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Phakomatosis pigmentovascularis IIb with renal anomaly
Abstract:
Phakomatosis pigmentovascularis (PPV) is a rare congenital naevoid syndrome; most case reports originate in Japan. The major clinical manifestations consist of coexisting extensive naevus flammeus and pigmentary naevus with or without systemic involvement. We report an 8-year-old Taiwanese boy, who was born with extensive naevus flammeus and other anomalies comprising persistent aberrant Mongolian spot-like pigmentary patches, leg-length discrepancy, pelvic obliquity, scoliosis and bilateral melanosis oculi bulbi. Further investigation also revealed agenesis of the right kidney. The cutaneous lesions remained unchanged over a 3-year follow-up period. Within the classification of PPV, this boy's disorder represents an example of PPV IIb. Right kidney agenesis, which has never been observed in PPV, may be an incidental finding.
Insights
Phakomatosis pigmentovascularis (PPV) is a rare congenital syndrome. This case report details a Taiwanese boy with PPV IIb, presenting unique anomalies including kidney agenesis.
Area of Science:
- Medical Genetics
- Dermatology
- Pediatrics
Background:
- Phakomatosis pigmentovascularis (PPV) is a rare congenital disorder characterized by the co-occurrence of naevus flammeus and pigmentary naevi.
- Most reported cases of PPV originate from Japan, highlighting potential geographic variations in presentation.
- Understanding PPV's diverse clinical spectrum is crucial for accurate diagnosis and management.
Observation:
- An 8-year-old Taiwanese boy presented with extensive naevus flammeus and aberrant Mongolian spot-like patches.
- Associated anomalies included leg-length discrepancy, pelvic obliquity, scoliosis, bilateral melanosis oculi bulbi, and notably, agenesis of the right kidney.
- Cutaneous lesions demonstrated stability over a 3-year follow-up period.
Findings:
- The patient's clinical presentation was classified as Phakomatosis pigmentovascularis type IIb (PPV IIb).
- The co-occurrence of PPV and renal agenesis is a novel finding, not previously documented in existing literature.
- The observed anomalies suggest a complex syndromic presentation beyond typical PPV manifestations.
Implications:
- This case expands the known clinical spectrum of Phakomatosis pigmentovascularis, particularly type IIb.
- The association with renal agenesis warrants further investigation into potential shared etiological factors or a broader spectrum of systemic involvement in PPV.
- Highlights the importance of comprehensive evaluation in congenital naevoid syndromes to identify potentially incidental or associated anomalies.