Congenital adrenal hyperplasia

Congenital adrenal hyperplasia consists of a heterogenous group of inherited disorders due to enzymatic defects in the biosynthetic pathway of cortisol and/or aldosterone. This results in glucocorticoid deficiency, mineralocorticoid deficiency, and androgen excess. 95% of CAH cases are due to 21-hydroxylase deficiency. Clinical forms range from the severe, classical CAH associated with complete loss of enzyme function, to milder, non-classical forms (NCAH). Androgen excess affects the pilosebaceous unit, causing cutaneous manifestations such as acne, androgenetic alopecia and hirsutism. Clinical differential diagnosis between NCAH and polycystic ovary syndrome may be difficult. In this review, the evaluation of patients with suspected CAH, the clinical presentation of CAH forms, with emphasis on the cutaneous manifestations of the disease, and available treatment options, will be discussed

The prevalence of skin diseases in Greece, impact on quality of life and stigmatization:A population-based survey study

Background: There is no population-based evidence on the prevalence and impact of skin diseases in Greece. Objectives: To describe the prevalence of 12 main skin diseases and their impact on quality of life (QoL) and feelings of stigmatization in the Greek population. Methods: A population-based survey in an adult Greek representative sample was carried out as part of the multinational ‘EADV burden of skin diseases study’. Quality of life (QOL) was measured using the Dermatology Life Quality Index (DLQI) and the Visual Analogue Scale (VAS) from the EuroQol-5D (EQ. 5D) questionnaires. Results: In 1010 participants, 47.8% (n = 483) declared at least one skin disease or condition or skin-related unpleasant sensation in the last 12 months. Fungal skin infection was reported with the higher prevalence (7.5%), followed by alopecia (5.7%), atopic dermatitis (5%), acne (3.6%), sexually transmitted diseases (2.7%), psoriasis (2.2%) chronic urticaria (1.5%), rosacea (1.3%), nonmelanoma skin cancer (1.5%), vitiligo (0.6%), cutaneous melanoma (0.6%) and hidradenitis suppurativa (0.3%). Mean VAS-EQ. 5D and DLQI scores were 77.8 and 2.2, respectively. Among those reporting at least one skin problem, 68.1% reported an impact of the skin condition on their personal life and 51% reported an impact on time to take care of themselves. Regarding the impact on work-life decisions, 22.2% reoriented their professional activity, 13% were refused a professional offer, 22.2% did not get the job they hoped to and 16.7% chose their work with their skin problem in mind. Regarding feelings of stigmatization, 12% felt left out/rejected by others, 6.6% were refused access to leisure facilities and 9.8% reported the impression to be looked at with disgust. Conclusions: Our population-based study provides new information on the prevalence of skin diseases in the Southern European country of Greece and highlights the impact of prevalent skin disease on life-altering decisions and stigmatization.</p

The prevalence of skin diseases in Greece, impact on quality of life and stigmatization:A population-based survey study

Background: There is no population-based evidence on the prevalence and impact of skin diseases in Greece. Objectives: To describe the prevalence of 12 main skin diseases and their impact on quality of life (QoL) and feelings of stigmatization in the Greek population. Methods: A population-based survey in an adult Greek representative sample was carried out as part of the multinational ‘EADV burden of skin diseases study’. Quality of life (QOL) was measured using the Dermatology Life Quality Index (DLQI) and the Visual Analogue Scale (VAS) from the EuroQol-5D (EQ. 5D) questionnaires. Results: In 1010 participants, 47.8% (n = 483) declared at least one skin disease or condition or skin-related unpleasant sensation in the last 12 months. Fungal skin infection was reported with the higher prevalence (7.5%), followed by alopecia (5.7%), atopic dermatitis (5%), acne (3.6%), sexually transmitted diseases (2.7%), psoriasis (2.2%) chronic urticaria (1.5%), rosacea (1.3%), nonmelanoma skin cancer (1.5%), vitiligo (0.6%), cutaneous melanoma (0.6%) and hidradenitis suppurativa (0.3%). Mean VAS-EQ. 5D and DLQI scores were 77.8 and 2.2, respectively. Among those reporting at least one skin problem, 68.1% reported an impact of the skin condition on their personal life and 51% reported an impact on time to take care of themselves. Regarding the impact on work-life decisions, 22.2% reoriented their professional activity, 13% were refused a professional offer, 22.2% did not get the job they hoped to and 16.7% chose their work with their skin problem in mind. Regarding feelings of stigmatization, 12% felt left out/rejected by others, 6.6% were refused access to leisure facilities and 9.8% reported the impression to be looked at with disgust. Conclusions: Our population-based study provides new information on the prevalence of skin diseases in the Southern European country of Greece and highlights the impact of prevalent skin disease on life-altering decisions and stigmatization.</p

Host phenotype characteristics and MC1R in relation to early-onset basal cell carcinoma.

Basal cell carcinoma (BCC) incidence is increasing, particularly among adults under the age of 40 years. Pigment-related characteristics are associated with BCC in older populations, but epidemiologic studies among younger individuals and analyses of phenotype-genotype interactions are limited. We examined self-reported phenotypes and melanocortin 1 receptor gene (MC1R) variants in relation to early-onset BCC. BCC cases (n=377) and controls with benign skin conditions (n=390) under the age of 40 years were identified through Yale's Dermatopathology database. Factors most strongly associated with early-onset BCC were skin reaction to first summer sun for 1 hour (severe sunburn vs. tan odds ratio (OR)=12.27, 95% confidence interval (CI)=4.08-36.94) and skin color (very fair vs. olive OR=11.06, 95% CI=5.90-20.74). Individuals with two or more MC1R non-synonymous variants were 3.59 times (95% CI=2.37-5.43) more likely to have BCC than those without non-synonymous variants. All host characteristics and MC1R were more strongly associated with multiple BCC case status (37% of cases) than a single BCC case status. MC1R, number of moles, skin reaction to first summer sun for 1 hour, and hair and skin color were independently associated with BCC. BCC risk conferred by MC1R tended to be stronger among those with darker pigment phenotypes, traditionally considered to be at low risk of skin cancer

Evaluation of the effectiveness of Eladi Keram for the treatment of acne vulgaris: a randomised controlled pilot study

Introduction: Acne is a multifactorial and common skin disease which can significantly affect the quality of life of sufferers. In this study, a topical herbal preparation traditionally used in Ayurvedic medicine was evaluated as a treatment for individuals with acne on their shoulders and backs. Methods: Study participants were randomly assigned either to treatment (Eladi Keram) or vehicle control (coconut oil) groups under double blind conditions and instructed on its daily home application. Standardised lesion counting and acne grading were conducted in accordance with US Food and Drug Administration guidelines and with reference to the Leeds Acne Grading Technique. Participants were assessed for severity of the condition at commencement and on day 28 of treatment. Results: The treatment group showed improvements of 42% (p < 0.005) on the Investigators Global Assessment scale, a 60% (p < 0.05) reduction in inflammatory lesions, a 59% (p < 0.05) reduction in non-inflammatory lesions, and a 59% (p < 0.005) reduction in combined lesion count. The control group showed no statistically significant changes for these criteria. Conclusion: This study is the first reported clinical evaluation of Eladi Keram as a treatment for acne and findings suggest that it could be effective in reducing inflammatory and non-inflammatory lesions, warranting further investigation by means of a larger scale clinical trial

YY1 Regulates Melanocyte Development and Function by Cooperating with MITF

Studies of coat color mutants have greatly contributed to the discovery of genes that regulate melanocyte development and function. Here, we generated Yy1 conditional knockout mice in the melanocyte-lineage and observed profound melanocyte deficiency and premature gray hair, similar to the loss of melanocytes in human piebaldism and Waardenburg syndrome. Although YY1 is a ubiquitous transcription factor, YY1 interacts with M-MITF, the Waardenburg Syndrome IIA gene and a master transcriptional regulator of melanocytes. YY1 cooperates with M-MITF in regulating the expression of piebaldism gene KIT and multiple additional pigmentation genes. Moreover, ChIP–seq identified genome-wide YY1 targets in the melanocyte lineage. These studies mechanistically link genes implicated in human conditions of melanocyte deficiency and reveal how a ubiquitous factor (YY1) gains lineage-specific functions by co-regulating gene expression with a lineage-restricted factor (M-MITF)—a general mechanism which may confer tissue-specific gene expression in multiple lineages

Lifetime history of indoor tanning in young people: a retrospective assessment of initiation, persistence, and correlates

<p>Abstract</p> <p>Background</p> <p>Despite educational and public health campaigns to convey the risks of indoor tanning, many individuals around the world continue to engage in this behavior. Few descriptive studies of indoor tanning have collected information pertaining to the lifetime history of indoor tanning, thereby limiting our ability to understand indoor tanning patterns and potentially target interventions for individuals who not only initiate, but continue to persistently engage in indoor tanning.</p> <p>Methods</p> <p>In-person interviews elicited detailed retrospective information on lifetime history of indoor tanning among white individuals (n = 401) under age 40 seen by a dermatologist for a minor benign skin condition. These individuals were controls in a case-control study of early-onset basal cell carcinoma. Outcomes of interest included ever indoor tanning in both males and females, as well as persistent indoor tanning in females - defined as females over age 31 who tanned indoors at least once in the last three or all four of four specified age periods (ages 11-15, 16-20, 21-30 and 31 or older). Multivariate logistic regression was used to identify sociodemographic and lifestyle correlates of ever and persistent indoor tanning in females.</p> <p>Results</p> <p>Approximately three-quarters (73.3%) of females and 38.3% of males ever tanned indoors, with a median age of initiation of 17.0 and 21.5, respectively. Among indoor tanners, 39.3% of females and 21.7% of males reported being burned while indoor tanning. Female ever indoor tanners were younger, had darker color eyes, and sunbathed more frequently than females who never tanned indoors. Using unique lifetime exposure data, 24.7% of female indoor tanners 31 and older persistently tanned indoors starting as teenagers. Female persistent indoor tanners drank significantly more alcohol, were less educated, had skin that tanned with prolonged sun exposure, and sunbathed outdoors more frequently than non-persistent tanners.</p> <p>Conclusions</p> <p>Indoor tanning was strikingly common in this population, especially among females. Persistent indoor tanners had other high-risk behaviors (alcohol, sunbathing), suggesting that multi-faceted behavioral interventions aimed at health promotion/disease prevention may be needed in this population.</p

Comparative Proteomic Analysis of Lung Lamellar Bodies and Lysosome-Related Organelles

Pulmonary surfactant is a complex mixture of lipids and proteins that is essential for postnatal function. Surfactant is synthesized in alveolar type II cells and stored as multi-bilayer membranes in a specialized secretory lysosome-related organelle (LRO), known as the lamellar body (LB), prior to secretion into the alveolar airspaces. Few LB proteins have been identified and the mechanisms regulating formation and trafficking of this organelle are poorly understood. Lamellar bodies were isolated from rat lungs, separated into limiting membrane and core populations, fractionated by SDS-PAGE and proteins identified by nanoLC-tandem mass spectrometry. In total 562 proteins were identified, significantly extending a previous study that identified 44 proteins in rat lung LB. The lung LB proteome reflects the dynamic interaction of this organelle with the biosynthetic, secretory and endocytic pathways of the type II epithelial cell. Comparison with other LRO proteomes indicated that 60% of LB proteins were detected in one or more of 8 other proteomes, confirming classification of the LB as a LRO. Remarkably the LB shared 37.8% of its proteins with the melanosome but only 9.9% with lamellar bodies from the skin. Of the 229 proteins not detected in other LRO proteomes, a subset of 34 proteins was enriched in lung relative to other tissues. Proteins with lipid-related functions comprised a significant proportion of the LB unique subset, consistent with the major function of this organelle in the organization, storage and secretion of surfactant lipid. The lung LB proteome will facilitate identification of molecular pathways involved in LB biogenesis, surfactant homeostasis and disease pathogenesis

Control of Propionibacterium acnes by natural antimicrobial substances: Role of the bacteriocin AS-48 and lysozyme

We report the high susceptibility of several clinical isolates of Propionibacterium acnes from different sources (skin, bone, wound exudates, abscess or blood contamination) to the head-to-tail cyclized bacteriocin AS-48. This peptide is a feasible candidate for further pharmacological development against this bacterium, due to its physicochemical and biological characteristics, even when it is growing in a biofilm. Thus, the treatment of pre-formed biofilms with AS-48 resulted in a dose- and time-dependent disruption of the biofilm architecture beside the decrease of bacterial viability. Furthermore, we demonstrated the potential of lysozyme to bolster the inhibitory activity of AS-48 against P. acnes, rendering high reductions in the MIC values, even in matrix-growing cultures, according to the results obtained using a range of microscopy and bioassay techniques. The improvement of the activity of AS-48 through its co-formulation with lysozyme may be considered an alternative in the control of P. acnes, especially after proving the absence of cytotoxicity demonstrated by these natural compounds on relevant human skin cell lines. In summary, this study supports that compositions comprising the bacteriocin AS-48 plus lysozyme must be considered as promising candidates for topical applications with medical and pharmaceutical purposes against dermatological diseases such as acne vulgaris.This research was funded by a grant from the Spanish Ministry of Economy and Competitiveness (SAF2013-48971-C2-1-R that included funds from European Regional Development, ERDF), and the Research Group General (BIO160, UGR)