Acanthosis nigricans. abnormal facial appearance and dentition in an insulin resistance syndrome

ABSTRACT

Insulin resistance syndromes are a heterogeneous group of disorders with variable clinical phenotypes, associated with increased blood glucose and insulin levels. Herein, a 10-year old girl with abnormal face and dentition is presented. She has suffered from diabetes mellitus type 1 since she was 6 years old. Hyperglycemia did not respond to age appropriate insulin dosage; therefore, insulin dosage was increased, but did not lead to appropriate glycemic control. Twenty two exons of insulin receptor gene [INSR], on short arm of chromosome 19, were sequenced, but no identifiable disease causing mutation was detected. Although a rare mutation within the intronic or promoter region has not been exduded in this case, further molecular studies on patients with insulin resistance syndromes associated with certain features are needed