Case: Birth Control Implant Leads to Variegate Porphyria in 18-year-old

Patricia Inácio, PhD avatar

by Patricia Inácio, PhD |

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An 18-year-old woman developed skin lesions associated with variegate porphyria (VP) — a type of acute porphyria — after having a progesterone birth control device called Nexplanon implanted under her skin.

According to the researchers, this is the first reported case of variegate porphyria triggered by a progesterone-release birth control implant.

Notably, the woman’s lesions decreased in size once she had the implant removed.

“Over the ensuing month, she reported substantial improvement in her cutaneous [skin] symptoms,” the team wrote.

The report, “A case report on variegate porphyria after etonogestrel placement,” was published in the journal JAAD Case Reports.

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Variegate porphyria is caused by mutations in the PPOX gene that provides instructions for making an enzyme called protoporphyrinogen oxidase. This enzyme is involved in the production of heme, a molecule that is essential for oxygen transport in the body.

People with VP have lower enzyme activity, leading to the toxic buildup of porphyrin precursors. Typical symptoms include blisters on sun-exposed skin, abdominal pain, seizures, and muscle weakness.

Here, a research team from the University of Michigan described the case of a young woman who developed variegate porphyria after being implanted with Nexplanon, a progesterone-release birth control device that is normally placed under the skin.

The patient, who had an uneventful medical history, was treated for several red bumps (papule) on the backs of her hands, as well as painful itching lesions on the face that had been present for a month.

She was initially diagnosed with impetigo, a common skin infection, and was prescribed a topical antibiotic, called mupirocin (sold under the brand name Bactroban, among others).

While her lesions eased with treatment over the following month, new sores appeared on her face, along with crusting on her eyelids. One month later, she still had skin lesions on her hands and nasal bridge.

The persistence of symptoms led clinicians to suspect porphyria. At that point, they became aware that a Nexplanon implant had been performed four months prior to the onset of the woman’s symptoms.

Subsequent tests confirmed the diagnosis of variegate porphyria, including several showing the patient had elevated levels of porphyrins in her urine, blood, and stool.

Genetic testing revealed the presence of a genetic mutation in the PPOX gene. She reporting having none of the other symptoms of acute porphyria, such as abdominal pain, nausea, or confusion.

The timeline of her symptoms suggested that the Nexplanon implant was likely the trigger for her symptoms. The researchers noted that sex hormones, particularly progesterone, can induce the generation of heme and lead to porphyria symptoms in women.

The implant was removed and the patient experienced improvements over the next month. She reported a marked easing of her skin blisters, with a reduction in size and minimal crusting. A cream composed of 10% of azelaic acid lessened signs of skin inflammation.

According to researchers, “this is the first report of cutaneous [variegate porphyria] triggered by progesterone-only Nexplanon implantation.”