[Unilateral localized bullous pemphigoid following radiotherapy]. / Unilateral lokalisiertes bullöses Pemphigoid nach Radiotherapie.

A 74-year-old woman presented with a four-week history of locally expanding, highly pruritic urticarial plaques, bullae and erosions on her left breast. She had undergone surgery for an infiltrating ductal carcinoma of the same breast six months before and received intra- and postoperative radiotherapy (RT) followed by adjuvant hormonal anticancer treatment. Histopathological, immunological and serological data confirmed the diagnosis of localized bullous pemphigoid (BP) and treatment with systemic and local corticosteroids led to a sustained remission. After excluding other factors, we concluded that RT was the most likely trigger of her localized BP.

[Orogenital and conjunctival involvement in hereditary and autoimmune blistering diseases]. / Schleimhautbeteiligung bei blasenbildenden Erkrankungen.

Chronic involvement of orogenital and conjunctival mucosa in the course of either genetically based (epidermolysis bullosa hereditaria) or auto-immunologically mediated (as for example pemphigus vulgaris, mucous membrane pemphigoid or epidermolysis bullosa acquisita) blistering diseases can cause significant morbidity. To provide accurate care, recognition of clinical, pathogenic and diagnostic features as well as awareness of recent advances in the development of new therapeutic modalities are mandatory and thus will be discussed in this review.

[Hereditary blistering diseases. Symptoms, diagnosis and treatment of epidermolysis bullosa]. / Erbliche blasenbildende Erkrankungen. Klinik, Diagnostik und Therapie der Epidermolyis bullosa.

Hereditary epidermolysis bullosa (EB) is a term for a heterogeneous group of rare genetic disorders characterized by marked fragility of the skin and mucous membranes following minor trauma. Significant progress has been made in understanding the molecular basis of EB, which has far-reaching implications for an improved classification with consequences for prognosis, genetic counseling, DNA-based prenatal and preimplantation testing, and the development of future treatments including gene therapy. Besides mucocutaneous changes, EB leads to a number of systemic manifestations whose management requires multidisciplinary access. Extracutaneous complications include ophthalmologic, dental, gastrointestinal, pulmonary, urogenital, hematologic, and nutritional problems. This article reviews the progress that has been made in the understanding of the molecular basis of EB, clinical aspects of major EB subtypes, and the management of patients suffering from EB, and it gives an outlook on molecular therapy projects such as gene, cell, vector, and protein therapies.

Seven novel mutations in the ATP2A2 gene of Austrian patients with Darier's disease.

Darier's disease (DD, OMIM 124200) is an autosomal dominant inherited genodermatosis characterized by warty papules and plaques in seborrheic areas, and loss of adhesion between suprabasal epidermal keratinocytes (acantholysis) and abnormal keratinisation (dyskeratosis). Till date, more than 150 pathogenic mutations in the ATP2A2 (SERCA2) gene, which encodes the sarcoplasmic/endoplasmic reticulum Ca(2+) ATPase isoform 2, have been identified as the genetic basis of DD. Our report of eight DD patients from Austria add seven novel variants (L32P, 149-158del10 each in two different non-consanguineous patients, S72Y, F73S, K460X, 2734delC, T982 M) to the repertoire of ATP2A2 mutations in the DD database which is in line with previous reports that most mutations are related to the 5'- and the 3'-end of the gene.