Dorfman-chanarin syndrome G60.1

Dorfman, 1974

Rare, congenital, autosomal recessive storage disease, with abnormal storage (lipid droplets) of triglycerides (triacylglycerol) in leukocytes, muscles, liver, fibroblasts, and in keratinocytes and epidermal Langerhans cells. The disease is constantly associated with ichthyosis, which is clinically similar to ichthyosis vulgaris.

<1:1,000,000; about 60 cases have been published worldwide. Preferably the cases occurred in the Mediterranean region; individual cases originate from India, Saudi Arabia, Japan

Enzyme defect caused by (nonsense, splice, frameshift) mutations of a gene of the esterase lipase thioesterase subfamily (ABHD5 gene) located on chromosome 3p21. This enzyme defect leads to an accumulation of lipids in numerous tissues. Thus, lipid vacuoles can also be detected in skin biopsies, in peripheral blood smears (granuloids and monocytes).

Congenital fine-lamellar (not bullous) ichthyosis. Some children are born as collodion babies. The changes of the skin are monitor signs of the underlying genetic defect. Early hepatomegaly (70% of patients) with the risk of portal hepatopathy and general developmental disorders of the children is constantly pronounced. In adulthood, cataracts occur (also in childhood in about 40% of patients), inner ear deafness (25%); neurological disorders such as myopathies and ataxias manifest themselves late.

The ichthyotic changes respond well to retinoids.

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