Genital and lingual warts in small cetaceans from coastal Peru

We report on genital warts in dusky dolphins Lagenorhynchus obscurus, long-snouted common dolphins Delphinus capensis, bottlenose dolphins Tursiops truncatus and Burmeister's porpoises Phocoena spinipinnis caught in fisheries off central Peru. Lesions were observed inside the genital slit, on the skin adjacent to it, on the penis and on the vagina. Macro- and microscopical features of the lesions resemble those of benign genital warts associated with papillomavirus infection in humans. Genital warts from L. obscurus and P. spinipinnis contained nuclei which stained positive for genus-specific papillomavirus structural antigens, though weakly in the latter species. These data suggest that papillomavirus(es) may be the etiological agent(s) of the disease. The prevalence of the lesions in 130 small cetaceans was high: 66.7% (confidence interval, CI, 57.0 to 74.0%) in L. obscurus (n = 78), 50% in D. capensis (n = 10), 33% in T. truncatus (n = 9) and 48.5% (CI 33.0 to 64.0%) in P. spinipinnis (n = 33). This suggests a venereal transmission of the disease, as in humans. Sexual variation in wart prevalence was found in L. obscurus and P. spinipinnis with males being 2 and 3 times more infected than females, respectively. No correlation was observed between body length (as a measure of age) and wart prevalence, suggesting that no strong and long-lasting immunity was induced in affected animals or that they may have been infected by different types of papillomaviruses. Lingual tumours were seen in 1 D. capensis

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.

Autosomal recessive cutis laxa type I (ARCL type I) is characterized by generalized cutis laxa with pulmonary emphysema and/or vascular complications. Rarely, mutations can be identified in FBLN4 or FBLN5. Recently, LTBP4 mutations have been implicated in a similar phenotype. Studying FBLN4, FBLN5, and LTBP4 in 12 families with ARCL type I, we found bi-allelic FBLN5 mutations in two probands, whereas nine probands harbored biallelic mutations in LTBP4. FBLN5 and LTBP4 mutations cause a very similar phenotype associated with severe pulmonary emphysema, in the absence of vascular tortuosity or aneurysms. Gastrointestinal and genitourinary tract involvement seems to be more severe in patients with LTBP4 mutations. Functional studies showed that most premature termination mutations in LTBP4 result in severely reduced mRNA and protein levels. This correlated with increased transforming growth factor-beta (TGFβ) activity. However, one mutation, c.4127dupC, escaped nonsense-mediated decay. The corresponding mutant protein (p.Arg1377Alafs(*) 27) showed reduced colocalization with fibronectin, leading to an abnormal morphology of microfibrils in fibroblast cultures, while retaining normal TGFβ activity. We conclude that LTBP4 mutations cause disease through both loss of function and gain of function mechanisms

Age- and Body Mass Index-Related Changes in Cutaneous Shear Wave Velocity

BACKGROUND: The in vivo visco-elastic characteristics of skin depend on a series of physiopathological parameters. Among them, the age-related intrinsic tensile properties and the preconditioning of the tissues set under tension by the hypodermal volume might be of importance. AIMS: To revisit the influence of age and body mass on the firmness and mechanical anisotropy of the skin as determined by the velocity of the shear wave propagation. METHOD: Resonance running time measurements (RRTM) were performed on the mid volar forearm in 110 adults of both sexes. In each subject 16 RRTM were collected at four different precise angles with regard to the limb axis. We recorded the lowest, the highest and the mean multidirectional RRTM as well as the coefficient of variation (CV) of the latter value. In addition, the body mass index (BMI) was calculated. RESULTS: Age and BMI did not influence the minimum RRTM. In contrast, the maximum RRTM as well as the mean and CV of the multidirectional RRTM, significantly rose in a progressively increasing proportion of the subjects older than 60 years. These changes were only encountered in subjects with a normal BMI ranging from 18 to 25. Sex-related differences were not disclosed. CONCLUSIONS: The intrinsic skin tension lines identified by the minimum RRTM are not significantly altered with age and BMI variations. In contrast, skin laxity identified by larger maximum and mean multidirectional RRTM may increase after 60 years of age in subjects with a normal BMI. This is accompanied by increased skin mechanical anisotropy identified by CV values of the multidirectional RRTM over 40%

Syndrome d'ehlers-danlos de type hypermobile : Une atteinte multi-systémique : Apport de l'ultrastructure cutanée pour une prise en charge personnalisée

Ehlers-Danlos syndrome (EDS) represents a heterogeneous group of disorders of the connective tissue structure. Currently, several types are distinguished following a limited set of clinical signs and genetic mutations. However, there is a lack of specificity of most recognized genetic alterations with the current clinical typing. In addition, the criteria from dermatopathology, ultrastructure and biomechanics are not considered. In addition, the established EDS frontiers are hazardous because a series of anatomo-clinical signs are not considered in the classical EDS concept. The hypermobile type EDS represents an example of the diagnostic uncertainties. It results that guidelines based on evidence-based medicine cannot be established. Only an individual management can be offered to the concerned patients

Skin compatibility of cyclodextrins and their derivatives: a comparative assessment using a corneoxenometry bioassay.

Few studies have been performed to assess the risk of skin damage by cyclodextrins (CD) and they have yielded contradictory results. The present study was conducted using the corneoxenometry bioassay on human stratum corneum to compare the skin compatibility of CD currently used in pharmaceutical preparations (betaCD, gammaCD, Rameb, Dimeb, Trimeb, HP-betaCD and HP-gammaCD) and that of new amphiphilic CD derivatives, namely, the phospholipidyl-CD (DMPE-Dimeb and DMPE-Trimeb). All the tested CD were well tolerated by the stratum corneum at a concentration of 5%. However, inter-individual reactivity was larger for DMPE-Dimeb, suggesting a more aggressive trend for this compound. Cutaneous Index of Mildness values obtained confirm that Dimeb is able to extract some skin components and shows that DMPE-Dimeb performs similarly