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Causes found for stiff skin conditions

A study by Johns Hopkins Medicine reveals that a rare inherited disorder called stiff skin syndrome shares genetic similarities with the debilitating condition scleroderma, affecting about one in 5,000 people. The findings suggest a potential treatment strategy involving the protein fibrillin-1 and its role in regulating TGFbeta activity.

SourceJohns Hopkins Medicine·JournalScience Translational Medicine·DateMar 19, 2010

Researchers ID traits of people with rare accelerated aging syndrome

Researchers at UT Southwestern Medical Center have identified distinct traits in patients with atypical progeroid syndrome (APS), a rare premature aging disorder. The study found that APS patients exhibit unique clinical features, metabolic abnormalities, and delayed onset of symptoms, potentially explaining their longer lifespan.

SourceUT Southwestern Medical Center·JournalThe Journal of Clinical Endocrinology & Metabolism·DateDec 15, 2009

Researchers discover gene for branchio-oculo-facial syndrome

A collaborative effort by Boston University researchers has discovered the TFAP2A gene is linked to Branchio-Oculo-Facial syndrome (BOFS), a disorder marked by clefting, skin anomalies, and eye abnormalities. The study's findings may lead to more precise diagnostic testing and suggest new research directions.

SourceBoston University·JournalAmerican Journal of Human Genetics·DateApr 23, 2008

Lymphoma drug used to treat skin disorders

A study published in Dermatologic Therapy reveals that rituximab effectively treats blistering skin diseases, including paraneoplastic pemphigus, by targeting abnormal immune responses. The drug's efficacy is being explored for other serious dermatological disorders, but its indications are still being defined.

SourceBlackwell Publishing Ltd.·JournalDermatologic Therapy·DateDec 14, 2007

The skinny on diagnosing skin disease

Researchers have developed an antigen-specific ELISA test to diagnose lichen sclerosus by detecting circulating autoantibodies to extracellular matrix protein 1. This breakthrough diagnostic tool has the potential to improve disease management and treatment outcomes.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateJun 1, 2004

JCI table of contents, 1 June 2004

A new study suggests that using stents to open blocked blood vessels in branching passages can lead to a harmful blood flow pattern, resulting in rapid re-occlusion of the main branch. This contradicts previous findings that suggest stenting was more successful in non-bifurcated areas.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateJun 1, 2004

Detective Work Uncovers New Tick-Borne Disease In North Carolina And The Southeast

Researchers have identified a new tick-borne disease in North Carolina and the Southeast that is distinct from Lyme disease. The disease, caused by an unknown organism, produces symptoms similar to ehrlichiosis but without a telltale rash. Investigation led by Dr. Kathryn Kirkland suggests the infection can be cured with antibiotics.

SourceDuke University Medical Center·JournalArchives of Internal Medicine·DateJan 22, 1998