The Van der Woude syndrome: a case report and review of the literature.

گزارش یک مورد سندرم VAN DER WOUDE

Ellis-van Creveld with an Unusual Dental Anomaly: A Case Report

The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities. It is a rare condition, with very few cases reported in the medical literature. It is inherited as an autosomal re...

Eosinophilic Cellulitis: Report of a case and literature review

Eosinophilic cellulitis is a rare skin disorder may be idiopathic or be associated with other conditions. We present a 42- year- old female patient with bilateral atypical cellulitis – like lesions on her arms. The patient had a documented infection with Leptospira recently, and had a positive history for fascioliasis two years before.Histopathology examination of the l...

McCune-Albright Syndrome: A Case Report and Literature Review

McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities.  We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentat...

Unusual diagnosis of Von Hippel Lindau syndrome on PET/CT - Case report and brief review of literature

  We report an unusual case of a young male with cerebellar hemangioblastoma treated previously for medullary carcinoma of thyroid, whose PET/CT scans revealed a constellation of findings that suggested the rare Von Hippel Lindau syndrome. The diagnosis was clinched by confirming the findings on whole body contrast enhanced computed tomography (CECT) and contrast enha...

Rothmund-Thomson Syndrome with Malignant Fibrous Histiocytoma: Report of a Case and Review of Literature

Rothmund–Thomson syndrome is a rare autosomal recessive genodermatosis characterized by early onset of poikiloderma and several other cutaneous and organ involvements. We are going to report a 14-year-old girl who has been diagnosed with Rothmund– Thomson syndrome since she was 3 years old and has been suffering from pain and swelling of the right elbow and forearm for about 6 months. There are...