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Neutral lipid storage disease. Case report and lipid studies
M R Judge1, D J Atherton, R Salvayre
1Hospital for Sick Children, London, U.K.
The British Journal of Dermatology
|April 1, 1994
Summary
A boy with ichthyosis also showed liver and muscle issues, cataracts, and lipid vacuoles. Lipid studies confirmed neutral lipid storage disease, a rare genetic disorder.
Area of Science:
- Genetics
- Biochemistry
- Dermatology
Background:
- Non-bullous ichthyosiform erythroderma is a rare genetic skin disorder.
- Ichthyosis can be associated with systemic manifestations.
Observation:
- A 9-year-old boy presented with non-bullous ichthyosiform erythroderma, hepatomegaly, abnormal liver function, myopathy, and early cataracts.
- Lipid vacuoles were observed in white blood cells and basal keratinocytes.
Findings:
- Diagnosis of neutral lipid storage disease was confirmed.
- Lipid studies on cultured fibroblasts supported the diagnosis.
Implications:
- Highlights the importance of considering systemic involvement in ichthyosis.
- Emphasizes the role of lipid studies in diagnosing metabolic disorders.
- Contributes to understanding the clinical spectrum of neutral lipid storage disease.