Abstract | BACKGROUND: OBJECTIVE: To study whether a patient with DCS demonstrates TG accumulation in the epidermis and to analyze whether TG levels are correlated with skin disease activity. METHODS: Skin specimen from a 62-year-old man with DCS was stained with oil red O, and analyzed on electromicrographs. Sequencing analysis of CGI-58 was performed using the patient's blood cells. The scales from the lesion were subject to lipid analysis by high-performance thin-layer chromatography (HPTLC). RESULTS: The patient demonstrated ichthyoform erythroderma with a distinct seasonal fluctuation: his skin lesions were aggravated in summer but resolved during winter. Epidermis of the lesion showed intracellular lipid droplets. Sequencing analysis revealed a novel missense mutation in the exon 3 of CGI-58 gene. Lipid analysis of the scales from his lesions, compared with those from normal human control, revealed increased levels of triglycerides (TG) but, in turn, decreased levels of free fatty acids, suggesting dysfunction of adipose TG lipase. Notably, the TG levels in the scales from the patient were positively correlated with the severity of ichthyosis. CONCLUSION: These results suggest that TG accumulation by epidermal keratinocytes directly contributes to ichthyosiform phenotype of DCS.
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Authors | Mayumi Ujihara, Kimiko Nakajima, Mayuko Yamamoto, Mika Teraishi, Yoshikazu Uchida, Masashi Akiyama, Hiroshi Shimizu, Shigetoshi Sano |
Journal | Journal of dermatological science
(J Dermatol Sci)
Vol. 57
Issue 2
Pg. 102-7
(Feb 2010)
ISSN: 1873-569X [Electronic] Netherlands |
PMID | 20022472
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright 2009 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved. |
Chemical References |
- Lipids
- Triglycerides
- Isoleucine
- Threonine
- 1-Acylglycerol-3-Phosphate O-Acyltransferase
- ABHD5 protein, human
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Topics |
- 1-Acylglycerol-3-Phosphate O-Acyltransferase
(genetics)
- Amino Acid Substitution
- Asian People
(genetics)
- Base Sequence
- Epidermis
(metabolism, pathology)
- Exons
- Genes, Recessive
- Heterozygote
- Humans
- Ichthyosis, Lamellar
(genetics, metabolism, pathology)
- Isoleucine
- Lipid Metabolism, Inborn Errors
(genetics, metabolism, pathology)
- Lipids
(analysis)
- Male
- Microscopy, Electron
- Middle Aged
- Mutation, Missense
- Point Mutation
- Seasons
- Severity of Illness Index
- Skin
(chemistry)
- Threonine
- Triglycerides
(metabolism)
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