But in this particular case, the problem could be diagnosed. Dalia’s skin breakdown was due to Gianotti-Crosti syndrome, a rare skin disease. (In Italy, where it best known, there were only 300 cases over 40 years). It causes large, fluid-filled blisters. Specialists don’t know what causes it, but they suspect it is the body reacting to a prior virus.
Happily, there are medications to treat Gianotti-Crosti, and they helped Dalia. But a diagnosis for her other symptoms continued to elude the doctors, despite their diligent efforts. They sent her to one specialist after another, with no solution. Finally, they decided to try rheumatology, and they sent Dalia to Connecticut Children’s. And here, as so often happens, our specialists were able to solve the problem that seemed unsolvable.
Dalia was examined by Barbara Edelheit, MD, the Division Head of Rheumatology, who said that Dalia was suffering from dermatomyositis. This is an extremely rare inflammatory disease that affects skin and muscles—it affects only three in one million children.
Dr. Edelheit started Dalia on a high dose of prednisone and, a week later, added methotrexate, a drug used in chemotherapy for cancer, used here in a lower dose. With those treatments, Dalia’s symptoms started to recede. Dr. Edelheit also did a blood test that showed Dalia was positive for an antibody called MDA 5. “It made me nervous that she might have lung disease,” she says, “so I sent her to one of our pulmonologists, Dr. Lapin.” Dermatomyositis can affect many parts of the body, and lung scarring is an uncommon but potentially devastating effect of the disease. It restricts the amount of air the lungs can hold and can be very serious. The presence of MDA 5 antibodies is an indication that the child is susceptible to that kind of damage. Dr. Lapin (Craig Lapin, MD) conducted pulmonary function tests and did a CT scan of Dalia’s chest and found that she did not yet have any damage. But he still followed her closely for some time, to be sure it doesn’t develop later—dermatomyositis is a lifelong condition.
Dalia initially visited Dr. Edelheit in December 2017. By the following April, her symptoms had significantly improved, and Dr. Edelheit reduced the dose of prednisone. By October, Dalia had no complaints of weakness or rash at all and no longer needed the prednisone but stayed on a weekly dose of methotrexate. Even better, repeated blood tests showed that the MDA 5 antibodies were no longer showing up. She was considered in remission on medication. When she was still doing well in December 2019, two years after first coming to Connecticut Children’s, Dr. Edelheit tapered off the methotrexate, and Dalia has been in remission off medication ever since.
Today, Dalia is 10 and doing very well. She likes playing with her friends and going to summer camp, but her main love is drawing. She still sees Dr. Edelheit, but the visits are becoming less frequent. She just switched from going for bloodwork and checkups every three months to every six months. That will eventually shift to annual visits and finally to no more specialist checkups. For a child who was so seriously affected by this disease, that’s a miraculous prospect.