Hypotrichosis 8 / Autosomal Recessive Woolly Hair 1 (LPAR6)

Hypotrichosis 8 and autosomal recessive woolly hair 1 are autosomal recessive disorders caused by pathogenic variants in the gene LPAR6. The age of onset of these disorders is typically in infancy. Individuals with hypotrichosis have sparse to absent eyelashes and eyebrow hair; over time, hair loss may progress to complete scalp hair loss and decreased body hair (alopecia). Rarely individuals may also have skin problems affecting areas with sparse or absent hair, such as redness, itchiness, or missing patches of skin. Patients may have hair that is coarse, dry, easily broken, and tightly curled (woolly), and scalp hair may also be lighter in color than expected. Life expectancy is expected to be normal. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):