DEAR DR. DONOHUE: I was born with a mild case of osteogenesis imperfecta and have had at least 32 broken bones in my 68 years of life. One time, when I went to the emergency room, a 2-month-old baby was there who had had 20 broken bones already. When I was young, this was called brittle bone disease. If a child had so many broken bones, it was taken from the parents, who were accused of child abuse. Please explain this disease and how common it is. — L.C.
ANSWER: Osteogenesis imperfecta, OI, is still called brittle bone disease. It’s an inherited condition where the problem lies in collagen formation. Collagen is the stuff the body uses for support. It is the reinforcing material for all body structures, including bone. The defective collagen leads to weak bones that break easily.
There are eight different varieties of OI. Some are so mild that people pass into adulthood without ever having been diagnosed. At the other extreme, one kind of OI is lethal in early childhood. Some forms of the illness impart a blue tinge to the whites of the eyes, and some lead to early deafness.
OI affects all races. It’s inherited as an autosomal dominant trait. That means only one gene from either parent can transfer it to children. Half the children of an affected parent will have the disorder. It occurs in one in every 20,000 births.
You’re right about infants coming to the ER with multiple fractures being treated as though they were battered babies. Mistakes like this can disrupt a family until the correct diagnosis is made. OI, thankfully, is recognized more often today than it was in the past.
Physical rehabilitation and sometimes the administration of growth hormone or bisphosphonates (medicines used for osteoporosis) can build stronger bones and help OI children attain greater height.
Are you aware of the Osteogenesis Imperfecta Foundation? The foundation provides information in depth and teaches patients what is available for them. Contact it at 800-981-2663 or on the Internet at www.oif.org.
DEAR DR. DONOHUE: My son, 57 years old, all of a sudden developed loss of pigment from areas of skin on his face. What caused this? Nobody in our family ever had it. What is the best treatment? — A.V.
ANSWER: My guess is that it’s vitiligo. Melanocytes — cells containing the pigment melanin — impart skin color to people of all races. Vitiligo is a loss of those pigment cells. The result is patches of white skin. It’s something that happens to 1 percent of the population of all countries throughout the world, and half of them experience it before they turn 20.
The immune system is at fault. It attacks melanocytes. Why it does so is an unanswered question. Sometimes vitiligo is seen with other autoimmune diseases, like thyroid problems, diabetes, adrenal gland failure (Addison’s disease) and pernicious anemia.
Treatments exist. One is to camouflage the depigmented patches with cosmetics. Or doctors can try to coax melanocytes to return to the vitiligo patches by applying cortisone creams or ointments to the involved skin. Another drug, methoxypsoralen, can be spread on the vitiligo skin and then the patient is exposed to ultraviolet A light to restore pigmentation. Oral psoralen drugs can be taken, with subsequent exposure to ultraviolet A light or narrow-band ultraviolet B light.
Your son will find helpful information at the National Vitiligo Foundation’s Web site, www.nvfi.org.
DEAR DR. DONOHUE: Twenty-five years ago, I had a painful heel spur. My mother read an article that said to stand on a bottom step, supported by your toes on the step, and let your weight pull your heels downward. This exercise worked for me after I did it a number of times during the day. And the pain has never come back. — A.K.
ANSWER: The heel pain most often comes not from the heel spur, but from inflammation of the plantar fascia, which attaches to the heel. Your exercise stretches the heel cord (Achilles’ tendon), which connects the heel to the calf muscle. Stretching that tendon takes tension off the plantar fascia and eases heel pain.
Dr. Donohue regrets that he is unable to answer individual letters, but he will incorporate them in his column whenever possible. Readers may write him or request an order form of available health newsletters at P.O. Box 536475, Orlando, FL 32853-6475. Readers may also order health newsletters from www.rbmamall.com.