Endocrine abnormalities in two siblings with Rothmund Thomson Syndrome
Journal Title: Annals of Clinical Endocrinology and Metabolism - Year 2018, Vol 2, Issue 1
Abstract
Rothmund-Thomson syndrome is a rare autosomal recessive disorder characterized by poikiloderma (skin atrophy, telangiectasia, hyper- and hypopigmentation), congenital skeletal abnormalities, short stature, premature aging, and increased risk of malignant disease. Two siblings with Rothmund-Thomson Syndrome showed the following characteristic features: severe growth failure, dystrophic nails, absent eyelashes/eyebrows, small hands, clinodactyly, microdontia and congential poikiloderma. In addition, delayed sexual development with cryptorchidism in the male and Hashimato thyroiditis in the female patient were detected. These cases are presented here because of these endocrine patterns, with the aim of drawing attention to the invisible aspects of Rothmund-Thomson syndrome.
Authors and Affiliations
Nagehan Aslan, Ozgur Pirgon
Keywords
Related Articles
- EP ID EP559461
- DOI 10.29328/journal.acem.1001010
- Views 36
- Downloads 0
Parathyroid Functions in Thalassemia Major Patients
Background: Hypoparathyroidism is well known to occur in thalassemia major patients, but it is thought to be uncommon and its incidence is considered to be decreasing with improvements in chelation therapy. The objective...
Comparison of Efficacy and Safety of Hydroxychloroquine and Teneligliptin in Type 2 Diabetes Patients who are Inadequately Controlled with Glimepiride, Metformin and Insulin therapy: A Randomized Controlled Trial with Parallel Group Design
Aim: The aim of the present study is to assess the efficacy and safety of Hydroxychloroquine in comparison with Teneligliptin in type 2 diabetes patients whose blood glucose levels were inadequately controlled with metfo...
Recurrent Cardiac Events Driven by Prothrombotic Burden in a Patient Undergoing Lipoprotein Apheresis for High Lp(a) Levels
Introduction: Lipoprotein (a) [Lp(a)] is a marker for cardiovascular disease, involved in pathogenesis and progression of atherosclerosis. In selected high-risk patients, lipoprotein-apheresis could optimize secondary pr...
New pharmacological strategies in some metabolic endocrine disorder under a toxicological approach
In this review After Observing biomedical literature (starting from some heart disease) results that some pathological phenomena are deeply involved in some metabolic endocrine condition: Kinetics and gradients in metabo...
A Pancreatic Neuroendocrine Tumor with an Unusual Flush
A 60-year-old man presented with an unusual history of lower limb flushing. A CT scan suggested a pancreatic neuroendocrine tumor. After a robotic distal pancreatectomy, his symptoms completely resolved. The tumor was po...