Other names: Dorfman-Chanarin syndrome

OMIM: 275630

Inheritance: autosomal recessive

Incidence: very rare

Key findings:

• skin: small, tightly adherent scales and thickening of the epidermis give the appearance of increased skin markings or ridges, especially near body folds; mild erythroderma and eversion of eyelids (ectropion); itching

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

• eyes: cataracts and other visual disturbances
• ears: hearing loss
• neuromuscular: intelligence usually normal; weakness can be progressive
• liver: large
• intestine: malabsorption (rare)

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

Clinicians seeking to confirm a diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis.

Learn more about FIRST's Regional Support Network -  connecting affected individuals and families with each other. Or call the FIRST office at 800.545.3286.

This information is provided as a service to patients and parents of patients who have ichthyosis.  It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents.  Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors nor Foundation staff and officials endorse any treatments or products reported here.  All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.