are multiple types of therapy related to this disorder. Many of the studies have suggested benefits from steroid therapy in addition to oral antibiotics.

Hailey–Hailey disease is a rare autosomal dominant acantholytic disorder due to mutation in the ATP2C1 gene and presents with flaccid blisters in intertriginous regions. Its chronic and relapsing course may negatively impact patients’ quality of life. Multiple medical and interventional treatments have been described with various efficacy. Low-dose naltrexone and oral magnesium chloride represent emerging treatments. Sustained improvement in Hailey–Hailey disease has been reported with the former in case series, while others have shown variable results. Oral magnesium chloride has been reported in four patients with possible results after 2–4 weeks. Two recent cases suggest that the combination of both treatments may have a synergistic effect. Herein, we present a 63-year-old woman with long-standing and recurrent bilateral inguinal Hailey–Hailey disease who significantly improved with low-dose naltrexone and oral magnesium chloride, representing the third case described with this combination.

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. Methods Genomic DNA was extracted from peripheral blood of HHD patients. All exons of ATP2C1 gene in HHD patients were amplified by PCR and the products were purified and sequenced. All related signaling proteins of interest were stained by using skin lesion tissues from HHD patients and miR-203 levels were also determined. Results One synonymous mutation c.G2598A (in exon 26), one nonsense mutation c.C635A and two missense mutations c.C1286A (p.A429D) and c. A1931G (p. D644G) were identified. The nonsense mutation changed codon UCG to stop codon UAG, causing a premature polypeptide chain of the functional region A. The two missense mutations were located in the region P (phosphorylation region) and the Mn binding site of hSPCA1. The level of hSPCA1 was significantly decreased in HHD patients compared to the normal human controls, accompanied by an increase of miR-203 level and a decrease of p63 and HKII levels. Conclusion In our study, we found four mutations in HHD. Meanwhile we found increase of miR-203 level and a decrease of p63 and HKII levels. In addition, Notch1, which was negatively regulated p63, is downregulated. These factors may be involved in the signaling pathways of HHD pathogenesis. Our data showed that both p63 and miR-203 may have significant regulatory effects on Notch1 in the skin.

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. Treatments include topical and/or systemic agents and surgery including laser. This review summarizes the available treatment options.

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.

Hailey-Hailey disease (HHD), or familial benign chronic pemphigus, is an autosomal dominant genodermatosis. In this condition, dysregulation of intracellular calcium homeostasis leads to impaired desmosome function and suprabasilar acantholysis of the epidermis.1 Clinically, this condition presents as intertriginous vesicles, erosions, and weeping, fissured plaques.1 The painful nature of HHD, risk of secondary infection, and malodor can significantly affect a patient's quality of life. The lesions are often difficult to control with topical steroids and antimicrobials, necessitating more aggressive treatments. In previous case reports, ionizing radiation was found to prolong remission of plaques.2, 3, 4 We report the use of electron beam radiation therapy (EBRT) to treat 2 patients with recalcitrant HHD.

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. We describe a case of HHD who was treated with several treatment modalities including antibiotics, corticosteroids, and dapsone earlier and when presented to us had a severe recalcitrant disease. Thalidomide, as a modality of treatment has been successfully used in few cases earlier. Our patient responded well to thalidomide.

Hailey-Hailey disease is an autosomal dominant skin disorder characterized by suprabasal cell separation (acantholysis) of the epidermis. Mutations in ATP2C1, the gene encoding a novel, P-type Ca2+-transport ATPase, were recently found to cause Hailey-Hailey disease. In this study, we used conformation-sensitive gel electrophoresis to screen all 28 translated exons of ATP2C1 in 24 Hailey-Hailey disease families and three sporadic cases with the disorder. We identified 22 different mutations, 18 of which have not previously been reported, in 25 probands. The novel mutations comprise three nonsense, six insertion/deletion, three splice-site, and six missense mutations and are distributed throughout the ATP2C1 gene. Six mutations were found in multiple families investigated here or in our previous study. Haplotype analysis revealed that two of these are recurrent mutations that have not been inherited from a common ancestor. Comparison between genotype and phenotype in 23 families failed to yield any clear correlation between the nature of the mutation and clinical features of Hailey-Hailey disease. The extensive interfamilial and intrafamilial phenotypic variability observed suggests that modifying genes and/or environmental factors may greatly influence the clinical features of this disease.

Medical therapy for Hailey-Hailey disease (HHD) generally only provides temporary suppression. Surgical intervention has been shown to prolong remission, but may lead to significant morbidity. Laser therapy is becoming the preferred method of treatment because of its successful results and lower risk of complications compared to surgical modalities. We report a case of fractional ablative carbon dioxide (CO2) laser treatment for HHD and review the relevant literature. Fractional CO2 laser therapy was performed in our patient with a 14-year history of HHD. No recurrence was observed 5 months after laser therapy in right inframammary and axillary regions. Symptomatic recurrence was noted after treatment of inguinal areas. In conclusion, traditional laser ablation remains the treatment of choice for prolonged remission of recalcitrant plaques in HHD.

Hailey-Hailey disease (HHD) is a rare autosomal dominant genodermatosis characterized by disturbed keratinocyte adhesion. The disease has recently been mapped to a 14 cM region on chromosome 3q. We have further refined the location of the HHD gene by linkage analysis in six HHD families from Germany and Italy using 11 polymorphic microsatellite markers and found no evidence for genetic heterogeneity. We observed complete cosegregation between HHD and marker D3S1587, with a maximal lod score of 4.54. Detailed haplotype analyses allowed us to narrow the interval containing the HHD locus to 5 cM, flanked by D3S1589 and D3S1290.