[Porphyria variegata--the first case in Norway]

Area of Science:

• Biochemistry
• Genetics
• Dermatology

Background:

• Porphyrias are a group of genetic disorders affecting heme biosynthesis.
• Acute intermittent porphyria and porphyria cutanea tarda are prevalent in Norway.
• Porphyria variegata is a rare form characterized by skin and/or abdominal symptoms.

Observation:

• This study reports the first documented case of porphyria variegata in Norway.
• The patient presented with cutaneous manifestations and no abdominal pain.
• Family evaluation revealed two additional individuals with suspected latent porphyria variegata.

Findings:

• Porphyria variegata diagnosis is confirmed by elevated fecal porphyrin levels.
• Clinical presentation can vary, with skin symptoms being prominent.
• Latent cases may exist within affected families.

Implications:

• Highlights the importance of considering porphyria variegata in differential diagnoses for skin conditions.
• Emphasizes the need for comprehensive family screening in suspected cases.
• Underscores the diagnostic value of fecal porphyrin testing for porphyria variegata.