Tofacitinib eases itching in man with DEB pruriginosa

Case report describes how the anti-inflammatory med also reduced skin lesions

Margarida Maia, PhD avatar

by Margarida Maia, PhD |

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A person's right hand is seen in a close-up view scratching a rash on the left forearm.

Tofacitinib, an oral anti-inflammatory medication, eased itching and reduced skin lesions in a young man with dystrophic epidermolysis bullosa (DEB) pruriginosa caused by two newly identified mutations, according to a report from China.

The report, “Novel compound heterozygous mutations of the COL7A1 gene in a Chinese patient with recessive dystrophic epidermolysis bullosa pruriginosa and digestive symptoms successfully treated with tofacitinib,” was published as a letter in the Journal of Dermatology.

Epidermolysis bullosa causes the skin to become fragile and blister easily in response to minor injury or friction, such as rubbing or scratching. In DEB, this is caused by mutations in COL7A1, a gene that provides instructions to produce part of a protein that helps to bind layers of skin together.

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A person's right hand is seen in a close-up view scratching a rash on the left forearm.

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A team of researchers in China reported using tofacitinib to treat a 27-year-old man with DEB pruriginosa, a rare form of DEB characterized by thickening and small bumps in the skin, as well as intense pruritus (itching) that can affect quality of life.

Tofacitinib, marketed as Xeljanz by Pfizer, is approved in the U.S., Europe, and elsewhere for a range of diseases that involve inflammation of the joints,  and for some adults with ulcerative colitis, a disease that causes ulcers (open sores) in the lining of the gut.

The medication works against inflammation by inhibiting the action of enzymes called Janus kinases. Reports indicate that Janus kinases also play a role in itching and that Janus kinase inhibitors may result in rapid relief.

The man had reddening of the skin and friction-induced blisters on his body since birth. He also had been experiencing intense itching, dysphagia (difficulty swallowing), and odynophagia (pain when swallowing) since he was 7 years old.

Patient’s esophagus dilated

At age 26, the man visited the hospital due to worsening dysphagia. An examination revealed his esophagus (the tube that carries food to the stomach) was too narrow. Endoscopic esophageal dilatation, a procedure to widen the esophagus, eased his dysphagia.

Genetic testing revealed two yet-unreported mutations, called c.4980+2T>G and c.4198-1G>A, in the COL7A1 gene. Both were predicted to affect splicing, the process by which parts of the genetic information are cut and joined together when producing a protein.

Based on these findings, the doctors made a diagnosis of DEB pruriginosa.

However, a few months later, the man went back to the hospital due to worsening itching, which prevented him from sleeping. Dysphagia and odynophagia also had worsened. An exam revealed an ulcer in the lining of his throat.

The man was started on 5 milligrams of tofacitinib twice daily. As early as within four weeks, the man reported a marked reduction not only in itching, but also in skin lesions.

No side effects reported

On his latest visit, after 28 weeks of treatment (nearly 6.5 months), the man’s condition was stable. He had no open sores in the lining of the esophagus or throat, and he reported no side effects from tofacitinib.

“The patient experienced significant relief of pruritus and also did not experience odynophagia (experienced two or three times a month before treatment) during the 28-week treatment period of tofacitinib,” the researchers wrote.

Tofacitinib and other medications for itching “may provide an option for patients with epidermolysis bullosa to get maximum clinical benefits. More studies should be performed to verify this finding,” the researchers concluded.