Showing posts with label Aarskog syndrome. Show all posts
Showing posts with label Aarskog syndrome. Show all posts

Friday, 26 April 2013

Syndrome


Ramsay-Hunt Syndrome

Shingles infection (Herpes zoster) affects CN7 (facial nerve) near your ear.
Main symptoms: painful red rash with fluid-filled blisters on, in and around one ear; facial weakness
Results in: painful shingles rash, facial paralysis and hearing loss.
Treatments: high dose anti-viral treatment and corticosteroids


OCP (Ocular cicatrical pemphigoid)
OCP - stage 2


Subset of the mucous membrane pemphigoid (MMP);
Autoimmune disease characterized by T-lymphocyte dysregulation - the production of circulating autoantibodies directed against a variety of adhesion molecules in the hemidesmosome-epithelial membrane complex --> can affect the skin and other mucous membranes (oral, pharynx, larynx, trachea, esophagus, vagina, urethra, anus); chronic cicatrizing conjunctivities.
Characteristic: Slowly progressive and bilateral blinding
Average age of onset: 50-60 y.o



Aarskog syndrome


Heritable disease (x-linked), distinctive facial feature 
Facial feature: such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up during puberty. Hand abnormalities are common in this syndrome and include 

Some people with Aarskog-Scott syndrome are born with more serious abnormalities, such as heart defects or a cleft lip with or without an opening in the roof of the mouth (cleft palate)

Hand abnormalities are common in this syndrome and include Short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (syndactyly), and a single crease across the palm

 .
Affects development of many parts of the body.