OBJECTIVE: To investigate the mutations of ATP2C1 gene in Chinese patients with Hailey-Hailey disease (HHD). METHODS: Genomic DNA was extracted from peripheral blood leukocytes. PCR and direct DNA sequencing were used to detect the mutations in all 27 exons of ATP2C1 gene in patients of two Chinese families and a sporadic patient with HHD. RESULTS: Three mutations in ATP2C1 gene were found, including 1 nonsense mutation, 1 deletion/frameshift mutation and 1 missense mutation. All of them were novel mutations. CONCLUSION:All the three mutations could affect the transcription and translation, and further the function of protein encoded by ATP2C1 gene.

Darier disease and hailey-hailey disease.Rom J Morphol Embryol. 2007;48(4):423-6.

Darier disease (DD) and Hailey-Hailey disease (HHD) are autosomal dominantly inherited genodermatosis, caused by mutations in ATP2A2 gene and ATP2C1 respectively. We investigated clinical and laboratory two patients - a men with Darier disease and a woman with Hailey-Hailey disease. The patient with Darier disease has mucosal lesions and dental modifications associated with mild mental retardation. At Hailey-Hailey case, the skin lesions are associated with neuropsychiatric and endocrinologic disorders. In both cases, the mutation is inherited from parents. Even if this diseases have similar features, clinical, genetical and histopathological they are distinct entities.

A case report of Hailey-Hailey disease treated with alefacept (Amevive).Br J Dermatol. 2008 Feb;158(2):399-401. Epub 2007 Oct 17.

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.