Disease relevance of Pemphigus, Benign Familial

• Hailey-Hailey disease (HHD) is a blistering skin disease caused by malfunction of the Ca2+-dependent ATPase, ATP2C1 [1].
• We examined the distribution of desmosomal components, proteases and cytokeratins in cantharidin blisters, to compare them with those previously found in Darier's disease and Hailey-Hailey disease [2].
• Photodynamic therapy with 5-aminolevulinic acid for recalcitrant familial benign pemphigus (Hailey-Hailey disease) [3].
• The changes in the expression of plasminogen, fibrinogen, urokinase and cytokeratins in acantholytic cells in cantharidin-induced blisters are, as in Darier's disease and Hailey-Hailey disease, probably secondary to acantholysis, and changes in the shape of cells [2].
• Our diagnosis by histological examination revealed the vulval carcinoma to be a squamous cell carcinoma (SCC), adjacent to lesions of Hailey-Hailey disease and severe dysplasia/carcinoma in situ [vulval intraepithelial neoplasia (VIN) III] [4].

High impact information on Pemphigus, Benign Familial

• Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease [5].
• ATP2C1, encoding the human secretory pathway Ca2+/Mn2+ ATPase (hSPCA1), was recently identified as the defective gene in Hailey-Hailey Disease (HHD), an autosomal dominant skin disorder characterized by persistent blisters and erosions [6].
• Hailey-Hailey disease responsive to topical calcitriol [7].
• 1alpha,24-dihydroxyvitamin D3 (tacalcitol) is effective against Hailey-Hailey disease both in vivo and in vitro [8].
• Topical cyclosporine in chronic benign familial pemphigus (Hailey-Hailey disease) [9].

Chemical compound and disease context of Pemphigus, Benign Familial

• Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump [10].
• Knock down of pmr-1 as well as overexpression of truncated Caenorhabditis elegans PMR1, which mimics dominant mutations observed in human Hailey-Hailey disease, renders the worm highly sensitive to EGTA and Mn2+ [11].
• Hailey-Hailey disease: response to vitamin E therapy [12].
• Successful management of Hailey-Hailey disease with potent topical steroid ointment [13].
• Treatment of Hailey-Hailey disease with tacrolimus ointment and clobetasol propionate foam [14].

Biological context of Pemphigus, Benign Familial

• Mutations of ATP2C1 in Japanese patients with Hailey-Hailey disease: intrafamilial and interfamilial phenotype variations and lack of correlation with mutation patterns [15].

Anatomical context of Pemphigus, Benign Familial

• Histopathology of a representative lesion revealed epidermal acantholysis with multiple acantholytic keratinocytes with in the prickle cell layer and an absence of corp ronds and grains, consistent with features of Hailey-Hailey disease [16].

Gene context of Pemphigus, Benign Familial

• Human secretory pathway Ca2+/Mn2+-ATPase (SPCA) 2 encoded by ATP2C2 is only expressed in a limited number of tissues, unlike the ubiquitously expressed SPCA1 pump (encoded by ATP2C1, the gene defective in Hailey-Hailey disease) [17].
• The causes of Darier disease (DD) and Hailey-Hailey disease (HHD) have eluded clinicians and scientists for more than 60 years [18].
• Hailey-Hailey disease (HHD, MIM 16960) is inherited in an autosomal dominant manner and characterized by persistent blisters and erosions of the skin [5].
• Regarding the patient's susceptibility to infection in the case of Hailey-Hailey disease, there is a possibility that HPV was inoculated into the lesions of Hailey-Hailey disease and induced those of VIN III and SCC [4].

References