Laryngo-oculo-cutaneous Syndrome (JEB)

Laryngo-oculo-cutaneous syndrome (LOC), or Shabbir’s syndrome, presents at birth with blistering and erosions that typically favors the head and neck. Nail dystrophy and granulation tissue commonly are observed, while milia and scarring are less common. LOC is predominantly reported in the state of Punjab, India. Oral erosions, dental enamel problems, dental caries, and ocular (eye) erosions and other complications are common. Laryngeal erosions and related complications are a key feature and may lead to airway obstruction and death. Growth retardation and anemia may occur, but problems with the intestines/gastrointestinal tract or genitourinary tract have not been reported. 

Junctional EB Inversa

JEB Inversa, is a late onset of JEB and Larygo-onycho-cutaneous syndrome are caused by mutations in the laminin-332 gene. It is presents at birth with blisters localized to intertriginous areas such as groin, neck and axillae. although Milia are not common, scarring and nail dystrophy frequently are observed. Oral blister my occur, and dental enamel Hypoplasis and dental caries may be more common. With the exception of  Pyloric atresia, which may occur, other systemic findings such as poor growth, anemia, and blistering and other problems involving the trachea/respiratory tract, genitourinary tract and eyes are not seen.

IT's A new year!

an Irish Blessing

It is a New Year and I'm back blogging again. I hope everyone has a Merry Christmas and a Happy New Year.






This Christmas season my EB has been good. Due to my acid reflex I got giving a elevated bed. With having a elevated bed I'm able to keep my head up more at night and that helps keeps my reflex down






This Christmas was one people will remember. A really bad ice storm hit Ontario which caused hydro outages for millions of people. Some did not get power back on for up to 9 days or more. Many didn't have it back in time for Christmas. My family was lucky was we didn't lose your hydro. The storm passing over us today has reached wind chill temperatures of -40 outside. I cannot remember a winter like this. This is to be expected I guess with Canadian weather.





I'm grateful that even with the weather my family had a great Christmas. Family was still able to visit and celebrate this special time of year with us.






Christmas is also a time of remembrance. It has been 3 years since my grandma went to heaven. When she passed away I read this really nice poem which still today helps me fell like she is hear. As I read it this year I thought of all the people who we have lost with EB in the past year. I have attached it to the end of my blog.






I wish everyone a Happy, Healthy and Safe New year of 2014. Please stay tuned for updates about EB and about myself.






Christmas In Heaven


by Wanda Bencke





I see the countless Christmas trees around the world below With tiny lights,
like Heaven's stars, reflecting on the snow
The sight is so spectacular, please wipe away the tear
For I am spending Christmas with Jesus Christ this year.

I hear the many Christmas songs that people hold so dear

But the sounds of music can't compare with the Christmas choir up here.
I have no words to tell you, the joy their voices bring,

For it is beyond description, to hear the angels sing.

I know how much you miss me, I see the pain inside your heart
But I am not so far away, we really aren't apart.
So be happy for me, dear ones, you know I hold you dear.
And be glad I'm spending Christmas with Jesus Christ this year.
I sent you each a special gift, from my heavenly home above.
I sent you each a memory of my undying love.

After all, love is a gift more precious than pure gold

It was always most important in the stories Jesus told.

Please love and keep each other, as my Father said to do For

I can't count the blessing or love he has for each of you

So have a Merry Christmas and wipe away that tear

Remember, I am spending Christmas with Jesus Christ this year.