A severe and refractory case of anti-p200 pemphigoid resulting in multiple skin ulcers and scar formation.

Anti-p200 pemphigoid is a recently described autoimmune blistering skin disease that is characterized by the presence of autoantibodies against an unidentified 200-kDa dermal autoantigen. Most of the previous cases have been successfully treated using mild-to-moderate immunosuppressive therapies, which resulted in a good prognosis. We report here a severe and refractory case of anti-p200 pemphigoid that developed in a 53-year-old woman, in which blisters led to multiple skin ulcers, followed by severe scar formation. In the present case, methylprednisolone pulse therapy was effective enough to reduce the disease activity.

Cutaneous pemphigus vulgaris with skin features similar to the classic mucocutaneous type: a case report and review of the literature.

Pemphigus vulgaris (PV) is a life-threatening autoimmune blistering skin disease that specifically involves oral mucosa. It was recently shown that a very small number of patients with PV show no mucous membrane involvement although they have circulating autoantibodies directed against both desmoglein (Dsg)1 and Dsg3 that are associated with histopathological suprabasal acantholysis. These cases are classed as cutaneous-type PV. We report here a case of cutaneous-type PV that occurred in a 50-year-old man. Clinical examination revealed numerous tense and spreading blisters and erosions over the patient's entire body, similar to the classic mucocutaneous-type PV. Interestingly, none of the previously reported patients with cutaneous PV had shown skin features like those of mucocutaneous PV, whereas the present case clearly demonstrated very typical clinical features similar to those in mucocutaneous PV.

Tumour-like muscular sarcoidosis.

Sarcoidosis is a multisystem granulomatous disease of unknown aetiology with variable manifestations, which may affect virtually any organ. Muscular sarcoidosis is a rare entity, and among this group of muscular lesions, the tumour-like muscular sarcoidosis subtype is extremely rare. We report on two sarcoidosis cases that presented muscular sarcoid lesions with subcutaneous tumours.

Epidermodysplasia verruciformis and generalized verrucosis: the same disease?

We report a patient with epidermodysplasia verruciformis (EV) who had severe generalized verrucous skin lesions for 50 years without any immunological abnormality. Microscopic examination showed two histopathological features, including seborrhoeic keratosis and common warts. The detected human papilloma virus (HPV) types were found to be HPV 3, 50, 5, and 76, using a degenerate PCR method. EV and generalized verrucosis are distinguished by slight differences in clinical symptoms or HPV types, so there should be no apparent differential points common to both diseases. Therefore, we propose that an abnormal susceptibility specific to HPV, which is the most characteristic feature in EV, should be regarded as a differential point in these two diseases.

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.

Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing.

Ichthyosis bullosa of Siemens (IBS, MIM 146800) is a unique congenital ichthyosis characterized by mild epidermal hyperkeratosis over flexural areas, blister formation and the development of superficially denuded areas of hyperkeratotic skin. It is clinically difficult to distinguish severe IBS from mild bullous congenital ichthyosiform erythroderma (BCIE, MIM 113800). In the current literature, 19 IBS families with keratin 2e (K2e) mutations have been reported, despite only five IBS families having been reported before the first identification of K2e mutation in 1994. We studied four patients from three Japanese IBS families. They had previously been misdiagnosed as having BCIE before the correct diagnosis was made after mutation detection. To detect the pathogenic mutations, we performed direct sequencing of the entire coding regions of KRT2E encoding K2e in the patients and healthy family members. K2e mutations, a 1469T-->C transition (L490P) and a 1477G-->A transition (E493K) within the conserved 2B helix termination motif of the rod domain were detected in the families and the definite diagnosis of IBS was made in the four cases. The present results indicate that IBS is not such a rare entity as was previously thought, and accurate diagnosis is now available by mutation analysis.