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Neutral Lipid Storage Disease with Unusual Presentation: Report of Three Cases
Author(s) -
Singh Smita,
Sharma Sunita,
Agarwal Shilpi,
Nangia Anita,
Chander Ram,
Varghese Bincey
Publication year - 2011
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2011.01429.x
Subject(s) - ichthyosis , medicine , basal (medicine) , skin biopsy , vacuolization , pathology , dyskeratosis , dermatology , biopsy , vacuole , hyperkeratosis , endocrinology , biology , cytoplasm , biochemistry , diabetes mellitus
Neutral lipid storage disease is a nonlysosomal multisystemic triglyceride storage disease. It is characterized by leukocyte vacuolization (Jordans’ anomaly), variable systemic involvement, and ichthyosis. Two of our patients presented with congenital ichthyosis. Lipid vacuoles were demonstrated in granulocytes and monocytes and in basal keratinocytes on skin biopsy. They were diagnosed as Chanarin Dorfman syndrome. In contrast to these cases, the third case presented with progressive symmetric erythrokeratoderma without ichthyosis. Lipid vacuoles were demonstrated in blood cells on peripheral smear and in basal keratinocytes. Only screening of peripheral smear led to the correct diagnosis.