[Acneiform eruptions induced by cetuximab.]

introduction. Many drugs may induce acneiform eruptions: vitamine B12, corticosteroids, androgens, lithium, tuberculostatics, halogens, some antidepressants, anticonvulsives and immunosuppressors. Many cases of acneiform eruptions can be observed following treatment with cetuximab, a drug used for solid cancers at advanced stages in experimental protocols. Case reports. Case 1. A 56 year-old woman, suffering from a colorectal cancer, developed a sudden acneiform eruption after 6 cures of cetuximab, at a one-week interval. She was treated with bisoprolol hemifumarate, sodium levothyroxin, cyproterone acetate and estradiol valerate. Clinical examination revealed inflammatory and follicular papulopustules localized on the face and upper chest. Comedos were absent. Itching sensations were discrete. Histopathological examination of a papulopustule revealed a folliculitis with polymorphonuclear neutrophils. PAS staining did not reveal the presence of bacteria or yeasts. Bacterial and fungal cultures were negative. Lesions faded in approximately 2 weeks following minocycline treatment (100 mg/day). Case 2. A 65 year-old man, treated by cetuximab for a colorectal adenocarcinoma, suddenly developped follicular inflammatory papulopustules on the face, trunk and extensor surfaces of both arms, after 3 weeks of treatment. Itching was discrete. Comedos were absent. Histopathology revealed the presence of a folliculitis with polymorphonuclear neutrophils. Bacteriology and mycology were negative. Lesions were partly controlled by administration of minocycline (100 mg/day) but worsened again in the days following each cure of cetuximab. Discussion. Cetuximab is a monoclonal antibody binding to the epidermal-growth-factor-receptor. It is used in the treatment of solid cancers at advanced stages. Both case reports share some similarities: the development of follicular inflammatory papulopustules distributed on the face and trunk typical, of acneiform drug eruptions. Itching is discrete. Comedos are absent. Quick onset of lesions is the rule. Cetuximab can be added to the list of drugs responsible for acneiform eruption

Hepatitis C virus genotypes in hemodialyzed patients: a multicentric study

The few studies concerning HCV genotypes in hemodialyzed patients concerned small groups of patients, issued from single units. Using the RFLP typing method in the 5' non-coding region (5' NCR), we performed the genotyping of HCV strains of 80 patients issued from 14 Belgian dialysis units. Forty-seven of the 80 patients were also tested by Inno-Lipa II (Innogenetics, Gent, Belgium). Sixty-four of 80 patients (80%) were infected with subtype 1b, 2 (2.5%) with subtype 1a, 6 (7.5%) with subtype 2a and 1 (1%) with subtype 2b; 6 patients (7.5%) showed a type 4 and 2 patients (2.5%) a type 5 infection, respectively. Only 1 patient (1%) showed a mixed infection (1a and 1b). In the 47 patients tested by both methods, we observed a very good agreement (98%) between RFLP and Inno-Lipa II's results. Our multicentric study detected HCV genotypes 4 or 5 in 8/80 (10%) of hemodialyzed patients in Belgium. The substantial prevalence of these genotypes could not be fully explained by a nosocomial spread of HCV infection: indeed, four patients belonged to dialysis units located in different cities, and two appeared infected with distinct subtypes in a same unit. Thus, the discovery of a "rare" HCV genotype in several hemodialyzed patients does not always point to nosocomial HCV transmission

Autosomal dominant polycystic kidney disease in the first year of life. Report of a case with no family history.

Autosomal recessive polycystic kidney disease (RPKD) (also called infantile polycystic kidney disease) and autosomal dominant polycystic kidney disease (DPKD) (or adult form) are the two main types of genetic polycystic kidney diseases (PKD) encountered in children and infants. We report here a case of DPKD with no family history and discuss the main features leading to the differential diagnosis between these two types of PKD, their prognosis and the importance of making the right diagnosis for the genetic counselling

The genetic background of familial adenomatous polyposis. Linkage analysis, the APC gene identification and mutation screening.

Familial adenomatous polyposis (FAP) is an autosomal, dominantly inherited disease that predisposes to colorectal cancer and is characterized by the presence of hundreds to thousands of adenomas covering the colon and rectum. Mapping of the FAP locus to 5q2I-q22 by linkage studies in families ultimately allowed the identification of the APC (Adenomatous Polyposis Coli) gene itself. The APC gene comprises 15 exons with a 9 kilobase RNA transcript and a 312 kilodalton final protein product. This discovery transformed the diagnosis of FAP and offered direct identification of defective gene carriers by mutation screening. Currently used techniques have been successful in detecting mutations in 15 to 67 percent of patients. To date, at least 136 different mutations have been described in 301 unrelated FAP patients, most of which (98%) are translation terminating mutations leading to a truncated final protein product. Promising applications or development of novel procedures, like the protein truncation test (PTT), are under way for the remaining FAP patients. With the exception of the description of a critical boundary in exon 9 for the presence or absence of CHRPE, there are no clear genotype-phenotype relationships, but mutations located in the 5' half of exon 15 seem to lead to a more severe phenotype. Very little is know about the APC protein product function. The APC protein could be involved in cell-to-cell signalling and/or cell adhesion functions. The APC gene is a tumour suppressor gene involved in early stages of sporadic colorectal carcinogenesis. Further understanding of the APC gene function may define a rational approach for early dectection, prevention strategies, assessment of prognosis and treatment of colorectal cancer. In this regard, animal models of FAP like the MIN (Multiple Intestinal Neoplasia) mouse or the APC 1638 mouse, are promising and powerful tools