ArticleAdvances in laboratory medicine2025
Jordans' anomaly in Chanarin-Dorfman syndrome.
Article in Advances in laboratory medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objectives: Chanarin-Dorfman syndrome is a rare disease inherited in an autosomal recessive pattern whose prevalence does not exceed 130 cases worldwide. Case presentation: A 4-year-old patient with generalized erythematous-desquamative ichthyosiform syndrome since birth. The main laboratory finding was persistent hypertransaminasemia. Supplementary studies included peripheral blood smear (PBS), which revealed the presence of multiple cytoplasmatic vacuoles in polymorphonuclear leukocytes (PMN) and platelets. Ichthyosiform lesions concomitant to the presence of lipid vacuoles in peripheral blood PMNs are signs of Chanarin-Dorfman syndrome. Diagnostic suspicion was confirmed by genetic sequencing. Conclusions: Chanarin-Dorfman syndrome is characterized by a mutation in the
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