Dorfman-Chanarin syndrome; triglyceride storage disease with impaired long-chain fatty acid oxidation; neutral-lipid-storage disease with ichthyosis

Epidemiology

rare

Pathology

• intracellular accumulation of triacylglycerol droplets in many types of tissues
• liver steatosis with hepatomegaly (variable)

Genetics

• autosomal recessive
• associated with defects in ABHD5 gene

Clinical manifestations

• non-bullous congenital ichtyosiform erythroderma
• phenotype involves multiple organs and systems
• ichthyosis is always present
• variably present
  • muscle weakness (or myopathy)
  • ataxia
  • neurosensory hearing loss
  • subcapsular cataracts
  • nystagmus, strabismus
  • mental retardation

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis
• syndrome

Database

• OMIM: https://mirror.omim.org/entry/275630