Variegated porphyria reported in girl with multiple underlying conditions

A report describes a case of variegate porphyria, a type of acute porphyria, in a 9-year-old girl who had several underlying medical conditions, including a severe form of epilepsy.

The researchers noted that while variegata porphyria is not commonly seen in children, when it is, it is “associated with more severe neuropsychiatric findings compared to adult disease.”

The report, “A 9-year-old girl with blisters on her hands and face: an early presentation of porphyria variegata,” was published in Pediatric dermatology.

Variegated porphyria is caused by mutations in the PPOX gene, which contains instructions for making an enzyme called protoporphyrinogen oxidase which is involved in the production of heme, a key molecule needed to transport oxygen in the body.

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People with variegate porphyria have a dysfunctional enzyme that leads to porphyrin precursors building up to toxic levels in the body over time. Typical symptoms include blisters on sun-exposed skin areas, abdominal pain, seizures, and muscle weakness.

Most cases have been reported in older children, adolescents and adults. Here, a research team from Virginia Commonwealth University described the case of a young girl with the condition.

The girl, from El Salvador, was brought to the dermatology clinic due to vesicular sores strewn across her face. Her medical history included premature birth at 29 weeks, developmental delay and cerebral palsy which affected both arms and both legs. She also suffered from Lennox-Gastaut syndrome, a severe form of epilepsy that was not properly controlled by medication.

The blisters began to appear a year earlier, with the first lesions appearing on her face, particularly where surgical tape had been used in previous surgery. Her mother said she was biting her hands more frequently, with more sores developing in several places, including her face and hands. The girl’s feet had become red and swollen, and she suffered from chronic vomiting and constipation.

Previous interventions included immobilizing her arms to reduce rubbing and scratching and using topical medications. No improvement was seen and the cause of his lesions remained unknown, however.

A physical examination revealed several scars on his face and on the backs of his hands, the latter accompanied by tiny white bumps called milia.

A complete blood count showed slightly elevated levels of hemoglobin, the protein in red blood cells responsible for carrying oxygen, and hematocrit, the proportion of red blood cells in total blood volume, as well as some liver enzymes.

Tissue analyzes of two blisters showed signs of inflammation. Additionally, she had high levels of porphyrins in her blood and urine. Genetic testing revealed a mutation in the PPOX gene, confirming porphyria variegata.

The girl also had another mutation in the FECH gene, linked to erythropoietic protoporphyria. This gene carries instructions for making an enzyme called ferrochelatase which is also involved in the production of heme. However, since the mutation only affected one copy of the gene, she did not develop the disease.

His family was offered genetic testing, but declined. They were informed of the importance of sun protection to avoid triggering skin blisters.

At a follow-up visit a year later, the girl’s facial lesions worsened, but the blisters on her hands, arms and feet subsided because recommendations for sleeves and protective clothing sunscreen, broad-spectrum sunscreen, sun avoidance and careful wound care were followed.

Showing signs of cellulitis, a bacterial skin infection common in skin blisters, the girl was given a 10-day treatment with the antibiotic cephalexin, which resulted in modest improvements. A multidisciplinary team was put in place to carry out a close follow-up, given his complex clinical scenario.

“A multidisciplinary treatment strategy should be employed for optimal outcomes that addresses not only symptom management, but also the psychosocial impacts the disease may have on the patient and their family,” the researchers wrote, nothing in this case. “stresses the importance of considering porphyria in any blistering [skin conditions] and the importance of [tissue] analysis in diagnosis.

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