Papillon lefevre – A rare syndrome
Journal Title: International Archives of Integrated Medicine - Year 2017, Vol 4, Issue 4
Abstract
Papillon lefevre syndrome (PLS) belongs to a heterogeneous group of skin diseases that are characterized by hyperkeratosis of palms and soles and presence of severe and early onset periodontitis. Genetic studies have shown that mutation in the major gene locus of chromosome 11q14 with the loss of function of cathepsin C (CTSC) gene is responsible for PLS. Loss of CTSC function is responsible for the severe periodontal destruction seen clinically. This report represents classical signs and symptoms of PLS in a 6 year old girl.
Authors and Affiliations
Abhima Kumar, Suhail M. Jan, Rafiya Nazir, Roobal Behal
Assessment of awareness about HIV/AIDS in slum areas of Jodhpur city
Background: Human immunodeficiency virus (HIV) infection, the disease, whose mode of transmission is known and is largely preventable, but due to lack of knowledge and practices in general population causes its continuou...
Takayasu Arteritis Presenting as Renal Failure in 8 year old female child
Takayasu arteritis also known as Aortic Arch Syndrome or Pulseless disease is an uncommon condition mainly affecting aorta and its branches. It is chronic inflammatory disease of unknown cause, so also called as non- spe...
General versus spinal anesthesia in percutaneous nephrolithotomy: A comparative study
Background: Percutaneous nephrolithotomy (PCNL) is usually done under general anesthesia (GA). However, it can be done under spinal anesthesia (SA) which can have advantages like less bleeding, less postoperative pain, l...
A study of oral Nifedipine and intravenous Labetalol in severe hypertension in pregnancy at teaching hospital
Background: Hypertensive disorders of pregnancy, including preeclampsia, complicate up to 10% of pregnancies worldwide, constituting one of the greatest causes of maternal and perinatal morbidity and mortality worldwide....
To study the spectrum of peripheral neuropathy in chronic kidney disease patients
Background: Chronic Kidney Disease (CKD) is a major public health problem in developed and developing countries, leading to decreased quality of life across the globe. Aim: The clinical and electrophysiological features...