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: unknown
