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Do you know this syndrome? Berardinelli-Seip syndrome
Pedro Vale Machado1, Egon Luiz Rodrigues Daxbacher2, Daniel Lago Obadia2
1Pedro Ernesto University Hospital, Rio de Janeiro State University, Rio de JaneiroRJ, Brazil, Specialist in Dermatology. Postgraduate degree in Dermatology from the Pedro Ernesto University Hospital - Rio de Janeiro State University (HUPE-UERJ) - Rio de Janeiro (RJ), Brazil.
Anais Brasileiros De Dermatologia
|January 30, 2014
Summary
Berardinelli-Seip syndrome, a rare metabolic disorder, can cause severe hypertriglyceridemia. This case highlights eruptive xanthoma as a notable skin manifestation in affected individuals.
Area of Science:
- Endocrinology
- Genetics
- Dermatology
Background:
- Berardinelli-Seip syndrome is a rare autosomal recessive disorder impacting lipid metabolism and storage.
- Characterized by generalized lipoatrophy and severe insulin resistance leading to diabetes and dyslipidemia.
Observation:
- A 17-year-old patient with Berardinelli-Seip syndrome presented with eruptive xanthoma.
- This dermatological finding was associated with severe hypertriglyceridemia.
Findings:
- Eruptive xanthoma, a skin condition, can be a significant manifestation of Berardinelli-Seip syndrome.
- The case underscores the link between this genetic disorder and extreme lipid level abnormalities.
Implications:
- Highlights the importance of recognizing dermatological signs in rare genetic metabolic disorders.
- Suggests further investigation into the clinical presentation of Berardinelli-Seip syndrome, including its cutaneous manifestations.
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