Bacterial infection-induced generalized Hailey-Hailey disease successfully treated by etretinate

Hailey-Hailey disease (HHD; familial benign chronic pemphigus) is a hereditary blistering disorder characterized by episodic maceration and erosions mainly in intertriginous areas, and generalized eruptions are rarely seen. We report here a 51-year-old woman with generalized HHD who was successfully treated with oral etretinate. The present case suggests that oral etretinate is effective against the generalized eruptions even in cases in which bacterial infection has triggered the generalization of HHD.     

Experience with photodynamic therapy in Hailey-Hailey disease

Hailey-Hailey disease (HHD) is a rare genodermatosis that is often difficult to treat. This paper reports three patients with HHD treated with one session of photodynamic therapy (PDT) using topical methyl aminolevulinic acid applied under occlusion for 3 hours and red light at 37 J/cm2 for 7.5 minutes. Our results are not successful: all of the patients suffered discomfort during the 3-4 weeks following PDT and only one patient experienced clinical improvement. None of the patients would like to repeat the treatment. PDT is at an exploratory stage; further studies are necessary to determine whether PDT is useful in the treatment of HHD.     

Handicap in Darier's disease and Hailey-Hailey disease

One hundred and thirty-seven patients with Darier's disease and 66 patients with Hailey-Hailey disease completed the Dermatology Life Quality Index (DLQ1). The average DLQI score for Darier's disease was 5.89 (19.6% of the maximum score), median = 4, quartiles: 1.9. The average DLQl score for Hailey-Hailey disease was 6.06 (20.2% ofthe maximum score), median = 5, quartiles: 2.9. The DLQf score did not correlate with the physician's assessment of clinical severity in both diseases, thus emphasizing the importance of remembering the potential for handicap even in patients with disease that seems to be mild. The domains of the questionnaire with the highest mean scores in both diseases were for questions relating to symptoms and feelings. Domains relating to personal relationships and work obtained low mean scores even in severe disease. It is encouraging that most patients with Darier's disease and Hailey-Hailey disease maintain good relationships at work and home and seem to be able to adapt to their skin disease.     

Vertebral hyperostosis associated with etretinate therapy

A 42–year-old woman with long-standing psoriasis developed arthralgias and stiffness after 1 year of etretinate therapy. There was no clinical or radiological evidence of psoriatic arthropathy, but X-rays demonstrated hyperostosis of the thoraco-lumbar spine. Her symptoms resolved on discontinuing etretinate therapy.     

Generalized Hailey-Hailey disease

A woman of 60 developed a generalized erythroderma. The case history revealed classical symptoms of Hailey-Hailey disease for 17 years. Light- and electron microscopic investigations confirmed the diagnosis of generalized Hailey-Hailey disease—an extremely rare condition. Two additional cases with widespread clinical manifestations are presented. These observations underline the fact that the whole epidermis is genetically disturbed and may react to various insults with suprabasal acantholysis.     

Palmoplantar eruption associated with etretinate therapy

Five psoriatic patients developed papular lesions of palms and soles, shortly after beginning treatment with etretinate. Histological examination in two cases was insignificant. The lesions disappeared without tapering the dose of etretinate. The fact that lesions appeared and subsided within a short period may explain why this unusual adverse reaction of etretinate therapy has not been reported previously.     

Systemic retinoid therapy with etretinate in pachyonychia congenita

On the basis of two case-reports it is concluded that the aromatic derivative of retinoic acid, etretinate, is a promising drug in the treatment of pachyonychia congenita.     

Combination therapy for psoriasis with methotrexate and etretinate

Two young male patients with severe erythrodermic psoriasis and pustular episodes have both been successfully treated with a combination of methotrexate and etretinate for a period of 21/2 years. On this regimen, relative clearing of the psoriatic lesions has been achieved with no significant side effects. Neither patient has developed evidence of hepatotoxicity. The safety of and indications for combination therapy with methotrexate and etretinate are discussed, and the recent reports in the literature of experience with this combination regimen are considered.     

Erythema multiforme-like eruptions associated with etretinate therapy

Mucocutaneous side-effects from etretinate are common and are usually dose-dependent, whereas hypersensitivity drug eruptions are rare. Two patients are described in whom erythema multiforme-like eruptions appeared several days after oral intake of etretinate. In one patient etretinate rechallenge again produced the skin eruption. A brief review of the less common skin manifestations of etretinate therapy is provided.     

Skeletal alterations associated with long-term etretinate therapy

Radiographic skeletal examinations were performed in sixteen adult patients who had received etretinate therapy for various keratinizing disorders (psoriasis vulgaris 13, pustular psoriasis 2, pustulosis palmoplantaris 1) over periods ranging from 0.7 to 4.5 years. The total dose of etretinate ranged from 5.1 to 36.5 g. In these patients, the frequency and the degree of skeletal alterations including hyperostosis, calcification of ligaments and periosteal thickening was found to be higher than that in age- and -sex matched, nontreated controls. Furthermore, almost all of these patients were asymptomatic and revealed no abnormalities in laboratory data, including levels of serum calcium, inorganic phosphate and alkaline phosphatase. It is necessary for patients who are undergoing long-term etretinate therapy to be examined regularly for such skeletal abnormalities.     

Chronic active hepatitis associated with etretinate therapy

Acute hepatitis developed in a patient taking etretinate for severe psoriasis. Discontinuation of therapy was followed by progression of the histological changes to chronic active hepatitis, despite improvement of his clinical and laboratory status. This is the third reported case of chronic active hepatitis associated with etretinate therapy, and the second patient in our group of twenty-two etretinate-treated patients with severe psoriasis to develop clinically significant hepatic disease. Immunological evaluation revealed a marked increase in the patient's OKMI-staining population of peripheral mononuclear cells and augmentation of Con A-induced lymphocyte blastogenesis in the presence of etretinate.     

家族性良性慢性天疱疮基因诊断1例

目的:检测一家族性良性慢性天疱疮患者子代ATP2C1基因突变.方法: 应用DNA直接测序的方法对一已经检测到基因突变的家族性良性慢性天疱疮患者的子代进行突变检测,以对患者第三代进行产前咨询.结果:在其子代未发现相同的突变位点.结论: 可以预测患者第三代不会患有家族性良性慢性天疱疮.     

Photodynamic therapy with 5-aminolevulinic acid for recalcitrant familial benign pemphigus (Hailey-Hailey disease)

Familial benign pemphigus is a chronic, recurrent, autosomal dominant blistering disease that may significantly affect quality of life. Surgical methods are often needed to control flares in difficult cases. We describe the use of photodynamic therapy (PDT) with topical 5-aminolevulinic acid (ALA) followed by irradiation with incoherent light (ALA-PDT) in 2 patients with chronic, recalcitrant familial benign pemphigus.     

Hailey-Hailey disease treatment with Botulinum toxin type A

Two sisters with recurrent lesions, one on axillae and other on the groin, and with limited response to classical treatments were treated with injections botulinum toxin type A. We observed marked improvement in the patient treated in the groin and complete remission in the patient treated in the axillae. It was possible to spare the use of systemic antibiotics and topical corticosteroids. The high cost is a restrictive factor to routine use and large studies are necessary to access efficacy and cost benefit profile.