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Ichthyosis and Neutral Lipid Storage Disease (Dorfman‐Chanarin Syndrome)
Author(s) -
Venencie Pierre Y.,
Armengaud Didier,
Foldes Christine,
Vieillefond Annick,
Coulombel Laure,
Hadchouel Michele
Publication year - 1988
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.1525-1470.1988.tb01165.x
Subject(s) - ichthyosis , vacuole , medicine , hyperkeratosis , pathology , epidermis (zoology) , dermatology , cytoplasm , biology , anatomy , biochemistry
Ichthyosis and neutral lipid storage disease ( INLSD ) is a nonlyso‐somal. multisystemic. triglyceride storage disorder. It is characterized by non‐bullous congenital ichthyosiform erythroderma ( NBCIE ), leukocyte vacuoles, and variable involvement of the liver, muscles, eyes, and central nervous system. In our patient fat‐containing vacuoles were also demonstrated in the epidermis. In patients with NBCIB , the diagnosis of INLSD is readily made by direct examination of a peripheral blood smear demonstrating cytoplasmic lipid vacuoles within most granulocytes and monocytes.