Syringoma: A clinicopathological study of 244 cases.

BACKGROUND: Syringomas are benign tumours of the sweat glands, the most familiar clinical presentation of which is the presence of multiple lesions on the eyelids. The aim of our study was to determine the clinical and histological characteristics of a large series of patients and to examine anatomoclinical correlations. PATIENTS AND METHODS: This was a retrospective study conducted in all of the cases of syringoma analysed at the cutaneous histopathology laboratory in Strasbourg between 1970 and 2008. The clinical elements, patient history and diagnostic data were collated. All slides were re-read in order to determine the microscopic characteristics of the lesions. RESULTS: Two hundred and forty-four lesions were included. The sex ratio was 0.27 and the mean age was 42 years (8 to 85 years). Multiple syringomas were noted in 76% of cases, of which 29.2% were eruptive, and one case occurred in a setting of metastatic melanoma. The sites of predilection were the face (56.7%, of which 36.3% on the eyelids), the chest (18.1%) and the neck (17.5%) for the multiple forms. The lesions were in the form of papules (67%), either brown (34.2%) or flesh-coloured (19.8%). Pruritus was reported in 14 cases, including 4 at vulvar sites (out of a total of 8). A diagnosis of syringoma was made by the clinician in only 30.2% of the multiple forms, with mastocytosis being proposed in 7.1% of cases. The clear-cell forms (18 cases) presented no special clinical features. CONCLUSION: Syringomas are frequently multiple and are seen mainly in women. They are found predominantly on the face and trunk, and lesions are generally brown and pruritic, a little-known feature that accounts for the degree of diagnostic confusion with mastocytosis. The vulvar forms, which are often pruritic, are poorly known. The eruptive forms may include a hormonal component.

[Ehler-Danlos syndrome type VIII]. / Syndrome d'Ehlers-Danlos de type VIII.

BACKGROUND: Ehlers-Danlos syndrome (EDS) comprises a heterogeneous group of diseases involving genetic collagen fibre impairment. We describe a case of a patient presenting the rare type VIII, in which dermatitis ocre was associated with parodontal disease, and which was diagnosed late. CASE REPORT: A 29-year-old man consulted for a pretibial ulcer present for seven years, resulting from a post-traumatic haematoma that had failed to heal. In view of the longiliner morphology, it had previously been diagnosed as Marfan syndrome. Subsequently, edentation was observed as well as "alveolar bone fragility". Examination revealed a marfanoid morphotype, a pretibial ulcer set within long-standing bilateral dermatitis ocre and papyraceous scars, but no joint hyperlaxity or cutaneous hyperelasticity. The diagnosis was consequently corrected to EDS type VIII. DISCUSSION: Type VIII is a rare form of EDS, and the molecular mechanism is poorly understood. The involvement of parodontal connective tissue suggests impairment of collagen I and III proteins. It is important to identify this type of the disease since it involves parodontal disease for which early treatment is required in order to try to prevent edentation. The present case demonstrates the importance of diagnosis, which may be based upon appearance of bilateral dermatitis ocre from the age of 15 years associated with skin fragility. This sign is not part of the classical picture of Marfan syndrome, with which EDS type VIII is often confounded.

A novel gene expression signature in peripheral blood mononuclear cells for early detection of colorectal cancer.

BACKGROUND: Early detection and treatment of colorectal adenomatous polyps (AP) and colorectal cancer (CRC) is associated with decreased mortality for CRC. However, accurate, non-invasive and compliant tests to screen for AP and early stages of CRC are not yet available. A blood-based screening test is highly attractive due to limited invasiveness and high acceptance rate among patients. AIM: To demonstrate whether gene expression signatures in the peripheral blood mononuclear cells (PBMC) were able to detect the presence of AP and early stages CRC. METHODS: A total of 85 PBMC samples derived from colonoscopy-verified subjects without lesion (controls) (n = 41), with AP (n = 21) or with CRC (n = 23) were used as training sets. A 42-gene panel for CRC and AP discrimination, including genes identified by Digital Gene Expression-tag profiling of PBMC, and genes previously characterised and reported in the literature, was validated on the training set by qPCR. Logistic regression analysis followed by bootstrap validation determined CRC- and AP-specific classifiers, which discriminate patients with CRC and AP from controls. RESULTS: The CRC and AP classifiers were able to detect CRC with a sensitivity of 78% and AP with a sensitivity of 46% respectively. Both classifiers had a specificity of 92% with very low false-positive detection when applied on subjects with inflammatory bowel disease (n = 23) or tumours other than CRC (n = 14). CONCLUSION: This pilot study demonstrates the potential of developing a minimally invasive, accurate test to screen patients at average risk for colorectal cancer, based on gene expression analysis of peripheral blood mononuclear cells obtained from a simple blood sample.

Secondary DNA structure analysis of the coding strand switch regions of five Leishmania major Friedlin chromosomes.

As part of the EULEISH international genome project, a region of 74,674 nucleotides from chromosome 21 of Leishmania major Friedlin was subcloned and sequenced; and 31 new coding sequences were predicted. Of particular interest was a unique coding strand switching region covering 1.6 kb of DNA; and this was subjected to further investigation. Bioinformatic analysis of this region revealed an unusually high AT composition, a lack of putative hairpins and a strong curvature of the DNA in agreement with the structural characteristics of similar regions of other Leishmania chromosomes. These observations and a comparison with the secondary DNA structure of four other Leishmania chromosomes and chromosomes of different organisms could suggest a functional role of this region in transcription and mitotic division.