Utility of "Acanthosis Nigricans" and "Skin Tags" as a screening tool for risk of developing noncommunicable diseases: A cross-sectional study at a health facility in Lucknow (India).

Context: Over the past three decades, there has been a significant rise in the prevalence of noncommunicable diseases (NCDs) globally, accompanied by a relative decline in communicable diseases. Aims: With this background, the research was planned to determine the prevalence of acanthosis nigricans (AN) or skin tags (STs) in the study population and to examine the relationship between the presence of AN and ST with commonly used indicators such as waist-to-height ratio (W/Ht.), Indian Diabetes Risk Score (IDRS), and body mass index for predicting the risk of NCDs. Settings and Design: This cross-sectional study was done at a health facility in Lucknow (India). Methodology: Consecutive sampling was employed to select 152 apparently healthy adults as the participants. Data collection involved administering a questionnaire and conducting anthropometry using standardized methods. Visual inspection was conducted to identify AN or ST on the common sites. Statistical Analysis Used: Data entry was done in Microsoft Office Excel, followed by data analysis using SPSS. To test the association between variables "significance of difference of mean," Chi-square test, logistic regression analysis, and estimation of Kohen's kappa were used. A "P" value was considered statistically significant at <0.05 level. The sensitivity and specificity of AN and ST were also estimated in predicting the risk of NCDs. Results: The prevalence of AN was 19.08% (95% confidence interval [CI] = 12.76%-25.40%), while the prevalence of STs was 28.29% (95% CI = 21.05%-35.53%). AN showed a sensitivity of 22.4% and specificity of 96.3% with W/Ht. ratio as the standard, and a sensitivity of 26.44% and specificity of 90.77% with IDRS as the standard. ST exhibited a sensitivity of 32.0% and specificity of 88.89% with W/Ht. ratio as the standard, and a sensitivity of 37.93% and specificity of 84.62% with IDRS as the standard. Conclusion: AN and ST can be used as simple and time-saving tools in screening protocols for (NCDs). Further research is desirable to validate the findings.

Résumé Contexte: Au cours des trois dernières décennies, il y a eu une augmentation significative de la prévalence des maladies non transmissibles (MNT) à l'échelle mondiale, accompagnée d'un déclin relatif des maladies transmissibles. Objectifs: Dans ce contexte, la recherche était prévue pour déterminer la prévalence de l'acanthose nigricans (AN) ou des acrochordons (ST) dans la population étudiée et pour examiner la relation entre la présence d'AN et de ST avec des indicateurs couramment utilisés tels que la taille. rapport taille (W/Ht.), score de risque de diabète indien (IDRS) et indice de masse corporelle pour prédire le risque de MNT. Paramètres et conception: cette étude transversale a été réalisée dans un établissement de santé à Lucknow (Inde). Méthodologie: Un échantillonnage consécutif a été utilisé pour sélectionner 152 adultes apparemment en bonne santé comme participants. La collecte de données impliquait l'administration d'un questionnaire et la réalisation d'anthropométries à l'aide de méthodes standardisées. Une inspection visuelle a été réalisée pour identifier AN ou ST sur les sites communs. Analyse statistique utilisée: La saisie des données a été effectuée dans Microsoft Office Excel, suivie d'une analyse des données à l'aide de SPSS. Pour tester l'association entre les variables " signification de la différence de moyenne ", le test du chi carré, l'analyse de régression logistique et l'estimation du kappa de Kohen ont été utilisés. Une valeur " P " a été considérée comme statistiquement significative au niveau < 0,05. La sensibilité et la spécificité de l'AN et du ST ont également été estimées pour prédire le risque de MNT. Résultats: La prévalence de l'AN était de 19,08 % (intervalle de confiance à 95 % [IC] = 12,76 % à 25,40 %), tandis que la prévalence des ST était de 28,29 % (IC à 95 % = 21,05 % à 35,53 %). AN a montré une sensibilité de 22,4 % et une spécificité de 96,3 % avec W/Ht. ratio comme standard, et une sensibilité de 26,44 % et une spécificité de 90,77 % avec IDRS comme standard. ST présentait une sensibilité de 32,0 % et une spécificité de 88,89 % avec W/Ht. ratio comme standard, et une sensibilité de 37,93 % et une spécificité de 84,62 % avec IDRS comme standard. Conclusion: AN et ST peuvent être utilisés comme des outils simples et permettant de gagner du temps dans les protocoles de dépistage des (MNT). Des recherches plus approfondies sont souhaitables pour valider les résultats. Mots-clés: diagnostic d'Acanthosis nigricans, dépistage des maladies non transmissibles, diagnostic des acrochordons.

Phenotype and predictors of insulin independence in adults presenting with diabetic ketoacidosis: a prospective cohort study.

AIMS/HYPOTHESIS: The aim of this work was to describe the phenotype of adults presenting with a first episode of diabetic ketoacidosis (DKA) in Cape Town, South Africa, and identify predictors of insulin independence at 12 and 60 months after presentation. METHODS: A prospective, descriptive cohort study of all individuals, 18 years or older, presenting for the first time with DKA to four public-sector hospitals of the Groote Schuur Academic Health Complex was performed. Clinical, biochemical and laboratory data including GAD antibody and C-peptide status were collected at baseline. Insulin was systematically weaned and stopped in individuals who achieved normoglycaemia within the months after DKA. Individuals were followed for 12 months and then annually until 5 years after initial presentation with ketoacidosis. RESULTS: Eighty-eight individuals newly diagnosed with diabetes when presenting with DKA were included and followed for 5 years. The mean ± SD age was 35±10 years and the median (IQR) BMI at diagnosis was 28.5 (23.3-33.4) kg/m2. Overall, 46% were insulin independent 12 months after diagnosis and 26% remained insulin independent 5 years after presentation. Forty-one participants (47%) tested negative for anti-GAD and anti-IA-2 antibodies and had C-peptide levels >0.3 nmol/l; in this group, 68% were insulin independent at 12 months and 37% at 5 years after diagnosis. The presence of acanthosis nigricans was strongly associated with insulin independence (OR 27.1 [95% CI 7.2, 102.2]; p<0.001); a positive antibody status was associated with a lower likelihood of insulin independence at 12 months (OR 0.10 [95% CI 0.03, 0.36]; p<0.001). On multivariable analysis only acanthosis (OR 11.5 [95% CI 2.5, 53.2]; p=0.004) was predictive of insulin independence 5 years after diagnosis. CONCLUSIONS/INTERPRETATION: The predominant phenotype of adults presenting with a first episode of DKA in Cape Town, South Africa, was that of ketosis-prone type 2 diabetes. These individuals presented with obesity, acanthosis nigricans, negative antibodies and normal C-peptide and could potentially be weaned off insulin at follow-up. Classic type 1 diabetes (lower weight, antibody positivity, low or unrecordable C-peptide levels and long-term insulin dependence) was less common. The simple clinical sign of acanthosis nigricans is a strong predictor of insulin independence at 12 months and 5 years after initial presentation.

Combination of metformin with liraglutide in treating HAIR-AN syndrome in children: A case report and literature review. / 二甲双胍联合利拉鲁肽治疗儿童HAIR-AN综合征1ä¾‹å¹¶æ–‡çŒ®å¤ä¹ .

Hyperandrogenism-insulin resistance-acanthosis nigricans (HAIR-AN) syndrome is a special and rare subtype of polycystic ovarian syndrome. It can lead to hyperandrogenism (HA), insulin resistance (IR), and acanthosis nigricans (AN) accompanied by acne, hirutism, irregular menstruation, and other androgen excess symptoms. A case of pediatric HAIR-AN syndrome with severe AN was admitted to the Department of Endocrinology, China-Japan Friendship Hospital. The patient's clinical manifestations, laboratory data, imaging features, and gene sequencing were analyzed, and the patient was diagnosed with pediatric HAIR-AN syndrome. Obesity, IR, hyperglycemia, menstrual disorder, and AN were significantly improved after treating with metformin and liraglutide. HAIR-AN syndrome occurs in various forms. When the patient appears unexplained acanthosis nigricans and menstrual disorders, the disease should be considered possible. Early diagnosis and symptomatic supportive treatment can improve the quality of life.

Cardiometabolic risk factors among children who are affected by overweight, obesity and severe obesity.

Background: The increasing severity of obesity is expected to lead to more serious health effects. However, there is limited information on the prevalence and clinical characteristics of cardiometabolic risk factors in severely children affected by obesity in Malaysia. This baseline study aimed to investigate the prevalence of these factors and their association with obesity status among young children. Methods: In this study, a cross-sectional design was employed using the baseline data obtained from the My Body Is Fit and Fabulous at school (MyBFF@school) intervention program involving obese school children. Obesity status was defined using the body mass index (BMI) z-score from the World Health Organization (WHO) growth chart. Cardiometabolic risk factors presented in this study included fasting plasma glucose (FPG), triglycerides (TGs), total cholesterol, high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), blood pressure, acanthosis nigricans, insulin resistance (IR), and MetS. MetS was defined using the International Diabetes Federation (IDF) 2007 criteria. Descriptive data were presented accordingly. The association between cardiometabolic risk factors, such as obesity status, and acanthosis nigricans with MetS was measured using multivariate logistic regression, which was adjusted for gender, ethnicity, and strata. Results: Out of 924 children, 38.4% (n = 355) were overweight, 43.6% (n = 403) were obese, and 18% (n = 166) were severely obese. The overall mean age was 9.9 ± 0.8 years. The prevalence of hypertension, high FPG, hypertriglyceridemia, low HDL-C, and the presence of acanthosis nigricans among severely children affected by obesity was 1.8%, 5.4%, 10.2%, 42.8%, and 83.7%, respectively. The prevalence of children affected by obesity who were at risk of MetS in <10-year-old and MetS >10-year-old was observed to be similar at 4.8%. Severely children affected by obesity had higher odds of high FPG [odds ratio (OR) = 3.27; 95% confdence interval (CI) 1.12, 9.55], hypertriglyceridemia (OR = 3.50; 95%CI 1.61, 7.64), low HDL-C (OR = 2.65; 95%CI 1.77, 3.98), acanthosis nigricans (OR = 13.49; 95%CI 8.26, 22.04), IR (OR = 14.35; 95%CI 8.84, 23.30), and MetS (OR = 14.03; 95%CI 3.97, 49.54) compared to overweight and children affected by obesity. The BMI z-score, waist circumference (WC), and percentage body fat showed a significant correlation with triglycerides, HDL-C, the TG: HDL-C ratio, and the homeostatic model assessment for IR (HOMA-IR) index. Conclusions: Severely children affected by obesity exhibit a higher prevalence of and are more likely to develop cardiometabolic risk factors compared to overweight and children affected by obesity. This group of children should be monitored closely and screened periodically for obesity-related health problems to institute early and comprehensive intervention.

Association of acanthosis nigricans with metabolic syndrome - An analytic cross-sectional study.

BACKGROUND: Globally, few studies have been undertaken to assess the association of acanthosis nigricans (AN) with metabolic syndrome (MS). Most of the available studies have either focused on a particular age group, gender, ethnicity or on a single component of MS. OBJECTIVES: To determine the association between AN and MS as a whole and with all individual components of MS in adult patients of either gender. MATERIAL AND METHODS: This was a cross-sectional study with a comparative group. Eighty-one subjects were recruited in each group. Fasting plasma glucose (FPG) and lipid profile were done. MS was defined by using the international diabetic federation (IDF) criteria. Association of body mass index (BMI), waist circumference, blood pressure, FPG, high-density lipoprotein (HDL) and triglycerides (TG) with AN was assessed by Pearson's chi-square test followed by univariate and multivariate analysis. RESULTS: The prevalence of MS was found to be significantly higher in the group with AN. On univariate analysis, a significant association of AN was found with BMI, waist circumference, high systolic and diastolic blood pressure, HDL, and TG. Multivariate analysis revealed a significant association between waist circumference, high systolic and diastolic blood pressure, and high TG levels with AN. The risk of MS was found to be eight times higher in cases of AN. STUDY LIMITATIONS: The small sample size and single-center data are the limitations of the present study. CONCLUSION: AN is strongly associated with MS as a whole and with its individual components including increased waist circumference, hypertension, and dyslipidemia.

T follicular helper phenotype mycosis fungoides associated with acanthosis nigricans.

The association between acanthosis nigricans (AN) and mycosis fungoides (MF) has rarely been described, but it is known that MF may appear as AN-like vegetating and papillomatous plaques in skin folds, or may be associated with paraneoplastic AN. There have also been recent descriptions of a form of "intertriginous MF" that is characterized by skin fold involvement and the expression of T follicular helper (TFH) markers, and that often has an aggressive course. We describe the case of a 48-year-old man affected by MF associated with AN, whose lesions were characterized by a TFH immunophenotype and the expression of the GATA-3 nuclear master regulator that may be related to a TFH-2 subpopulation or possible disease progression.

Evaluation of androgen-dependent skin findings of polycystic ovary syndrome (PCOS).

AIM: The purpose of the study was to investigate the biochemical and metabolic abnormalities related to the cutaneous characteristics of PCOS. MATERIAL­METHODS: Patients diagnosed with PCOS were included in the study. Demographic data and accompanying androgen-dependent skin findings (acne, seborrhea, androgenic alopecia, acanthosis nigricans, skin tag, and hirsutism) were recorded. The free testosterone, total testosterone, dehydroepiandrosterone sulfate, androstenedione,17-Hidroksi progesterone, sex hormone binding globulin, prolactin, fasting glucose, fasting insulin, HbA1C, HDL, and triglycerides, follicle-stimulating hormone, luteinized hormone, free androgen index, and HOMA-IR levels of the patients were measured. The hormonal values of the patients with PCOS with and without skin findings were compared. RESULTS: The HOMA-IR values of the acanthosis nigricans (+) PCOS group were significantly higher than the acanthosis nigricans (-) PCOS group (p < .001). The DHEA-SO4, FAI, and FI values of patients with hirsutism (HR) (+) PCOS were found to be statistically higher than patients with HR (-) PCOS (p = .006, p = .015, p = .004). CONCLUSION: PCOS is among the most common endocrine disorders of women of reproductive age and was associated with some hormonal, metabolic, and skin findings. Certain androgenic and metabolic variables developing in PCOS might correlate with cutaneous symptoms.

Association between acanthosis nigricans and overweight with hypertension in children and adolescents from low-income families.

OBJECTIVE: This study aimed to describe the prevalence of acanthosis nigricans and high blood pressure in children and adolescents from low-income families, and to verify the association of elevated blood pressure with nutritional status and the presence of acanthosis nigricans. METHODS: This is a cross-sectional and controlled study with 232 children and adolescents from an institution for low-income families. Pubertal stage, body mass index Z-score, waist-to-height circumference ratio (increased waist-to-height circumference ratio >0.5), the presence of acanthosis nigricans, and blood pressure were assessed. RESULTS: The prevalence of excess weight and the change in waist-to-height circumference ratio was 37.9%. Acanthosis nigricans and increased blood pressure occurred in 20.3 and 34.8%, respectively. The prevalence of acanthosis nigricans and hypertension was higher in individuals with excess weight (p<0.001; p<0.001) and with an increased waist-to-height circumference ratio (p=0.009; p<0.001). Logistic regression showed a significant and independent association of body mass index Z-score (OR 2.35; 95%CI 1.52-3.65; p<0.001) and the presence of acanthosis nigricans (OR 2.43; 95%CI 1.12-5.23; p=0.023) with elevated blood pressure. CONCLUSION: Acanthosis nigricans and elevated blood pressure occurred in one-fifth and one-third of the individuals in an institution for children from low-income families. Overweight and the presence of acanthosis nigricans increased the risk of high blood pressure more than twofold.

Insulin resistance in various grades of acanthosis nigricans.

INTRODUCTION: Insulin resistance (IR) is a metabolism disorder that contributes to the pathophysiology of acanthosis nigricans (AN). In turn, AN is a self-determining risk factor and cutaneous marker of IR. However, conflicting evidence makes the AN-IR relationship debatable and open to exploration. If established, it could provide opportunities for early diagnosis and management of IR before the onset of diabetes mellitus and its complications by screening AN patients. This study investigates the prevalence of IR among AN patients and evaluates the association between IR and AN severity. METHODS: Eighty-seven patients, 18 to 60 years old, with untreated AN and absence of diabetes mellitus, underwent detailed history, systemic, and cutaneous examinations, as well as measurement of their body mass index (BMI), waist and hip circumference and their ratio (WHR), fasting blood glucose (FBG) and lipid profile, fasting serum insulin levels, and quantitative insulin-sensitivity check index (QUICKI). Severity of the neck lesions was graded according to Burke et al.'s grading system. RESULTS: AN was noted most commonly in younger age groups with 93.1% of the cases younger than 45. All patients had lesions on the neck, and 63.3% of the cases had multiple site involvement. Nearly 84% of the cases were overweight or obese. AN grades exhibited a significant positive association with BMI (p = 0.002) and WHR (p = 0.016). High IR (< 0.35 QUICKI) was seen in 55 (63.2%) AN patients. IR, QUICKI, and triglyceride levels showed no significant association with AN severity and the number of AN lesion sites (p > 0.05). LDL levels (p = 0.02) and WHR (p = 0.049) showed a significant positive association with the number of AN lesion sites, but not with AN severity grading (p > 0.05). CONCLUSIONS: IR is present in AN patients, but the association between IR and AN severity is not significant enough to qualify AN as a screening tool for IR.

Determining independence and associations among various cardiovascular disease risk factors in 9-12 years old school-children: a cross sectional study.

BACKGROUND: Cardiovascular disease (CVD) risk assessment of children typically includes evaluating multiple CVD risk factors some of which tend to correlate each other. However, in older children and young adolescents, there are little data on the level of independence of CVD risk factors. The purpose of this study was to examine the relationships among various CVD risk factors to determine the level of independence of each risk factor in a sample of 5th-grade public school students. METHOD: A cross-sectional analysis of 1525 children (856 girls and 669 boys; age: 9-12 years) who participated in baseline CVD risk assessment for the (S)Partners for Heart Health program from 2010 - 2018. Thirteen CVD risk factor variables were used in the analysis and included blood lipids [low-density lipoprotein (LDL), high-density lipoprotein (HDL), total cholesterol (TC), and triglycerides], resting systolic and diastolic blood pressure (BP); anthropometrics [height, weight, body mass index (BMI), % body fat, waist circumference (WC)]. Additionally, acanthosis nigricans (a marker insulin resistance and diabetes), and cardiorespiratory fitness (VO2 ml/kg) was estimated using the PACER. Descriptive statistics, bivariate Pearson correlations, and principal component analysis were used to determine the relationships among these variables and the independence. RESULTS: Parallel analysis indicated two components should be extracted. Among the two components extracted, WC, % body fat, and BMI loaded highest on component 1, which explained 34% of the total variance. Systolic BP and diastolic BP loaded predominantly on component 2 and accounted for 17% of the variance. Cardiorespiratory fitness, acanthosis nigricans, HDL, and triglycerides loaded highest on the first component (loadings between 0.42 and 0.57) but still suggest some non-shared variance with this component. Low-density lipoprotein had low loadings on each component. Factor loadings were stable across sex. CONCLUSION: Among the various CVD risk indicators, measures of adiposity loaded highest on the component that explained the largest proportion of variability in the data reinforcing the importance of assessing adiposity in CVD risk assessment. In addition, blood pressure loaded highest on the second component, suggesting their relative independence when assessing CVD risk. The data also provide support and rationale for determining what CVD risk factors to include- based on resource needs. For example, researchers or public health programs may choose to assess WC instead of lipid profile for cardiovascular related problems if ease of assessment and cost are considerations.

Confluent and reticulated papillomatosis in pediatric patients at an urban tertiary care center.

Confluent and reticulated papillomatosis (CARP) is a dermatosis that often presents during adolescence. Prior studies have linked CARP to metabolic syndrome and comorbidities associated with insulin resistance, such as acanthosis nigricans and type 2 diabetes. Despite this, few studies have evaluated the clinical relationship between glucose dysmetabolism and CARP. In this report, we describe the characteristics of a large cohort of pediatric patients with CARP to further evaluate the potential relationship between CARP and metabolic syndrome in children.

FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model.

Crouzon syndrome with acanthosis nigricans (CAN, a rare type of craniosynostosis characterized by premature suture fusion and neurological impairments) has been linked to a gain-of-function mutation (p.Ala391Glu) in fibroblast growth factor receptor 3 (FGFR3). To characterize the CAN mutation's impact on the skull and on brain functions, we developed the first mouse model (Fgfr3A385E/+) of this syndrome. Surprisingly, Fgfr3A385E/+ mice did not exhibit craniosynostosis but did show severe memory impairments, a structurally abnormal hippocampus, low activity-dependent synaptic plasticity, and overactivation of MAPK/ERK and Akt signaling pathways in the hippocampus. Systemic or brain-specific pharmacological inhibition of FGFR3 overactivation by BGJ398 injections rescued the memory impairments observed in Fgfr3A385E/+ mice. The present study is the first to have demonstrated cognitive impairments associated with brain FGFR3 overactivation, independently of skull abnormalities. Our results provide a better understanding of FGFR3's functional role and the impact of its gain-of-function mutation on brain functions. The modulation of FGFR3 signaling might be of value for treating the neurological disorders associated with craniosynostosis.

Prevalence of skin diseases in school-age children.

BACKGROUND: The prevalence of community-based skin diseases, especially among school-age children, depends on topography, climate, and age of population. OBJECTIVE: We determined the prevalence of skin diseases among community-based primary school-age children and identified demographic characteristics in relation to particular skin conditions. METHODS: This was a cross-sectional descriptive survey study of a subproject school cohort in children aged 5-14 years of 2 community-based primary schools. Demographic data and whole-body skin examination were collected. The association of individual skin conditions was analysed by using bivariate and multivariable binary logistic regression. RESULTS: A total of 556 children were enrolled in this study. Of these, 90.2% had at least 1 skin disease. The most common skin disease was postinflammatory hyperpigmentation (PIH) (58.3%), followed by nevus/mole (40.1%), insect bite reaction (28.0%), acanthosis nigricans (20.0%), acne (13.7%), and pityriasis alba (12.9%). There was an increase of body mass index (BMI) in PIH and acanthosis nigricans with the adjusted odds ratios of 2.01 (95% confidence interval [CI] 1.40-2.87, P < 0.001) and 1.93 (95% CI 1.49-2.49, P < 0.001), respectively. Insect bite reaction was related to PIH with the adjusted odds ratio of 5.66 (95% CI 3.15-10.17, P = 0.001). CONCLUSIONS: The most common skin disease in community-based primary school-age children is PIH which related to acanthosis nigricans and insect bite reaction. A decrease of BMI may lower the risk for PIH and acanthosis nigricans. Education on common skin diseases is recommended for both community-based schools and school-age children.

Clinical signs, interventions, and treatment course of three different treatment protocols in patients with Crouzon syndrome with acanthosis nigricans.

OBJECTIVE: Crouzon syndrome with acanthosis nigricans (CAN) is a rare and clinically complex subtype of Crouzon syndrome. At three craniofacial centers, this multicenter study was undertaken to assess clinical signs in relation to the required interventions and treatment course in patients with CAN. METHODS: A retrospective cohort study of CAN was performed to obtain information about the clinical treatment course of these patients. Three centers participated: Erasmus Medical Centre, Rotterdam, the Netherlands; John Radcliffe Hospital, Oxford, United Kingdom; and Hôpital Necker-Enfants Malades, Paris, France. RESULTS: Nineteen patients (5 males, 14 females) were included in the study. All children were operated on, with a mean of 2.2 surgeries per patient (range 1-6). Overall, the following procedures were performed: 23 vault expansions, 10 monobloc corrections, 6 midface surgeries, 11 foramen magnum decompressions, 29 CSF-diverting surgeries, 23 shunt-related interventions, and 6 endoscopic third ventriculostomies, 3 of which subsequently required a shunt. CONCLUSIONS: This study demonstrates that patients with the mutation c.1172C>A (p.Ala391Glu) in the FGFR3 gene have a severe disease trajectory, requiring multiple surgical procedures. The timing and order of interventions have changed among patients and centers. It was not possible to differentiate the effect of a more severe clinical presentation from the effect of treatment order on outcome.

Relationship between acanthosis nigricans, acrochordon and metabolic syndrome in patients with lichen planus.

AIM: In the literature, there are no data examining the association with lichen planus with acanthosis nigricans and acrochordon, which are skin findings of metabolic syndrome (MS). MATERIALS: A total of 108 lichen planus (LP) patients, age and sex-matched 109 controls, 217 patients in total were prospectively included in the study. RESULTS: Metabolic Syndrome was found in 55 (50.9%) of 108 patients with lichen planus and 36.7% in the control group. The frequency of MS in the lichen planus group was found to be significantly higher than that in the control group (P = .03). The incidence of acanthosis nigricans (AN) was statistically higher in the LP group (P = .009). In addition, while 38 of 47 AN patients in the LP group had MS, 17 of 61 patients without AN had MS, and the presence of MS was found significantly higher in LP patients with AN (p˂0.001). The incidence of acrochordon was statistically higher in the LP group (P = .03). In addition, while 43 of 62 patients with acrochordon in the LP group had MS, 12 of 46 patients without acrochordon had MS, and the presence of MS was found significantly higher in patients with LP with acrochordon (P Ë‚ .001). CONCLUSION: In our study, it was found that skin findings such as AN and acrochordon increased in patients with lichen planus. This increase was also observed in lichen planus patients with metabolic syndrome. Therefore, the association of acanthosis nigricans and acrochordon may be a predictive of metabolic syndrome in patients with lichen planus admitted to the dermatology outpatient clinic.

Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance Syndrome.

Objective: Defects in the insulin receptor (INSR) gene cause various severe insulin resistance conditions, including Donohue syndrome (DS), Rabson-Mendenhall syndrome (RMS) and type A insulin resistance (type A-IR). This study aimed to investigate the clinical characterization and molecular defects in three Chinese children with INSR-related insulin resistance syndrome. Methods: We reviewed the clinical data of three Chinese children with INSR-related insulin resistance syndrome from two unrelated kindreds. Genetic analysis was performed using whole-exome sequencing and the effects of the novel variants were further assessed by in vitro functional assays. Results: The proband with type A-IR presented with acanthosis nigricans, hypertrichosis, and euglycemia with mild insulin resistance in early childhood. His sister presented with features typical of type A-IR and was diagnosed with diabetes mellitus with severe insulin resistance at the age of 9.8 years. The proband with DS showed typical dysmorphic characteristics, severe intrauterine growth retardation, extreme insulin resistance, fasting hypoglycemia and postprandial hyperglycemia from birth. The heterozygote variants c.[3670G>A]; c.[3614C>T] were identified in both siblings with type A-IR; and c.[749_751del]; c.[3355C>T] in the patient with DS. In vitro studies showed that the novel variant c.749_751del [p.(Thr250del)] in the α-subunit, reduced expression of the mature INSR protein and severely impaired INSR function. In contrast, the novel variant c.3670G>A [p.(Val1224Met)] in the ß-subunit had no effect on total protein expression and phosphorylation of INSR and Akt, suggesting that the variant p.Val1224Met appeared to be tolerated and was not responsible for the severe insulin resistance. Conclusion: Our study detailed the clinical features of three patients with type A-IR and DS, and identified two novel variants in the INSR gene. Functional assays indicated the novel variant p.Thr250del was pathogenic. In contrast, the novel variant p.Val1224Met was suggested to be tolerated by our experimental data, even though bioinformatics analyses predicted the variant as deleterious.

Hyperandrogenism, Insulin Resistance, and Acanthosis Nigricans (HAIR-AN) Syndrome Reflects Adipose Tissue Dysfunction ("Adiposopathy" or "Sick Fat") in Asian Indian Girls.

BACKGROUND: Whether HAIR-AN syndrome and polycystic ovarian syndrome (PCOS) are distinct entities or represent a phenotypic spectrum of the same syndrome is still unclear. HAIR-AN syndrome is characterized by high insulin resistance, obesity, and hyperinsulinemia as compared to PCOS and could represent adipose tissue dysfunction as the primary pathophysiologic trigger. This study was undertaken to study the role of adipose tissue dysfunction in HAIR-AN syndrome and PCOS using adipocytokines as surrogate markers of "adiposopathy." MATERIALS AND METHODS: A cross-sectional observational study was conducted at a tertiary care hospital over a period of 1 year. Serum adiponectin, leptin, IL-6, and TNF-α levels were measured in 30 women with HAIR-AN syndrome and in 30 women with PCOS. Correlations between adipocytokines, inflammatory markers, serum testosterone, and serum insulin were determined. Data analysis was performed using the SPSS version 23.0 (IBM SPSS Statistics Inc., Chicago, IL, USA) software program. RESULTS: Women with HAIR-AN syndrome had significantly higher hyperandrogenemia, hyperinsulinemia, and insulin resistance as compared to PCOS women. They also had high leptin levels and lower adiponectin levels (p < 0.001). However, the levels of inflammatory markers (TNF-α and IL-6) were similar in both the groups (p > 0.05). Serum adiponectin showed a negative correlation with HOMA-IR and testosterone levels, while leptin showed a positive correlation with both in HAIR-AN patients while no such correlation was found in the PCOS group. CONCLUSION: The significantly raised adipocytokines in HAIR-AN syndrome patients as compared to PCOS patients indicates the primary role of adipose tissue dysfunction ("adiposopathy") in the pathogenesis of HAIR-AN syndrome while only a minor role, if any, in PCOS. Both these syndromes stand as distinct entities pathogenically with an overlapping phenotype.

Beare-Stevenson Syndrome With Blepharoptosis as a Complication of Front-Orbital Advancement and Remodeling.

Beare-Stevenson syndrome (BSS) is an extremely rare genetic disorder characterized by a broad range of congenital malformations including craniosynostosis, cutis gyrata, facial deformities, and abnormal genitalia. The authors report a case of a 7 month old female who developed a mechanical ptosis secondary to dermatochalasis as a complication of fronto-orbital advancement and remodeling (FOAR) surgery which subsequently required multiple lid surgeries to reverse ptosis. This is the first report of blepharoptosis correction in a child with BSS as a complication of FOAR.

Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature.

Early development of extensive acanthosis nigricans (AN) is a key feature in some patients who have hypochondroplasia (HCH) in association with FGFR3 mutations. We here report regarding five new patients with HCH who exhibited AN, and we compare their characteristics to the eight patients previously described in the literature. In these patients, the AN lesions began in childhood, and they were extensive. These lesions were located on the torso, the abdomen, and the face, in addition to the typical skin fold sites. Other skin lesions were frequently reported: café-au-lait macules, melanocytic nevi, lentigines, and seborrheic keratosis. The Lys650Thr mutation was the predominant reported mutation of FGFR3.