Cohen Syndrome with Acanthosis Nigricans and Insulin Resistance

Abstract

Cohen syndrome is a rare genetic disorder consisting of truncal obesity, hypotonia, mental retardation, microcephalia, characteristic facial appearance and ocular anomalies. Other diagnostic clinical features include narrow hands and feet, low growth parameters, neutropenia and chorioretinal dystrophy. Acanthosis nigricans is a cutaneous disorder characterized by hyperpigmentation and papillomatosis. Syndromal acanthosis nigricans may occasionally appear as a feature of several specific syndromes. We report a patient showing the typical characteristics of Cohen syndrome with acanthosis nigricans and hyperinsulinemia.

Metabolic Syndrome Manifestations in Cohen Syndrome: Description of two New Patients

“…Atabek et al and Kumandas et al reported that their patients showed the typical characteristics of Cohen syndrome with acanthosis nigricans and hyperinsulinemia. 13,14 In light of these articles, we evaluated our patients with Cohen syndrome for the features of metabolic syndrome. Metabolic syndrome was previously defined following modified World Health Organiza- tion criteria adapted for children as having three or more components: obesity, abnormal glucose homeostasis, hypertension, and/or dyslipidemia.…”

Bardet-Biedl Syndrome with Syndrome X: A Patient Report

“…It has been hypothesized that insulin resistance, with compensatory hyperinsulinism, leads to insulin binding to and activation of insulin-like growth factor receptors, promoting epidermal growth 17 . Acanthosis nigricans has classically been associated with obesity, drugs such as nicotinic acid, endocrinopathies, including diabetes mellitus, Addison's disease, Cushing's syndrome, acromegaly, hypo-and hyperthyroidism, and hyperandrogenic or hypogonadal syndromes.…”