Neutral Lipid Storage Disease

Other names: Dorfman-Chanarin syndrome

OMIM: 275630

Inheritance: autosomal recessive

Incidence: very rare

Key findings:

Associated findings: the following are common but occur with varying severity

Age at first appearance: birth

Long-term course: may present with congenital ichthyosiform erythroderma or, rarely, collodian baby; skin changes generally stable after neonatal period; may improve on special diets

Diagnostic tests: lipid inclusions in cells on blood smear or skin biopsy

Abnormal gene: PNPLA2 gene, which encodes adipose triglyceride lipase

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