Familial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritance.

A family with Bart-Pumphrey syndrome

All member of family referred to our clinic complaining of white nails. Physical examination revealed clinical features of leukonychia totalis and also the presence of sensor ineural hearing loss (SNHL), palmoplantar keratoderma (PPK) and knuckle pads, the four essential criteria for the diagnosis of Bart Pumphrey syndrome. Three generations were affected with variable presentations in ma...

A Case of Gaucher\'s Disease with Recurrent Fetal Loss and Antiphospholipid Antibody Syndrome

Hamartomatous Polyposis Syndromes: Management and Surveillance Strategies

Introduction: Hamartomatous Polyposis Syndromes (HPS) are a rare group of dominant autosomal inheritance, which is characterized by the development of hamartomatous polyps in the gastrointestinal tract.  This syndrome included Juvenile Polyposis syndrome (JPS), Peutz-Jeghers syndrome (PJS), and PTEN Hamartoma Tumour Syndrome (PHTS). PTEN Hamartoma Tumour Syndrome (PHTS) itself includes Cowden ...

P46: Optic Neuritis as the First Manifestation of the Primary Antiphospholipid Antibody Syndrome

Optic neuritis is commonly associated with diseases such as Multiple Sclerosis, infections, taking special drugs, etc. but recently we have observed a patient that presented retro bulbar optic neuritis as a manifestation of antiphospholipid syndrome. A 35 y/o young woman with the history of chickenpox admitted to the Qhaem hospital (Mashhad, Iran) with the c/o progressive pain and blurred visio...

Genetic aspects and clinical characteristics of familial Meniere's disease in a South Korean population.

OBJECTIVES/HYPOTHESIS This study was undertaken to investigate the prevalence, inheritance patterns, and clinical characteristics of familial Meniere's disease (MD) in a South Korean population. STUDY DESIGN Direct interviews, telephone interviews, and reviews of the medical records of definite Meniere's disease patients and their families. METHODS Direct and telephone interviews were perfo...