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BACKGROUND. Tuberous sclerosis complex (TSC) is a neurogenetic syndrome due to loss-of-function mutations in TSC2 or TSC1, characterized by tumors at multiple body sites, including facial angiofibroma (FAF). Here, an ultrasensitive assessment of the extent and range of UV-induced mutations in TSC facial skin was performed. METHODS. A multiplex high-sensitivity PCR assay (MHPA) was developed, enabling mutation detection at extremely low ( RESULTS. MHPA assays were developed for both TSC2 and TP53, and applied to 81 samples, including 66 skin biopsies. UV-induced second-hit mutation causing inactivation of TSC2 was pervasive in TSC facial skin with an average of 4.8 mutations per 2-mm biopsy at median VAF 0.08%, generating more than 150,000 incipient facial tumors (subclinical 'micro-FAFs') in the average TSC subject. The MHPA analysis also led to the identification of a refined UV-related indel signature and a recurrent complex mutation pattern, consisting of both a single- nucleotide or dinucleotide variant and a 1- to 9-nucleotide deletion, in cis. CONCLUSION. TSC facial skin can be viewed as harboring a patchwork of clonal fibroblast proliferations (micro-FAFs) with indolent growth, a small proportion of which develop into clinically observable FAF. Our observations also expand the spectrum of UV-related mutation signatures. FUNDING. This work was supported by the TSC Alliance; the Engles Family Fund for Research in TSC and LAM; and the NIH, National Heart, Lung, and Blood Institute (U01HL131022-04 and Intramural Research Program)., Introduction Tuberous sclerosis complex (TSC) is a relatively common (incidence 1 in 6000 live births) autosomal dominant tumor suppressor gene syndrome, with prominent brain manifestations. TSC is due to loss-of-function [...]

Byline: Dua. Cebeci, sirin. Yasar, Pembegül. Günes, Sema. Aytekin Sir, Myopericytoma was first described by Granter et al . in 1998 as benign tumor showing a myoid/pericytic line of differentiation.[1] [...]

Byline: Alok. Sahoo, Savita. Yadav, Vinod. Sharma, Anita. Parihar, Surabhi. Vyas, Somesh. GuptaBackground: Available options for correction of facial volume loss, such as synthetic fillers, autologous fat and cultured fibroblasts, [...]

Byline: Manju. Meena, Manisha. Balai, Sharad. Mehta, Garima. Bharti Linear lesions following the lines of Blaschko of chronic cutaneous lupus erythematosus is a highly unusual variant of cutaneous lupus, particularly [...]

Several important longitudinal studies in the social sciences have omitted biomarkers that are routinely recorded today, including height and weight. To account for this shortcoming in the Wisconsin Longitudinal Study (WLS), an 11-point scale was developed to code high school senior class yearbook photographs of WLS participants for relative body mass (RBM). Our analyses show that although imperfect, the RBM scale is reliable ([alpha] = .91) and meets several criteria of validity as a measure of body mass. Measured at ages 17-18, the standardized relative body mass index (SRBMI) was moderately correlated (r = .31) with body mass index (BMI) at ages 53-54 and with maximum BMI reported between ages 16 and 30 (r = .48). Overweight adolescents ([greater than or equal to] 90th percentile of SRBMI) were about three times more likely than healthy-weight adolescents (10th-80th percentile of SRBMI) to be obese in adulthood and, as a likely consequence, significantly more likely to report health problems such as chest pain and diabetes. Overweight adolescents also suffered a twofold risk of premature death from all nonaccidental causes as well as a fourfold risk of heart disease mortality. The RBM scale has removed a serious obstacle to obesity research and lifelong analyses of health in the WLS. We suggest that other longitudinal studies may also be able to obtain photos of participants at younger ages and thus gain a prospectively useful substitute for direct measures of body mass.

Abstract Background: There is a paucity of information on the prevalence and severity of acne of the face, chest, and back. Purpose: This study was designed to examine the prevalence [...]