News

Physicians in Canada have reported the case of report of a 4-year-old boy whose delayed — and severe —reaction to sunlight led to a diagnosis of erythropoietic protoporphyria (EPP). The case was described in the study “Delayed photosensitivity in a child with erythropoietic protoporphyria: a case…

Medical researchers in India have reported an unusual case of coexisting acute intermittent porphyria (AIP) and a genetic skin disorder in a 9-year-old boy. The rare clinical case was described in the study, “A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy,”…

Researchers at the University of Alberta in Canada reported a case of porphyria cutanea tarda that presented with rare symptoms, such as skin scarring, loss of pigmentation, and hair loss. The case report, “Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo,” was published in…

Most acute intermittent porphyria patients spoke in a small study of experiencing chronic symptoms in addition to acute attacks, and felt they significantly affected their ability to go about many activities that make up daily life. The study, “Patient Perspective on Acute Intermittent Porphyria with Frequent Attacks: A Disease…

A newly identified mutation in the HMBS gene was found to be linked to acute intermittent porphyria in a patient in China. The case report,  “Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type…

Patients with acute intermittent porphyria (AIP) have reduced quality of life, particularly physical health, a study has concluded. However, the authors also recommend focusing more attention on patients’ mental health. The study titled, “Acute Intermittent Porphyria in the North of China: The Acute Attack Effect on Quality of…

As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…

A brain imaging technique called SPET/CT effectively detects mild-to-moderate blood flow defects in patients with congenital erythropieetic porphyria (CEP) and may be superior to  magnetic resonance imaging (MRI) scans, a case study reports. The research, “Brain perfusion defects by SPET/CTand neurostat semiquantitative analysis in two patients with congenital…

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…

Chronic, undiagnosed skin symptoms may precede liver disease in erythropoietic protoporphyria (EPP), the most common type of porphyria in children, a case study reports. The study, “Erythropoietic Protoporphyria: Initial Diagnosis With Cholestatic Liver Disease,” appeared in the journal Pediatrics. EPP patients typically have skin manifestations in…