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Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia.
- Source :
-
The Journal of dermatology [J Dermatol] 2016 Nov; Vol. 43 (11), pp. 1340-1344. Date of Electronic Publication: 2016 Jul 12. - Publication Year :
- 2016
-
Abstract
- Sitosterolemia is a very rare autosomal recessive lipoprotein metabolic disorder caused by homozygous or compound heterozygous mutations in one of the two adenosine triphosphate-binding cassette transporter genes, ABCG5 and ABCG8. Sitosterolemia is clinically characterized by xanthomas and atherosclerosis, arthritis, fever, hemolysis and macrothrombocytopenia even in early childhood. We described a 16-month-old girl, who had numerous yellowish-brown intertriginous xanthomas along the skin creases on the extremities with severe hypercholesterolemia and elevated plant sterol levels. Histopathologically, xanthoma showed aggregation of foam cells in the dermis with a zone of mucin deposits in the dermal papilla. Electron microscopy showed numerous membrane-bound lipid droplets and multivesicular lipid bodies in the foam cells, a round cell containing lipid droplets in the basal cell layer and abundant mucin deposits just beneath the basal lamina. Diagnosis of sitosterolemia was confirmed by DNA sequencing showing compound heterozygosity for previously reported missense mutations in exon 9 of ABCG5. Infants presenting with multiple xanthomas should be investigated for sitosterolemia, if there is no family history of dyslipidemia.<br /> (© 2016 Japanese Dermatological Association.)
- Subjects :
- Female
Humans
Hypercholesterolemia complications
Hypercholesterolemia pathology
Infant
Intestinal Diseases complications
Intestinal Diseases pathology
Lipid Metabolism, Inborn Errors complications
Lipid Metabolism, Inborn Errors pathology
Skin pathology
Xanthomatosis pathology
Hypercholesterolemia diagnosis
Intestinal Diseases diagnosis
Lipid Metabolism, Inborn Errors diagnosis
Phytosterols adverse effects
Skin ultrastructure
Xanthomatosis etiology
Subjects
Details
- Language :
- English
- ISSN :
- 1346-8138
- Volume :
- 43
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- The Journal of dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 27401767
- Full Text :
- https://doi.org/10.1111/1346-8138.13511