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Hailey Disease (hailey + disease)

Distribution by Scientific Domains

Medical Sciences	87%

Selected Abstracts

Calcium and magnesium competitively influence the growth of a PMR1 deficient Saccharomyces cerevisiae strain

FEMS MICROBIOLOGY LETTERS, Issue 2 2005
Réka Szigeti
Abstract PMR1, the Ca2+/Mn2+ ATPase of the secretory pathway in Saccharomyces cerevisiae was the first member of the secretory pathway Ca2+ ATPases (SPCA) to be characterized. In the past few years, pmr1, yeast have received more attention due to the recognition that the human homologue of this protein, hSPCA1 is defective in chronic benign pemphigus or Hailey,Hailey disease (HHD). Recent publications have described pmr1, S. cerevisiae as a useful model organism for studying the molecular pathology of HHD. Some observations indicated that the high Ca2+ sensitive phenotype of PMR1 defective yeast strains may be the most relevant in this respect. Here we show that the total cellular calcium response of a pmr1, S. cerevisiae upon extracellular Ca2+ challenge is decreased compared to the wild type strain similarly as observed in keratinocytes. Additionally, the novel magnesium sensitivity of PMR1 defective yeast is revealed, which appears to be a result of competition for uptake between Ca2+ and Mg2+ at the plasma membrane level. Our findings indicate that extracellular Ca2+ and Mg2+ competitively influence the intracellular Ca2+ homeostasis of S. cerevisiae. These observations may further our understanding of HHD. [source]

A novel mutation in the ATP2C1 gene is associated with Hailey,Hailey disease in a Chinese family

INTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 1 2009
Zhou Jiang Liu MD
Background, A three-generation Chinese family with Hailey,Hailey disease (HHD) was identified and characterized. The proband developed HHD with severe recurrent blisters and crusted erosions involving the body folds. Skin biopsy studies showed epidermal hyperkeratosis and defects in cell-to-cell adhesion. Three other members in the family were also affected with HHD and had the same clinical manifestations. The purpose of this study was to identify the pathogenic gene or mutation in the family. Methods, All exons and exon,intron boundaries of ATP2C1 were polymerase chain reaction (PCR) amplified and sequenced with DNA samples from the proband. Restriction fragment length polymorphism (RFLP) analysis for the intron 23,exon 24 boundary of ATP2C1 was performed in all family members and in 100 normal control subjects. Results, A novel 2-bp deletion (c.2251delGT) was detected in exon 24 of the ATP2C1 gene. The mutation was present in the three other affected family members and in two asymptomatic young carriers, but not in the other normal family members or the 100 normal controls. The mutation resulted in a frameshift change and led to the formation of a premature termination codon (PTC) four amino acid residues downstream from the sixth transmembrane domain. Conclusions, Our results indicate that the novel c.2251delGT (p.V751fs) mutation in the ATP2C1 gene is responsible for HHD in this Chinese family. This study expands the spectrum of ATP2C1 mutations associated with HHD. [source]

Botulinum toxin in dermatology , beyond wrinkles and sweat

JOURNAL OF COSMETIC DERMATOLOGY, Issue 4 2005
Uwe Wollina
Summary Botulinum toxin (BTX) types A and B have been used with success in cosmetic dermatology and hyperhidrosis treatment. The present review focuses on other uses of BTX in dermatology. Discussed in particular are the available data on BTX in inflammatory diseases, proctology, and some other indications. From studies in various types of eczema, it seems that BTX-A not only acts as a potent inhibitor of acetylcholine but also as an inhibitor of substance P and of glutamate as well. By those mechanisms, BTX-A may be antipruritic, which may help explain the benefits of BTX-A in lichen simplex and dyshidrotic hand eczema. In Hailey,Hailey disease, facial eccrine hidrocystomas, salivary fistulas, and intrinsic rhinitis, BTX-A blocks the secretion of sweat/saliva/mucus. BTX-A has important applications in proctology where it has become the most powerful nonsurgical therapy for anal fissures. In proctalgia fugax and after hemorrhoidectomy, BTX-A is analgesic. Current treatment applications of BTX-A and its limitations are reviewed in this paper. [source]

Heterogeneous mutations of the ATP2C1 gene causing Hailey,Hailey disease in Hong Kong Chinese

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 10 2010
TS Cheng
Abstract Background, Hailey,Hailey disease (HHD) is a rare autosomal dominant dermatosis. It causes suprabasilar acantholysis leading to vesicular and crusted erosions affecting the flexures. Mutation of ATP2C1 gene encoding the human secretory pathway Ca2+/Mn2+ -ATPase (hSPCA1) was identified to be the cause of this entity. Objective, The aim of this study was to study the mutational profile of the ATP2C1 gene in Hong Kong Chinese patients with HHD. Methods, Patients with the clinical diagnosis of HHD proven by skin biopsy were included in this study. Mutation analysis was performed in 17 Hong Kong Chinese patients with HHD. Results, Ten mutations in the ATP2C1 gene were found. Six of these were novel mutations. The novel mutations included a donor splice site mutation (IVS22+1G>A); a missense mutation (c.1049A>T); two deletion mutations (c.185_188delAGTT and c.923_925delAAG); an acceptor splice site mutation (IVS21-1G>C) and an insertion mutation (c.2454dupT). Conclusion, The six novel mutations provide additions to the HHD mutation database. No hot-spot mutation was found and high allelic heterogeneity was demonstrated in the Hong Kong Chinese patients. [source]

A case report of Hailey,Hailey disease treated with alefacept (Amevive®)

BRITISH JOURNAL OF DERMATOLOGY, Issue 2 2008
D.S. Hurd
Summary Hailey,Hailey disease (chronic benign familial pemphigus) is a chronic, recurrent blistering disorder characterized clinically by erosions occurring primarily in intertriginous regions and histologically by suprabasilar acantholysis. We report a case of Hailey,Hailey disease initially unresponsive to multiple topical corticosteroids, tetracycline, dapsone, ciclosporin, isotretinoin, prednisone, methotrexate, topical ciclopirox, tazarotene cream, pimecrolimus cream and tacrolimus ointment. Partial response of this patient's perineal disease was achieved with Amevive® 15 mg weekly for 12 weeks, intramuscularly. To our knowledge, this case represents the first such published report of successful treatment of Hailey,Hailey disease using alefacept. [source]