Multiple aggregated yellow-white globules are a major dermoscopic sign of basal cell carcinoma regardless of their histological subtype.

Multiple aggregated yellow-white globules (MAY globules) have been recently described as dermoscopic structures of high specificity associated with high-risk non-pigmented basal cell carcinoma (BCC). To evaluate the diagnostic accuracy of MAY globules in a cohort of pigmented and non-pigmented BCC of all histological types. This was a retrospective case-control study. Dermoscopic and clinical images were all histopathologically confirmed as BCCs of patients seen consecutively at dermatology consultation. Control cases were benign or malignant tumours randomly selected from the database of 8,250 patients. A total of 389 BCCs were included. MAY globules were present in 192 (49%) cases in the BCC group and in only 25 cases in the control group (6,4%). The odds ratio for the diagnosis of BCC was 14.2 (95% CI: 9.62-20.95]). The presence of MAY globules was significant in three histological subtypes, including superficial BCCs. This study shows that MAY globules are a major dermoscopic sign for the diagnosis of BCC, regardless of their histological subtype and their pigmentation.

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta.

BACKGROUND: Congenital heart defects are the most frequent malformations among newborns and a frequent cause of morbidity and mortality. Although genetic variation contributes to congenital heart defects, their precise molecular bases remain unknown in the majority of patients. METHODS AND RESULTS: We analyzed, by high-resolution array comparative genomic hybridization, 316 children with sporadic, nonsyndromic congenital heart defects, including 76 coarctation of the aorta, 159 transposition of the great arteries, and 81 tetralogy of Fallot, as well as their unaffected parents. We identified by array comparative genomic hybridization, and validated by quantitative real-time polymerase chain reaction, 71 rare de novo (n=8) or inherited (n=63) copy-number variants (CNVs; 50 duplications and 21 deletions) in patients. We identified 113 candidate genes for congenital heart defects within these CNVs, including BTRC, CHRNB3, CSRP2BP, ERBB2, ERMARD, GLIS3, PLN, PTPRJ, RLN3, and TCTE3. No de novo CNVs were identified in patients with transposition of the great arteries in contrast to coarctation of the aorta and tetralogy of Fallot (P=0.002; Fisher exact test). A search for transcription factor binding sites showed that 93% of the rare CNVs identified in patients with coarctation of the aorta contained at least 1 gene with FOXC1-binding sites. This significant enrichment (P<0.0001; permutation test) was not observed for the CNVs identified in patients with transposition of the great arteries and tetralogy of Fallot. We hypothesize that these CNVs may alter the expression of genes regulated by FOXC1. Foxc1 belongs to the forkhead transcription factors family, which plays a critical role in cardiovascular development in mice. CONCLUSIONS: These data suggest that deregulation of FOXC1 or its downstream genes play a major role in the pathogenesis of coarctation of the aorta in humans.