Steven and Brenda had eagerly anticipated the birth of their first child, a boy named
Garth. The first year was joyous and Garth grew normally with no apparent problems
other than some trauma induced blistering of the skin.
By Garth’s third birthday, Brenda noticed that his nails showed some deformities. She
mentioned this to his pediatrician during his annual physical but since there were no
other problems, the physician decided to just watch the condition and to keep a record
of what Garth was doing.
At four, Garth exhibited thickening of the palms and soles of the feet and gradual loss of
the eyebrow hair. His lovely thick eyelashes were also becoming sparse. By age five,
hyperhidrosis over the nose and cheeks were observed.
Garth was referred to a dermatologist for follow up where he was determined to have a
genetic mutation in the plakophilin gene resulting in a condition known as epidermolysis
bullosa a form of ectodermal dysplasia.
- Describe the five different layers of the skin.
- Describe the four different cell junctions.
- What is the purpose of the plakophilin gene?
- How would mutations in the plakophilin gene disrupt cell to cell interactions?
- How would mutation in the plakophilin gene lead to hyperhidrosis
