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Variegate porphyria.

Kamaldeep Sandhu1, Bhushan Kumar

  • 1Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

The Journal of Dermatology
|June 10, 2004
PubMed
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Variegate porphyria, a rare genetic liver disorder, presents with acute systemic and skin symptoms. This case highlights a young Indian female diagnosed with this complex condition.

Area of Science:

  • Biochemistry
  • Genetics
  • Hepatology

Background:

  • Variegate porphyria (VP) is an inherited disorder of heme biosynthesis.
  • It is characterized by a combination of acute neurovisceral attacks and cutaneous photosensitivity.
  • VP is caused by mutations in the protoporphyrinogen oxidase (PPOX) gene.

Observation:

  • A 22-year-old female patient from India presented with acute symptoms suggestive of hepatic porphyria.
  • Clinical presentation included neurological and abdominal manifestations.
  • Cutaneous symptoms were also noted, mimicking porphyria cutanea tarda.

Findings:

  • Diagnostic investigations confirmed the presence of variegate porphyria.
  • The patient's genetic profile indicated a mutation consistent with VP.

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  • This case represents a rare occurrence of VP in the described demographic.

    • Implications:

    • Early diagnosis and management of variegate porphyria are crucial to prevent severe complications.
    • Understanding the diverse clinical presentations of VP is important for healthcare providers.
    • This case contributes to the literature on variegate porphyria, particularly in the Indian subcontinent.