Caveolin-1 as a possible target in the treatment for acne.

Expression of caveolin-1 (Cav-1) is an important pathophysiological factor in acne. Cav-1 strongly interacts with such well-recognized etiopathogenic factors such as hyperseborrhea, follicular hyperkeratinization and pathogenicity of Cutibacterium acnes. Cav-1 is a strong negative regulator of transforming growth factor beta (TGF-ß) expression. It acts as a critical determinant of autophagy, which is significantly induced in acne lesions through C. acnes and by absorption of fatty acids. Cav-1 also demonstrates different correlations with the development of innate immunity. We propose that normalization of Cav-1 expression can serve as a target in anti-acne therapy.

Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: a multicenter study from the Pediatric Rheumatology Arab Group (PRAG).

To define the spectrum and phenotypic characteristics of systemic autoinflammatory diseases (SAIDs) other than familial Mediterranean fever (FMF) in Arab children and to delineate diagnostic evaluation. Data retrospectively collected on patients with clinical and/or genetically proven SAIDs other than FMF at 10 tertiary Arab pediatric rheumatology clinics from 1990 to 2018. The collected data comprised the clinical findings and diagnostic evaluation including genetic testing, the provided treatment and the accrual damage related to SAIDs. A total of 144 patients (93 female) with a median age at onset of 2.5 (range 0.1-12) years were enrolled. The initial diagnosis was inaccurate in 49.3%. Consanguinity rate among parents was 74.6%. The median time-to-diagnosis for all SAIDs was 2.5 (range 0.1-10) years. There were 104 patients (72.2%) with a confirmed diagnosis and 40 patients with suspected SAIDs. Seventy-two had monogenic and 66 patients with multifactorial SAIDs while six patients had undifferentiated SAIDs. The most frequent monogenic SAIDs were LACC1 mediated monogenic disorders (n = 23) followed by CAPS (12), TRAPS (12), HIDS (12), and Majeed's syndrome (6). The most frequent multifactorial SAIDs was CRMO (34), followed by PFAPA (18), and early onset sarcoidosis (EOS) (14). Genetic analysis was performed in 69 patients; 50 patients had genetically confirmed disease. Corticosteroid used for 93 patients while biologic agents for 96 patients. Overall, growth failure was the most frequent accrual damage (36%), followed by cognitive impairment (13%). There were three deaths because of infection. This study shows a heterogenous spectrum of SAIDs with a high number of genetically confirmed monogenic diseases; notably, LACC1 associated diseases. Hopefully, this work will be the first step for a prospective registry for SAIDs in Arab countries.

The Effect of Isotretinoin on Oocyte Maturation in Adolescent Female Rats.

OBJECTIVE: Isotretinoin is used in acne vulgaris treatment for more than 20 years. Isotretinoin has serious side effects on many organs, but there are no comprehensive studies investigating its possible toxic effects on reproductive organs. Thus, we aimed to investigate the possible toxic effects of isotretinoin administration on oocyte maturation in female rat gonads in this study. METHODS: Thirty-two adolescent female rats (Wistar Albino, 220 ± 35 g) were randomly divided into 4 groups with 8 subjects in each group: group 1, group 2, group 3, and group 4. Different doses of isotretinoin which was dissolved in sesame oil were given to rats by gavage: 7.5 mg/kg/day in group 3 and 15 mg/kg/day in group 4. The rats in group 2 received sesame oil by gavage. To create gavage stress, only gavage was administered to the rats in group 1. The gavages for each group continued once a day and at a certain time for 30 days. To determine the effect of isotretinoin on oocyte maturation, the periodic acid-Schiff reaction was performed for histochemical and histomorphometric evaluation of the zona pellucida, and staining of growth differentiation factor-9 (GDF-9) and bone morphogenetic protein-15 (BMP-15) was performed for immunohistochemical analysis. RESULTS: When the thickness of the zona pellucida was evaluated, a statistically significant difference was found between group 1 and experimental groups (group 3 and group 4). In the experimental groups, it was determined that the thickness of the zona pellucida was decreased depending on the increase in dose. GDF-9 and BMP-15 expressions in oocytes of primordial and primary follicles decreased significantly in the experimental groups compared to group 1 and group 2. However, the expression of GDF-9 and BMP-15 in oocytes of secondary follicles was not significantly different between group 1 and group 2 and the experimental groups. CONCLUSIONS: In our study, we showed toxic effect of isotretinoin on oocyte maturation in female rats.

Androgens in women: Androgen-mediated skin disease and patient evaluation.

Androgens are produced throughout the body in steroid-producing organs, such as the adrenal glands and ovaries, and in other tissues, like the skin. Several androgens are found normally in women, including dehydroepiandrosterone, dehydroepiandrosterone-sulfate, testosterone, dihydrotestosterone, and androstenedione. These androgens are essential in the development of several common cutaneous conditions in women, including acne, hirsutism, and female pattern hair loss (FPHL)-androgen-mediated cutaneous disorders (AMCDs). However, the role of androgens in the pathophysiology of these diseases is complicated and incompletely understood. In the first article in this Continuing Medical Education series, we discuss the role of the skin in androgen production and the impact of androgens on the skin in women. Specifically, we review the necessary but insufficient role that androgens play in the development of acne, hirsutism, and FPHL in women. Dermatologists face the challenge of differentiating physiologic from pathologic presentations of AMCDs in women. There are currently no dermatology guidelines outlining the indications for endocrinologic evaluation in women presenting with acne, hirsutism, or FPHL. We review the available evidence regarding when to consider an endocrinologic workup in women presenting with AMCDs, including the appropriate type and timing of testing.

Androgens in women: Hormone-modulating therapies for skin disease.

Androgen-mediated cutaneous disorders (AMCDs) in women, including acne, hirsutism, and female pattern hair loss, can be treated with hormone-modulating therapies. In the second article in this Continuing Medical Education series, we discuss the hormone-modulating therapies available to dermatologists for the treatment of AMCDs, including combined oral contraceptives, spironolactone, finasteride, dutasteride, and flutamide. Available hormone-modulating treatments used for each AMCDs are reviewed, along with mechanisms of androgen modulation, safety profile, contraindications, monitoring parameters, and evidence of efficacy. Medications discussed include those that are approved by the US Food and Drug Administration for certain AMCDs and some that are used off-label. Despite the ubiquity of hormone-modulating therapies used for AMCDs, this review highlights the need for more rigorous studies to evaluate these therapies for acne, hirsutism, and female pattern hair loss.

How to Increase Adherence and Compliance in Acne Treatment? A Combined Strategy of SMS and Visual Instruction Leaflet.

INTRODUCTION: Acne is a common skin disease with important psychosocial impact. Often inadequate compliance affects the efficacy of the therapy. Because of emerging use of mobile and electronic health technology, the recent literature evaluated the helpfulness of the tools in medication adherence. The first goal of our study was to evaluate the adherence to therapy with topical adapalene 0.3%/benzoyl peroxide (A-BPO) 2.5% in different groups of patients who received explicative information supported by different strategies. The second goal was to evaluate the patient's quality of life and skin parameters. MATERIALS AND METHODS: We enrolled 126 subjects with mild to severe acne vulgaris. They were randomized into 3 groups of 42 patients each and applied daily topical A-BPO (0.3%, 2.5%) for 12 weeks. The first group (G1) was trained on the gel application by an explicative leaflet. The second group (G2) received the same instructions as group 1 and a daily SMS to remind them of the application of the product. The third group (G3) only received standard instructions. Evaluations were performed at the beginning of treatment (T0) and after 12 weeks (T1): assessment of acne severity using the Investigator's Global Assessment (IGA) Scale for Acne Severity, quality of life by the Cardiff Acne Disability Index (CADI) and the Patient-Doctor Relationship Depth-of-Relationship Scale (PDRDS), skin pH, grade of hydration and adherence to treatment with a 7-day recall calendar were also measured. RESULTS: After 12 weeks of therapy, we observed a reduction in IGA in all groups confirming the clinical efficacy of the product. In the multiple comparison analysis of IGA score reduction, a significant difference was found in G2 versus G1 and G2 versus G3, while the G1 versus G3 comparison was not statistically significant. However, the leaflet group (G1) showed better results compared to the no-leaflet group (G3). Supporting these data, we observed that adherence days correlated positively with the improvement of the single parameters. Moreover, we observed that SMS and leaflet groups had a greater improvement in quality of life evaluated by CADI and PDRDS scores. CONCLUSIONS: According to our data, this experimental setup based on text message service and leaflet service is inexpensive and easy to use. Physicians could consider using these items in their practice to enhance patient adherence and satisfaction as well as treatment outcome.

Staphylococcus epidermidis: A Potential New Player in the Physiopathology of Acne?

BACKGROUND: Cutibacterium acnes has been identified as one of the main triggers of acne. However, increasing knowledge of the human skin microbiome raises questions about the role of other skin commensals, such as Staphylococcus epidermidis, in the physiopathology of this skin disease. SUMMARY: This review provides an overview of current knowledge of the potential role of S. epidermidis in the physiopathology of acne. Recent research indicates that acne might be the result of an unbalanced equilibrium between C. acnes and S. epidermidis,according to dedicated interactions. Current treatments act on C. acnesonly. Other treatment options may be considered, such as probiotics derived from S. epidermidis to restore the naturally balanced microbiota or through targeting the regulation of the host's AMP mediators. Key Messages: Research seems to confirm the beneficial role of S. epidermidis in acne by limiting C. acnes over-colonisation and inflammation.

Acne relapses: impact on quality of life and productivity.

BACKGROUND: Acne is a common skin disease that mostly affects teenagers, with a negative impact on quality of life. Recently, adult acne and acne relapses have increased in frequency, for yet unknown reasons. OBJECTIVE: This non-interventional, real-life study sought to investigate the rate of acne relapses and their impact on quality of life and productivity (loss/absenteeism) among teenagers and adults. METHODS: An online self-administered questionnaire was proposed to ≥15-year-olds suffering from acne who spontaneously consulted their dermatologist. To ensure homogeneous assessment of acne severity, the global acne severity scale was applied. Quality of life was assessed via Cardiff Acne Disability Index (CADI), SF12-physical score and SF12-mental score questionnaires. Productivity loss or absenteeism in middle/high school was estimated based on the number of days off work or school over the last 30 days. RESULTS: Overall, 1048 questionnaires were considered assessable, with 448 (43%) mild acne, 434 (41%) moderate acne and 166 (16%) severe acne. Overall, 755 (72%) participants were in middle/high school, 267 (25%) employed and 26 (3%) with no professional activity. Considering the population by age groups, 68% (n = 716) were ≤20-year-olds and 32% (n = 332) >20-year-olds, with a mean age of 20.26 (SD: 7.43) years. Acne relapses were reported by 44% of respondents. Analyses revealed that poorer quality of life scores was observed in acne relapsers vs. non-relapsers, with a significant difference for CADI scores (P < 0.01) in >20-year-olds. Acne-related absenteeism was recorded in 5.7% of cases. On multivariate analyses, after adjusting for other variables, acne relapse was proven a significant determinant of absenteeism/productivity loss. CONCLUSION: This real-life study first demonstrated acne relapse rates of 44%, which appeared to be generation-dependent, affecting 39.9% of ≤20-year-olds vs. 53.3% of >20-year-olds. Acne relapses were significantly associated with impaired quality of life and productivity loss/absenteeism.

Clinical Insights About the Role of pH in Acne

Acne vulgaris is the most common dermatological disorder globally.1,2 Psychological and emotional distress due to acne, including poor self-esteem, social anxiety, depression, and suicidal ideation have been reported in various studies.3,4, Acne is a complex multifactorial disease with its pathophysiology incompletely elucidated.

Comparison of quality of life and illness perception among patients with acne, eczema, and psoriasis.

Dermatologic diseases have a similar influence on quality of life (QoL) and disability as other chronic medical conditions. Although QoL has been studied in relation to acne, eczema, and psoriasis, there is little information on how patients conceptualize their diseases - the illness experience. More information about illness perception (IP) and the impact of these perceptions on QoL, will help clinicians identify and address patients' conceptions, with the potential to positively impact patients' wellbeing. We sought to examine the effect of IP on QoL and make comparisons across acne, psoriasis, and eczema among a diverse population. A cross-sectional survey-based study was completed anonymously by patients presenting to an urban university hospital-based dermatology clinic. In our final model, we showed that IP was independently associated with overall QoL. A secondary finding showed that overall QoL was significantly worse for nonwhite patients compared to white patients. Our results are based on patient survey data, without correlation with objective clinical information. Taken together, our data demonstrate a direct relationship between IP and QoL in three common dermatologic conditions in a clinic-based setting and suggest that this relationship may be influenced by group differences, such as race/ethnicity.

Analysis of gene expression profiles of multiple skin diseases identifies a conserved signature of disrupted homeostasis.

Triggers of skin disease pathogenesis vary, but events associated with the elicitation of a lesion share many features in common. Our objective was to examine gene expression patterns in skin disease to develop a molecular signature of disruption of cutaneous homeostasis. Gene expression data from common inflammatory skin diseases (eg psoriasis, atopic dermatitis, seborrhoeic dermatitis and acne) and a novel statistical algorithm were used to define a unifying molecular signature referred to as the "unhealthy skin signature" (USS). Using a pattern-matching algorithm, analysis of public data repositories revealed that the USS is found in diverse epithelial diseases. Studies of milder disruptions of epidermal homeostasis have also shown that these conditions converge, to varying degrees, on the USS and that the degree of convergence is related directly to the severity of homeostatic disruption. The USS contains genes that had no prior published association with skin, but that play important roles in many different disease processes, supporting the importance of the USS to homeostasis. Finally, we show through pattern matching that the USS can be used to discover new potential dermatologic therapeutics. The USS provides a new means to further interrogate epithelial homeostasis and potentially develop novel therapeutics with efficacy across a spectrum of skin conditions.

No evidence for follicular keratinocyte hyperproliferation in acne lesions as compared to autologous healthy hair follicles.

Abnormal hyperkeratinization in sebaceous hair follicles has long been believed to play an important role in acne pathogenesis. Several early reports purported to provide histological evidence for hyperproliferation of keratinocytes in acne lesions by showing a higher expression of the Ki67 as well as certain keratins. The evidence is, however, not robust, and a number of methodological and technical limitations can be identified in these studies. In this study, we looked at the expression of proliferation, mitosis and apoptosis markers directly at acne skin lesions in 66 patients with acne vulgaris. Ki67 was assessed using immunohistochemistry and α-tubulin, phospho-histone H3 and cleaved-PARP with immunofluorescence microscopy. Allogenic unaffected hair follicles from the same acne patients were used as an internal control. In both acne and control hair follicles, the α-tubulin staining was universal, approaching 100% cells and showed no signs of changed assembly. Expression of cleaved-PARP-the apoptosis marker-was a rare event. Cell proliferation rate measured by the expression of Ki67 and phospho-histone H3 was virtually identical between acne and the two control groups. Our findings show the absence of increased keratinocyte proliferation in acne vulgaris. Alternative mechanisms are likely responsible for infundibular hyperkeratinization in acne pathogenesis.

Male Testosterone Does Not Adapt to the Partner's Menstrual Cycle.

BACKGROUND: It has not yet been established whether men in heterosexual relationships adapt their hormone levels to their female partner's menstrual cycle to allocate reproductive resources to the period when the female is actually fertile. AIM: This prospective observational study tested the hypothesis that some males have peaks in testosterone or acne (a possible biomarker for androgen activity) near their partners' ovulation, whereas other males display the opposite pattern. METHODS: 48 couples supplied menstrual cycle data, male salivary samples, and a protocol of daily activities for 120 days. Daily saliva samples were analyzed for testosterone concentrations by enzyme-linked immunosorbent assay. The main hypothesis was tested by analyzing whether each individual male's testosterone/acne response to ovulation (either an increase or a decrease in comparison to the individual's average levels) was stable over time. To do this, we analyzed the Spearman correlation between individually normalized periovulatory testosterone and acne during the first half of the study versus the second half of the study. OUTCOMES: Correlation between each male individual's periovulatory testosterone and acne patterns during the first half of the study versus the second half of the study. RESULTS: No predictability in the male individuals' testosterone (Spearman's rho = -0.018, P = .905) or acne (Spearman's rho = -0.036, P = .862) levels during ovulation was found. CLINICAL TRANSLATION: The study being "negative," there is no obvious translational potential in the results. STRENGTHS AND LIMITATIONS: The main strength of this study lies in the excellent compliance of the study participants and the large number of sampling timepoints over several menstrual cycles, thereby allowing each male individual to be his own control subject. A limitation is that samples were only obtained in the morning; however, including later timepoints would have introduced a number of confounders and would also have hampered the study's feasibility. CONCLUSIONS: The current results strongly indicate that male morning testosterone levels neither increase nor decrease in response to the partner's ovulation. This discordance to previous laboratory studies could indicate either that (i) the phenomenon of hormonal adaptation of men to women does not exist and earlier experimental studies should be questioned, (ii) that the phenomenon is short-lived/acute and wanes if the exposure is sustained, or (iii) that the male testosterone response may be directed toward other women than the partner. Ström JO, Ingberg E, Slezak JK, et al. Male Testosterone Does Not Adapt to the Partner's Menstrual Cycle. J Sex Med 2018;15:1103-1110.

Current Concepts in Acne Pathogenesis: Pathways to Inflammation.

Acne is a disease of pilosebaceous inflammation. Pivotal in pathogenesis are the roles of hormones (insulin, insulin-like growth factor-1, androgens), Propionibacterium acnes, lipogenesis, and a proinflammatory lipid profile. Innate immune responses are induced through interaction with toll-like receptors and inflammasome activation initially and subsequently through adaptive immune activation. These insights into pathogenic inflammatory pathways can translate into novel therapeutic approaches for acne. Semin Cutan Med Surg 37(supp3):S60-S62 ©2018 published by Frontline Medical Communication.

Female type of adult acne: Physiological and psychological considerations and management.

Today we see more cases of acne after adolescence, with a greater prevalence in females than males. Adult female acne has a distinct clinical presentation and is associated with a number of specific pathophysiological features and gender-specific triggers. The psychological impact of acne is generally significant and largely underestimated; stress during professional and private life, anxiety and sleep quality, in particular, have a reciprocal relationship with disease susceptibility and severity. It is essential to compare with males. Acne in females often causes greater distress in adults than in adolescents. The impact of disease may therefore be greater for female patients, triggering higher levels of psychosocial anguish and increasing the likelihood of sequelae such as skin picking and the risks of cutaneous superinfection, scarring and PIH and acne recurrence. The management of adult female acne should encompass not just medical treatment of the symptoms, but also a comprehensive, holistic approach to the patient as a whole, her individual lifestyle factors and the impact of acne on her quality of life. Future management of this disease should aim to improve patient adherence to therapy and to develop validated outcomes of treatment regarding overall skin appearance and quality of life.

Indicators of phagocytosis in women with acne during comprehensive treatment that included immunotherapy and probiotics.

OBJECTIVE: Introduction: Acne is one of the most common dermatological diseases. It may have a chronic course, leaving permanent marks, and in last years has been tending to have more and more severe clinical course with widespread skin lesions. According to recent studies, the development of acne is due to the combined effect of endogenous and exogenous factors, among which endocrine diseases (quite a significant aspect), disorders of metabolic processes, reduced systemic immunity and phagocytic ability of mononuclear phagocytes and granulocytes at various stages of phagocytosis of pyogenic cocci, which contributes to more severe clinical course, and frequent relapse of this diseases. It was also proved that the intestinal microbiota plays an important role in the formation of homeostasis and immune response. The aim of the studyis to determine the evolution of phagocytosis indices in patients with acne under differentcomprehensive treatments, using oral antibiotics, immunotherapy, probiotics and low-dose birth control pills. PATIENTS AND METHODS: Materials and methods: We observed 93 women with acne aged from 18 to 25 years old. In 19 (20,43 %) patients mild acne was diagnosed, in 41 (44.09%) - moderate acne, in 33 (35.48 %) persons - severe acne, 54 (58,06%) persons suffered from acne up to 1 year, 39 (41,93%) - from 1 to 3 years. To assess the state of phagocytosis in patients with acne vulgaris, we determined phagocytic activity (PA) and phagocytic index (PI) of polymorphonuclear leukocytes, nitro blue tetrazolium recovery test (NBT test spontaneous) and NBT-test pyrogenal stimulated by the recognized methods. RESULTS: Results: Analysis of the studied parameters of phagocytosis at the end of treatment showed a significant increase in patients of the core group who were administered a comprehensive treatment which included oral antibiotic, probiotic, low-dose birth control pills and autohemotherapy, as compared with the patients of other groups under study. CONCLUSION: Conclusions: Using combined therapy for women with acne occurring against the backdrop of a sluggish process of phagocytosis and concomittant intestinal dysbiosis leads to normalization of the leading indices of phagocytosis (PI, PA, NBT tests both spontaneous and stimulated), and enchances their phagocytic activity both during capture and formation of bactericidal activity and in the final stages of phagocytosis justifying the feasibility of a combined use of antibiotics, probiotic, low-dose birth control pills and autohemotherapy in the treatment of acne.

СLINICAL AND LABORATORY CHARACTERISTICS OF PATIENTS WITH ADOLESCENCE ACNE AND ACNE TARDA.

Acne is a chronic recurrent androgen-mediated disease of the pilosebaceous complex with a multifactorial genetically determined development mechanism. Currently, there is a tendency to persistent course of the disease, resistance to therapy forms of acne, late debut and change the clinical picture of acne. This could be due to various factors, such as polycystic ovary syndrome, microadenoma and pituitary adenoma, congenital adrenal hyperplasia, SAHA syndrome, etc. Objective - to study the degree of incidence of hyperprolactinemia in patients with acne and features of the clinical course of juvenile and late acne with a background of hyperprolactinemia. We conducted a case-control study, which included 267 patients with varying disease severity. All patients underwent clinical and dermatological examination and determination of prolactin level. The study found that hyperprolactinemia, associated and nonassociated with adenoma, or pituitary microadenoma, can act as a primary factor in the development of acne, promote the persistence of the disease, as well as change skin manifestations in the form of an increase in the area of skin lesions with a smaller accumulation of sebaceous follicles and low androgen-sensitivity, such as the lower third of the back. Thus, in the diagnosis of acne vulgaris, it is necessary to evaluate the hormonal profile of patients, in particular prolactin, especially in the presence of a persistent course, a late start, resistant to therapy forms.

Exacerbation of Behçet's syndrome and familial Mediterranean fever with menstruation.

OBECTIVES: Menstruation triggers several conditions such as migraine, recurrent aphthous stomatitis and acne vulgaris in healthy individuals. There is evidence that Behçet's syndrome (BS) and familial Mediterranean fever (FMF) may exacerbate during menstruation. The aim is to assess whether BS and FMF patients experience menstrual flares. METHODS: Females of reproductive age with BS and FMF seen consecutively at the outpatient clinic of Cerrahpasa Medical Faculty at Istanbul, as well as apparently healthy hospital workers were studied using a standardised questionnaire. BS patients were asked whether they experienced increased skin-mucosa lesions during the menstrual period. A similar questionnaire assessing this time the frequency of abdominal pain, chest pain and fever attacks was given to the patients with FMF. The healthy controls received both questionnaires. RESULTS: A total of 200 BS patients, 240 FMF patients and 250 healthy controls were studied. The most commonly reported symptom among both BS patients (51%) and healthy controls (62%) was the acneiform lesion. At least 79% patients with FMF reported attacks with menstruation, notably abdominal pain which, majority thought, could be differentiated from dysmenorrhea. Additionally, 76% of healthy controls reported having abdominal pain consistent most probably with dysmenorrhea. CONCLUSIONS: This survey showed that, in 68% of the patients with BS at least one skin mucosa lesion was exacerbated with menstruation, this was most commonly acneiform lesion. Menstruation had a slightly stronger effect on FMF, triggering at least one symptom in 79%. The main limitation of the study was the self-reported assessment methodology.

Heritability and GWAS Analyses of Acne in Australian Adolescent Twins.

Acne vulgaris is a skin disease with a multifactorial and complex pathology. While several twin studies have estimated that acne has a heritability of up to 80%, the genomic elements responsible for the origin and pathology of acne are still undiscovered. Here we performed a twin-based structural equation model, using available data on acne severity for an Australian sample of 4,491 twins and their siblings aged from 10 to 24. This study extends by a factor of 3 an earlier analysis of the genetic factors of acne. Acne severity was rated by nurses on a 4-point scale (1 = absent to 4 = severe) on up to three body sites (face, back, chest) and on up to three occasions (age 12, 14, and 16). The phenotype that we analyzed was the most severe rating at any site or age. The polychoric correlation for monozygotic twins was higher (r MZ = 0.86, 95% CI [0.81, 0.90]) than for dizygotic twins (r DZ = 0.42, 95% CI [0.35, 0.47]). A model that includes additive genetic effects and unique environmental effects was the most parsimonious model to explain the genetic variance of acne severity, and the estimated heritability was 0.85 (95% CI [0.82, 0.87]). We then conducted a genome-wide analysis including an additional 271 siblings - for a total of 4,762 individuals. A genome-wide association study (GWAS) scan did not detect loci associated with the severity of acne at the threshold of 5E-08 but suggestive association was found for three SNPs: rs10515088 locus 5q13.1 (p = 3.9E-07), rs12738078 locus 1p35.5 (p = 6.7E-07), and rs117943429 locus 18q21.2 (p = 9.1E-07). The 5q13.1 locus is close to PIK3R1, a gene that has a potential regulatory effect on sebocyte differentiation.

Sensitivity to change of the Dermatology Life Quality Index in adult females with facial acne vulgaris: a validation study.

BACKGROUND: The postadolescent form of acne papulopustulosa, also referred to as 'acne tarda' can have substantial negative impact on Quality of Life, especially in adult female patients. OBJECTIVE: Although the Dermatology Life Quality Index (DLQI) is widely used, empirical evidence about its performance in adult female acne patients is lacking. METHODS: In this prospective cohort study, we have investigated the sensitivity to change of the DLQI in 53 female adult acne patients with mild to moderate facial acne treated with azelaic acid (AzA) 15% gel twice daily over 24 weeks. RESULTS: Mean Investigator Static Global Assessment (ISGA) score was 2.3 (SD 0.5) at baseline and ranged from 0.9 (SD 0.3) to 2.1 (SD 0.4) at the end of the study in the 'Highly Improved' and 'Unchanged' responder groups respectively. The mean baseline DLQI score was 5.1 (SD 4.2). The Effect Size in the responder group 'Highly Improved' was 0.66; in group 'Improved' 0.62 and 0.23 in group 'Unchanged'. At the end of study, the mean DLQI score ranged from 1.1 (SD 1.5) in the 'Highly Improved' group to 3.7 (SD 6.0) in the 'Unchanged' group. CONCLUSION: The results support the sensitivity to change of the DLQI in this population.