Skin in the game: an analysis of political financial contributions from U.S. dermatologists

Abstract

was also detected in this study. 1 No correlation between the phenotype and genotype was found. 1 Of the four Indian cases reported with mutational analysis, three showed R134C (c.400C>T) mutation. 2,4,5 All four patients presented with hyperpigmented plaques, diabetes mellitus, SNHL, and anemia and were stunted and wasted. 2,4,5 The teenage girl had primary amenorrhea and lack of secondary sexual characters, while the boy had low testosterone levels. 4,5 Mutations in the SLC29A3 are also believed to affect the insulin signaling pathway and cause hyperglycemia. 4 Exocrine pancreatic insufficiency is associated with H syndrome, 1 however in our case pancreatic enzymes were within normal limits. Hypothyroidism has been reported only once so far, 4 making it a unique clinical feature in our case. Though agenesis of the IVC has been described, 6 left-sided IVC as in our patient has not been documented.