Scleroderma

Elizabeth Lombard has Scleroderma.

The disease, which has no cure, has long confounded South Boston, where a cluster of longtime residents from the City Point section - most of them middle-aged women - were falling ill with it. The residents, who lived near a power plant and hazardous waste sites, believed they were victims of their environment.

Their case gained national media attention and sparked an 11-year investigation by the Massachusetts Department of Public Health. In their findings, released earlier this month, state researchers acknowledged “higher than expected cases’’ of Scleroderma in South Boston, a neighborhood of roughly 30,000 people.

But it determined that genetics, not the environment, played a significant role.

“It’s not necessarily that the community they were living in was producing this disease,’’ said Robert Simms, the chief of rheumatology at Boston Medical Center and a researcher in the study. “When you look at the data, it does not support that.’’

Researchers also said low participation in the $1.75 million study may have limited their ability to find an environmental link.

Without a large enough sample, Simms said, it was difficult for scientists to gather reliable estimates on Scleroderma’s link to the residents’ proximity to toxic wastes and other pollutants.

“Those are the things the South Boston study tried to do and came up short,’’ said Simms, who added that the study now opens the door for much larger, national research.

The study found that people with a family history of specific autoimmune-rheumatic diseases, such as rheumatoid arthritis, Raynaud’s disease, lupus, and thyroid disease, were more likely to develop Scleroderma.

For the women afflicted with the disfiguring disease, the findings have come as a bitter disappointment.

“I thought that if we had an answer then we could fix it,’’ said Lombard, whose eyebrows have fallen out and whose face is tight and covered with red blotches. “It would help us make sense of why so many of my neighbors have this horrible disease.’’

In the study, researchers collected information about participants’ residential, occupational, and family medical histories. They checked for possible exposures to pollution, including hazardous waste sites and a Coastal Oil refinery.

Researchers tried to recruit large numbers of people for the study, but ended up with 41 people who have the disease and 219 randomly selected individuals who did not have it.

Such a small sample, though it suggested no link to the environment, was not large enough to draw hard conclusions, Simms said.

“The trouble is that science isn’t perfect,’’ said Simms. “It can’t always give the emotional validation that they are seeking.’’

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