Stories about: skin

Patients’ brain tissue unlocks the cellular hideout of Sturge-Weber’s gene mutation

A diagram of the skull and brain showing the leptomeninges, which is affected by Sturge-Weber syndrome
Sturge-Weber syndrome causes capillary malformations in the brain. They occur in the brain’s leptomeninges, which comprise the arachnoid mater and pia mater.

A person born with a port-wine birthmark on his or her face and eyelid(s) has an 8 to 15 percent chance of being diagnosed with Sturge-Weber syndrome. The rare disorder causes malformations in certain regions of the body’s capillaries (small blood vessels). Port-wine birthmarks appear on areas of the face affected by these capillary malformations.

Aside from the visible symptoms of Sturge-Weber, there are also some more subtle and worrisome ones. Sturge-Weber syndrome can be detected by magnetic resonance imaging (MRI). Such images can reveal a telltale series of malformed capillaries in regions of the brain. Brain capillary malformations can have potentially devastating neurological consequences, including epileptic seizures.

Frustratingly, since doctors first described Sturge-Weber syndrome over 100 years ago, the relationship between brain capillary malformations and seizures has remained somewhat unexplained. In 2013, a Johns Hopkins University team found a GNAQ R183Q gene mutation in about 90 percent of sampled Sturge-Weber patients. However, the mutation’s effect on particular cells and its relationship to seizures still remained unknown.

But recently, some new light has been shed on the mystery. At Boston Children’s Hospital, Sturge-Weber patients donated their brain tissue to research after it was removed during a drastic surgery to treat severe epilepsy. An analysis of their tissue, funded by Boston Children’s Translational Neuroscience Center (TNC), has revealed the cellular location of the Sturge-Weber mutation. The discovery brings new hope of finding ways to improve the lives of those with the disorder.

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Poison ivy and psoriasis: The treatment we’ve been itching for?

poison ivy psoriasis target CD1a
Poison ivy, psoriasis, eczema and other inflammatory skin conditions could have a shared targeted treatment. (Jessica Kim/Winau Lab)

The skin is a natural barrier against pathogens and harmful chemicals. But it isn’t bulletproof: contact allergens like poison ivy can trigger an immune response causing severe inflammation, itching and tissue damage. Mechanistically, what happens is that Langerhans cells — certain antigen-presenting cells in the immune system — initiate a chain reaction. This rallies helper T cells to the area, causing skin inflammation.

A protein called CD1a (Cluster of Differentiation 1a) has been thought to be part of this reaction. But until recently, its role was poorly understood, at least in part because there was no good test model. Research in Nature Immunology now suggests that targeting CD1a could lead to new therapies for poison ivy and other inflammatory skin conditions like psoriasis and eczema.

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Give me some skin (or not)

GROWTH CONTROL: Under conditions of low cell density (top image), Yap1, shown in green, is concentrated in cell nuclei, where it turns on growth-promoting genes. Under conditions of cell crowding (bottom image), Yap1 is kept out of cell nuclei (black areas) and is unable to act. Instead it's spread throughout the cell cytoplasm.

Generating new skin for burn victims and treating skin cancer are two sides of the same coin, according to a new study, which also reveals an inborn “crowd control” mechanism that flips the coin. Healthy people have a switch that senses how tightly cells are packed in the “neighborhood,” and turns growth-promoting genes on or off as needed in epidermal (skin-forming) stem cells.

Fernando Camargo, a researcher in the Children’s Hospital Boston Stem Cell Program, has worked out how this switch works and why it’s stuck “on” in cancers like squamous cell carcinoma, the second most common skin cancer. That could be a fresh clue to treating these cancers.

And as Camargo’s team demonstrated in mice, tinkering with that same switch could grow new skin when it’s needed, to heal a burn or ulcer.

Camargo, born in Peru and named a Pew Scholar last year at the age of 33, has been interested in understanding what maintains organs at a specific size. How do our skin and kidneys and livers “know” when it’s time to stop growing?

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