Jordans’ Anomaly in White Blood Cells

Abstract

Persistent vacuoles were seen in the protoplasm of granulocytes, monocytes and occasional lymphocytes of 2 sisters suffering from ichthyosis. In the bone marrow these vacuoles were found in the cytoplasm of promyelocytes, myelocytes, metamyelocytes and rarely in plasma cells. They were not observed in blasts or in red cells and thrombocytes and their precursors. With the help of cytochemical staining technics and fluorescence microscopy studies, it was determined that the vacuoles contained lipids. A similar abnormality of leukocytes was described previously by Jordans in 2 brothers suffering from muscular dystrophy. Ichthyosis was transmitted in this family in an autosomal recessive way.

Chanarin–Dorfman syndrome with eccrine gland vacuolation: a case report

“…In 1953, Jordan described two brothers with progressive muscular dystrophy whose leukocytes contained fatty vacuoles. 7 Similar leukocyte abnormalities (Jordan's anomaly) were reported by Rozenszajn et al . 7 in two sisters, who also suffered from ichthyosis.…”

Adipose triglyceride lipase acts on neutrophil lipid droplets to regulate substrate availability for lipid mediator synthesis

“…The disease was discovered initially in 1953 by Jordans [1], who reported a case of progressive muscular dystrophy accompanied by fat-containing vacuoles in leukocytes, which, since then, has been termed Jordans' anomaly. Lipidladen leukocytes were confirmed in further clinical reports of NLSD [2][3][4]. Given the consistent presence of Jordans' anomaly on an otherwise heterogeneous background of clinical phenotypes (e.g., variable degrees of ichthyosis, liver steatosis, hepatosplenomegaly, skeletal and cardiac myopathy, hearing loss, growth, and mental retardation) [5], Jordans' anomaly was proposed as hallmark criterion for the diagnosis of NLSD [6].…”

Ichthyosis and Neutral Lipid Storage Disease (Dorfman‐Chanarin Syndrome)

“…Cataracts were reported in six (1,2,(8)(9)(10), retinal dysfunction in three (1,2) and strabismus in two (8.9). A ncurosensory deafness was reported in eight patients (1,2,5,6,(8)(9)(10).…”

“…Ichthyosis and neutral lipid storage disease (INLSD) was first described in 1966 (1), in two sisters with fat-containing vacuoles in their leukocytes and "ichthyosiform erythroderma." To date, 13 cases of INLSD have been reported fl-IO).…”