BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis.

BAFF, APRIL and BAFF-R are key proteins involved in the development of B-lymphocytes and autoimmunity. Additionally, BAFF, APRIL and BAFFR polymorphisms were associated with immune-mediated conditions, being BAFF GCTGT>A a shared insertion-deletion genetic variant for several autoimmune diseases. Accordingly, we assessed whether BAFF, APRIL and BAFFR represent novel genetic risk factors for Immunoglobulin-A vasculitis (IgAV), a predominantly B-lymphocyte inflammatory condition. BAFF rs374039502, which colocalizes with BAFF GCTGT>A, and two tag variants within APRIL (rs11552708 and rs6608) and BAFFR (rs7290134 and rs77874543) were genotyped in 386 Caucasian IgAV patients and 806 matched healthy controls. No genotypes or alleles differences were observed between IgAV patients and controls when BAFF, APRIL and BAFFR variants were analysed independently. Likewise, no statistically significant differences were found in the genotype and allele frequencies of BAFF, APRIL or BAFFR when IgAV patients were stratified according to the age at disease onset or to the presence/absence of gastrointestinal (GI) or renal manifestations. Similar results were disclosed when APRIL and BAFFR haplotypes were compared between IgAV patients and controls and between IgAV patients stratified according to the clinical characteristics mentioned above. Our results suggest that BAFF, APRIL and BAFFR do not contribute to the genetic network underlying IgAV.

Eccrine porocarcinoma with extensive cutaneous metastases.

BACKGROUND: Eccrine porocarcinoma (EPC) is an uncommon malignant neoplasm that originates in the intraepidermal portion of the eccrine sweat duct. Although porocarcinoma is a slow-growing tumor, up to 20% of cases can metastasize to regional lymph nodes, thus increasing mortality. METHODS: We describe the clinical and histopathological features and clinical course of three cases of extensive metastatic EPC diagnosed in our department over the last 10 years. RESULTS: All three patients were women aged 89-96 years. They had numerous skin tumors on the left leg that were histologically and immunohistochemically diagnosed as metastatic EPC. Only one patient had a history of primary porocarcinoma, which had been excised 6 years earlier. The remaining two patients had a previous lesion diagnosed as squamous cell carcinoma. We treated the patients with palliative radiotherapy and/or chemotherapy. Only one patient is currently alive. CONCLUSIONS: The cases of cutaneous and regional metastatic EPC we present occurred in elderly women with major involvement of the left leg. The third case is noteworthy, as the patient presented a long latency period before metastases appeared. Difficulties in the clinical diagnosis--and occasionally histological diagnosis--of primary EPC could delay more aggressive treatment, although optimal treatment does not always guarantee a good prognosis.

Phototolerance induced by narrow-band UVB phototherapy in severe erythropoietic protoporphyria.

Erythropoietic protoporphyria arises from an inherited disorder of porphyrin metabolism which leads to an accumulation of protoporphyrin IX in the erythropoietic system and other tissues. It is characterized by cutaneous photosensitivity, usually difficult to keep under control. Among the scant therapeutic options proposed to reduce photosensitivity in erythropoietic protoporphyria, narrow-band UVB phototherapy has occasionally been used to induce sunlight tolerance. We report an adult case of erythropoietic protoporphyria with a severe photosensitivity treated with narrow-band UVB that developed an appropriate sunlight phototolerance, without adverse events during phototherapy.

Retinal toxic reactions following photopheresis.

BACKGROUND: Extracorporeal photochemotherapy (ECP), also known as photopheresis, is a generally well-tolerated therapeutic, immunomodulatory approach successfully used in cutaneous T-cell lymphoma and other diseases produced by T-lymphocytes such as graft vs host disease. OBSERVATIONS: On 2 separate occasions, a 54-year-old white man with Sézary syndrome developed cutaneous phototoxic reactions and chorioretinitis after being treated with ECP. A pharmacokinetic study showed therapeutic blood levels of 8-methoxypsoralen as long as 18 weeks after therapy had been terminated. However, the analysis of mutations in genes involved in the drug's disposition could not explain these abnormal levels. CONCLUSIONS: To our knowledge, there has been no previous description of ECP-related retinal toxic effects. This adverse effect was probably linked to impaired drug elimination. Further studies would be needed to determine the underlying mechanism.

[Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK syndrome)]. / Queratosis linear con ictiosis congénita y queratodermia esclerosante (síndrome KLICK).

We describe the case of a 32-year-old male patient who had presented from birth with generalized ichthyosiform dermatosis, palmoplantar keratoderma with constrictive bands around the fingers and keratotic plaques in a linear arrangement, located in the large skin folds. The dermatopathological examination showed orthokeratotic hyperkeratosis and epidermal hyperplasia with hypergranulosis. No other members of the patient's family were affected. With these clinical and histological findings, the diagnosis was keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK syndrome). The patient rejected treatment with oral retinoids and was treated with emollients and 30 % urea creams, with little clinical response.