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Skin Phenotype (skin + phenotype)
Selected AbstractsIs the axilla a distinct skin phenotype?INTERNATIONAL JOURNAL OF COSMETIC SCIENCE, Issue 1 2007A. Watkinson The axillary skin is cosmetically important with millions of consumers daily applying antiperspirant/deodorant products. Despite this, we know virtually nothing about axillary skin or how antiperspirant use impacts upon it. To characterize axillary stratum corneum and determine whether this is a unique skin type, we have evaluated a range of skin parameters, comparing these with the volar forearm. Trans-epidermal water loss and corneosurfametry revealed a reduced barrier function in the axilla. However, application of antiperspirant had no effect upon these barrier properties. High performance thin layer chromatography analysis of stratum corneum lipids demonstrated statistically elevated levels of fatty acids, ceramide and particularly cholesterol in the axilla. This modification of barrier lipid ratios appeared to result in a more ordered lipid lamellae phase behaviour, as determined by attenuated total reflectance Fourier transform infrared spectroscopy, with transition phase changes occurring at higher temperatures. Morphological differences were also seen in the cells of the axillary stratum corneum. Microscopic evaluation of axillary-cornified envelopes revealed them to be smaller, indicative of a shorter stratum corneum turnover. However, there appeared to be no significant difference corneocyte maturation. ,Skin dryness' squamometry measurements indicated that the axillary stratum corneum retained desquamated material on its surface more than on the forearm. This correlated with decreased levels of the desquamatory stratum corneum chymotryptic enzyme in the surface layers of the skin. These results indicate that the axilla has a distinct phenotype. Paper presented at the 22nd IFSCC Congress 2002, Edinburgh, Scotland [source] Familiar occurrence of multiple primary epidermoid cysts and trichostasis spinulosa: a novel skin phenotype associated with inherited sensorineural deafnessJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 3 2010I Brajac No abstract is available for this article. [source] Tumor suppressor gene Co-operativity in compound Patched1 and suppressor of fused heterozygous mutant miceMOLECULAR CARCINOGENESIS, Issue 5 2009Jessica Svärd Abstract Dysregulation of the Hedgehog signaling pathway is central to the development of certain tumor types, including medulloblastoma and basal cell carcinoma (BCC). Patched1 (Ptch1) and Suppressor of fused (Sufu) are two essential negative regulators of the pathway with tumor suppressor activity. Ptch1+/, mice are predisposed to developing medulloblastoma and rhabdomyosarcoma, while Sufu+/, mice develop a skin phenotype characterized by basaloid epidermal proliferations. Here, we have studied tumor development in Sufu+/,Ptch1+/, mice to determine the effect of compound heterozygosity on the onset, incidence, and spectrum of tumors. We found significantly more (2.3-fold) basaloid proliferations in Sufu+/,Ptch1+/, compared to Sufu+/, female, but not male, mice. For medulloblastoma, the cumulative 1-yr incidence was 1.5-fold higher in Sufu+/,Ptch1+/, compared to Ptch1+/, female mice but this strong trend was not statistically significant. Together this suggests a weak genetic interaction of the two tumor suppressor genes. We noted a few rhabdomyosarcomas and pancreatic cysts in the Sufu+/,Ptch1+/, mice, but the numbers were not significantly different from the single heterozygous mice. Hydrocephalus developed in ,20% of the Ptch1+/, and Sufu+/,Ptch1+/, but not in Sufu+/, mice. Interestingly, most of the medulloblastomas from the Sufu+/,Ptch1+/, mice had lost expression of the remaining Ptch1 wild-type allele but not the Sufu wild-type allele. On the contrary, Sufu as well as Gli1 and Gli2 expression was upregulated in the medulloblastomas compared to adult cerebellum in Ptch1+/, and Sufu+/,Ptch1+/, mice. This suggests that Sufu expression may be regulated by Hedgehog pathway activity and could constitute another negative feedback loop in the pathway. © 2008 Wiley-Liss, Inc. [source] Sensitive skin: an epidemiological studyBRITISH JOURNAL OF DERMATOLOGY, Issue 2 2001C.M. Willis Background There is a growing awareness that some individuals exhibit heightened skin sensitivity, particularly on the face, and have a high incidence of adverse reactions to cosmetics and toiletries. Objectives To carry out an epidemiological study to assess the prevalence of sensitive skin and cosmetic-related adverse events in a U.K. population, and to examine possible factors that may be associated with sensitive skin. Methods Self-assessment questionnaires were sent out to 3300 women and 500 men, randomly selected, who were over the age of 18 years and lived within a 10-mile radius of High Wycombe (Bucks.). Fifty non-responder women were also questioned by telephone to ensure that the postal responders were representative of the population as a whole. Results The response rates were 62% for women and 52% for men, with the incidence of self-reported skin sensitivity being 51·4% and 38·2%, respectively. Ten per cent of women and 5·8% of men described themselves as having very sensitive skin. Fifty-seven per cent of women and 31·4% of men had experienced an adverse reaction to a personal product at some stage in their lives, with 23% of women and 13·8% of men having had a problem in the last 12 months. Among the women, symptoms of cosmetic-induced subjective sensory skin discomfort (burning, stinging, itching etc.) occurred more commonly in the sensitive skin cohort (53%) than in those who regarded themselves as non-sensitive (17%). An atopic diathesis in women did not appear to be a predictive factor for sensitive skin, the incidence of self-perceived sensitive skin being equivalent for atopics (49%) and non-atopics (51%). Furthermore, some 34% of atopic women described themselves as being non-sensitive. Nevertheless, the incidence of atopy was higher among the women in the sensitive skin group (49%) than among those in the non-sensitive group (27%). Dry skin and a predilection for blushing/flushing were associated factors for sensitive skin. Conclusions Our survey indicates that sensitive facial skin is a common problem for women and men in the U.K. and points to the need for the development of personal products designed for this skin phenotype. [source] The skin as a mirror of the ageing process in the human organism , results of the ageing research in the German National Genome Research Network 2EXPERIMENTAL DERMATOLOGY, Issue 8 2006CH. C. Zouboulis Intrinsic human skin ageing is influenced by the individual genetic predisposition and reflects degradation processes of the body. Hormones are decisively involved in intrinsic ageing with reduced secretion of pituitary, adrenal glands, and gonads, which leads to characteristic body and skin phenotypes. A number of advances were recently made in understanding skin ageing mechanisms and major molecular changes, especiallly of the extracellular matrix, were identified. Gene expression patterns compatible with mitotic misregulation and alterations in intracellular transport and metabolism were identified in fibroblasts of ageing humans and humans with progeria. Age-associated changes of extracellular matrix of the skin correlate well with changes been detected in the extracellular matrix of other organs of the human body. Within the National Genome Research Network 2 (NGFN-2) in Germany, the explorative project ,Genetic etiology of human longevity' targets the identification of age-related molecular pathways. For this purpose, skin models of ageing are used. Expression profiling employing cDNA microarrays from known and novel genes and RT-PCR are employed for gene detection and confirmation. Among the potential candidate genes several interesting target genes have been identified. The evaluation of ageing-associated genes in skin models will facilitate the understanding of global molecular ageing mechanisms in the future. [source] Skin cancer trends in northern JordanINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 4 2006Abdel K. Omari MD Background, The Jordan Cancer Registry was established in 1996, since which time all cases of cancer have been reported and registered. We have used this registry to perform the first analysis of skin cancer in northern Jordan and to compare our findings with those of published reports from other regions. Methods, All histopathologically proven cases of skin cancer, reported during the years 1997 through 2001, were reviewed. Information regarding tumor type, age, gender, and anatomical location was collected. Results, A total of 272 cases of malignant skin tumors were diagnosed between the years 1997 and 2001. Basal cell carcinoma (BCC) was the commonest type, representing 52.9% of all skin cancers. Females were more frequently affected than males, with age-adjusted incidence rates of 23.3 and 19.7 per 100,000 of population, respectively. Squamous cell carcinoma (SCC) comprised 26.4% of the total, its age-adjusted incidence rate per 100,000 of population being 14.2 for males and 6.18 for females. the incidence rate increased in males and decreased in females during the study period. The incidence of both BCC and SCC increased with age. The head and neck region was the commonest site affected by both types of cancer. Malignant melanoma (MM) comprised 11.39% of all skin cancer cases, with a female to male ratio of 1.2 : 1. The median age at onset for female patients was 49 years while that for males was 70 years, and the commonest site affected was the lower limbs, followed by the trunk. Conclusions, In Jordan, sun-related skin cancers have relatively low incidences and a rather stable pattern, compared with other areas with similar climate and skin phenotypes. [source] Distinct roles of individual Smads in skin carcinogenesisMOLECULAR CARCINOGENESIS, Issue 8 2007Sophia Bornstein Abstract Transforming growth factor , (TGF,) signaling has both tumor suppression and promotion roles. Smads are transcription factors that primarily mediate intracellular signaling for the TGF, superfamily. Loss of Smad2 and Smad4, but not Smad3 is common in human cancers. Given the complex nature of TGF, signaling, dissection of the distinct role of each Smad in mediating the multiple functions of TGF, signaling is warranted. To further analyze Smad deregulation during carcinogenesis, Smad2, Smad3, Smad4, and Smad7 were genetically modified in murine epidermis, and each alteration resulted in distinct skin phenotypes. Based on data from human cancer samples and from experimental models, Smad2 and Smad4 mainly function as tumor suppressors in skin carcinogenesis in vivo, whereas Smad3 and Smad7 may have dual roles in cancer. This review intends to summarize recent advances in the elucidation of the roles of Smad2, Smad3, Smad4, and Smad7 in skin carcinogenesis. © 2007 Wiley-Liss, Inc. [source] The molecular genetics of the genodermatoses: progress to date and future directionsBRITISH JOURNAL OF DERMATOLOGY, Issue 1 2003A.D. Irvine Summary The Human Genome Mapping Project and allied rapid advances in genetic technology over the past decade have facilitated accurate association of allelic variations in several genes with specific skin phenotypes. Currently the genetic bases of the majority of the more common genodermatoses have been elucidated. In scientific terms this work has been extraordinarily successful and has yielded many new biological insights. These advances, although exciting, have yet to be translated into direct benefit for patients with these diseases. Genetic counselling has been greatly aided by gene identification, by the better understanding of genotype,phenotype correlation and by the disclosure of unexpected genetic mechanisms in some families. Knowledge of the molecular basis of these disorders has also been vital in enabling DNA-based prenatal diagnosis in several conditions and DNA-based preimplantation diagnosis has been used in a selected few. While this successful period of gene mapping is now nearing completion, progress towards the next goal, that of developing therapeutic strategies based on the knowledge of these underlying genetic mechanisms, has proven frustratingly slow. Despite the ready access to the skin compared with solid internal organs, the challenges of cutaneous gene therapy are legion and many technical issues need to be surmounted to enable gene replacement or modification of gene expression to have a useful role in these disorders. In this article we make a comprehensive review of progress to date in gene identification, genotype,phenotype correlation, prenatal diagnosis and cutaneous gene therapy, and we examine future directions for research in this field. [source] | ||||||||||