A Case with Lipoid Proteinosis Intersected with Diabetes Mellitus - Case Report

Abstract
Lipoid proteinosis (LP) is a rare disorder inherited as an autosomal recessive trait. LP is characterized by deposition of hyaline-like material in the skin, mucous membranes, and other tissues. LP has been mapped to chromosome 1q21, the locus for the extracellular matrix protein 1 (ECM1) gene. In this case report, we aimed to present a case with LP accompanied by diabetes mellitus, and to discuss the possible mechanisms of diabetes in LP. A 16-year-old girl presented to the endocrinology department with hyperglycemia. She reported a history of progressive hoarseness of her voice since she was two years old. Our patient meets the clinical and histopathological criteria for the diagnosis of LP. Her fasting glucose was 310 mg/dl. Plasma insulin and C-peptide levels were 5.1 uU/ml and 1.57 ng/ml,respectively. Hemoglobin A1c was 12.3%. HOMA-IR (Homeostasis Model Assessment-Insulin Resistance) ratio was 3.1 (normal range <3.7). Serum islet cell antibodies, anti-GAD antibodies and anti-insulin antibodies were negative. Diabetes mellitus was diagnosed and insulin treatment was initiated. In conclusion, possible mechanism of diabetes mellitus may be result of the diffuse deposition of amorphous material into the capillary vessels or in pancreas. The other possible mechanism responsible for the association of diabetes mellitus and insulin resistance in LP patients may be sharing a mutation at 1q21 locus. Future studies which aimed screening of insulin resistance and diabetes mellitus in LP patients may be helpful to explain this association.