Fearless

What would it be like to be fearless?  Would it be a good thing or would it be a daily tragedy?  Unfortunately their is a rare genetic disorder known as Urbach-Wiethe Disease.  

What exactly is Urbach-Wiethe Disease??

Also known as Lipoid proteinosis of Urbach and Wiethe; a rare congenital lipoid disease where lipids, carbohydrate and proteins are deposited into the blood vessel wall and other tissues.  It was first seen in 1929 by Erich Urbach and Camillo Wiethe.

Symptoms

The symptoms vary from person to person these are few:

• Inability to cry
• Itchy eyes
• Skin ulcers
• Hoarseness
• Mucosal ulcers
• Mucosal plaque 
• Increased blood phospholipids
• Increase urinary tyrosind
• Vocal cord growths
• Large tongue
• Skin plaque
• Macrocheilia
• Skin bumps
• Skin nodules
• Mental retardation
• Indurated skin plaque

Causes

It is caused by a mutation in the extracellular matrix protein 1 gene, ECM1; but unlike the dermatological symptoms it is caused by a build up of a hyaline material in the dermis and thickening of the basement membranes in the skin, it is seen on the eyelids where beaded papules developed.  Some people may just be carriers of the disease and show no symptoms.

Diagnosis

It may be diagnosed by the dermatological manifestation, especially the noticeable beaded papules on the eyelids, staining of hyaline and testing the antibodies for EMC1.

Treatment

Unfortunately there is no cure but many of the symptoms may be treatable by using oral dimethyl sulfoxide, intralesional heparin, etretinate, anti-seizure medication, and having a tracheostomy if needed.

Prognosis

Patients with this form of disease may have longevity as long as their symptoms are properly treated and cared for such as the thickening mucosa.  But will eventually require a tracheostomy or carbon dioxide laser surgery to keep the patient safe and comfortable. 

Meet the woman without fear……...