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Benign familial chronic pemphigus (BF CP) is an autosomal dominant disorder characterized by recurrent vesicles and plaques mostly over the intertriginous areas. The defect is in the AT P2C1 gene which leads to suprabasilar acantholysis. Pregnancy, physical trauma, excessive sweating, skin infections and exposure to ultraviolet radiation are the important trigger factors. Self-medications or over the counter treatment usually makes a delay in the proper diagnosis.

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; OMIM #169600), also known as benign familial chronic pemphigus, is a rare hereditary condition characterized by the formation of blisters at sites of friction. HHD is caused by mutations in the ATP2C1 gene. We herein describe a patient with HHD who was diagnosed following the exacerbation of skin lesions resulting from contact dermatitis induced by crotamiton. A 67-year-old female was admitted with complaints of itchy eruptions on the right sole, groin and trunk. She had [...]

This study utilized normal and defective epithelial cell cultures and epidermal skin samples to examine intra- and intercellular calcium signaling. The main interests of this thesis were Hailey-Hailey disease (HHD), Darier disease (DD), neurofibromatosis 1 (NF1) and transitional cell carcinoma (TCC). HHD and DD diseases are rare autosomal dominant skin disorders characterized by dissociation of epidermal keratinocytes (acantholysis) at the suprabasal layer of the epidermis. HHD and DD diseases are caused by mutations in the genes encoding the calcium pumps in the Golgi apparatus (hSPCA1) and endoplasmic reticulum (SERCA2b), respectively. Due to these mutations calcium uptake into the Golgi apparatus or ER is diminished, which is believed to cause abnormal cell junction protein processing and dissociation of keratinocytes. This study utilized electron probe microanalysis (EPMA) and demonstrated for the first time that lesional areas of HHD and DD and non-lesional areas of DD epidermis display abnormally low calcium content in the basal cell layer. Furthermore, ATP mediated calcium signaling was impaired in cultured HHD and DD keratinocytes and epidermal ATP receptor localization was disrupted. In conclusion, these results suggest that the low calcium content in the basal cell layer is the reason for suprabasal ruptures in HHD but not necessarily in DD lesions, and that abnormal ATP receptor localization contributes to the calcium signaling defects. NF1 deficient keratinocytes display abnormally low resting cytosolic calcium levels and it has been suggested that the calcium concentration in the lumen of the endoplasmic reticulum is decreased. This study demonstrated that NF1 keratinocytes rely mostly on ATP mediated calcium signaling while normal keratinocytes rely mostly on gap junctional intercellular communication (GJIC). Studies with TCC cells have demonstrated that gap junctions participate in intercellular calcium wave propagation. This thesis demonstrated that the ATP mediated pathway was also operational in calcium wave propagation in normal uroepithelial and TCC cell cultures. Furthermore, impaired calcium wave propagation in the TCC cell culture could be improved through PKC α/βI –isoenzyme inhibition with Gö6976. Gö6976 treatment increased connexin 26 clustering at plasma membrane but did not alter expression level of the protein. This thesis contains a wide repertoire of calcium detection techniques including a new cutting-edge technology for elemental calcium detection of epidermal samples. These techniques can be used for molecular specific analysis of calcium signaling in epithelial cells.

A patient with benign familial chronic pemphigus was treated with cyclosporin at a dose ranging from 2.8 to 3.4 mg/kg per day. There was a clear improvement in the area of skin affected and in exudation and soreness. The response was maintained for 24 weeks but there was a gradual deterioration after treatment was stopped.

Hailey-Hailey disease (benign familial chronic pemphigus) is an autosomal dominant disorder characterized by erosions, blisters, and warty papules localized mainly in intertriginous areas. The disease has a variable course with periods of exacerbation that can be suppressed by topical glucocorticosteroids and antiseptics. However, in recalcitrant cases, surgical procedures appear to be effective. Several authors have reported favorable results obtained by excision of involved skin with subsequent grafting of the defect. 1-5 In 1983 Belhaouari et a1.6 and in 1989 Hamm? described successful dermabrasion in cases of Hailey-Hailey disease resistant to conventional therapy. We report the cases of two patients in whom dermabrasion led to a long-standing absence of skin lesions.

Ultraviolet light (UV) tests with high irradiation doses from a dysprosium lamp were performed on the normal appearing skin of seven patients with benign familial chronic pemphigus (FBCP). The skin of the patients showed a more severe vulnerability when compared with the reactivity of the skin of four healthy control persons. In each case the damaged skin of the patients had, in addition to the destructive features, the diagnostic histological acantholysis of FBCP. There was great variation in individual responses to the provocative irradiation and thus the test cannot be considered practical for accurate diagnostic purposes.

A case is described with features both of Hailey-Hailey and Darier’s disease in a male patient who presented skin lesions since he was 8 years old. The present case is discussed in relation to data obtained from the literature, and a differential diagnosis from Grover’s disease is made.

In 1939 Hailey and Hailey 1 described 4 patients with an apparently new and previously undescribed skin disorder. They stated that they had not found any report of a cutaneous condition characteristic of their cases. They named the condition "benign familial chronic pemphigus." Benign familial chronic pemphigus is characterized by vesicular plaques on the nape and sides of the neck, the axillae, the groin, and the intercrural, genital, perianal, and periumbilical areas, with occasional spread to the scalp and larger areas of the glabrous skin (Figs. 1, 2 and 3). The term "pemphigus" describes the clinical and histopathologic vesicular quality of the disease, but it should not connote a severe generalized blistering disease as is usually indicated by the term. The primary lesion is a vesicle, arising on apparently normal skin. It enlarges rapidlyto become a flaccid bulla. Nikolsky's sign may be positive. The vesicle ruptures, leaving an eroded base which exudes serum and results in a crust formation that strongly resembles impetigo. The lesions tend to spread peripherally, leaving a dry center and producing

Three cases of benign familial chronic pemphigus which were refractory to the usual therapeutic modalities occurred. The patients demonstrated a dramatic response to dapsone (4,4′-diaminodiphenylsulfone).