This inherited condition involves the skin, nails, and hair.
The skin, especially in the palms and soles, is rough and scaly and is more darkly pigmented that in other areas. Scalp and body hair is sparse but some individuals have ‘woolly’ hair. The eyebrows and eyelashes are also sparse. The nails may appear white. The toes can appear distorted and somewhat rotated. The ends of the toes can be somewhat enlarged. The skin changes may be more apparent in older individuals suggesting some progression.
This is an autosomal recessive condition as the result of a recessive mutation. That is, both copies of a mutated gene are required for the signs to appear. Carrier parents with only one mutation are clinically normal but they can expect that 25% of their children will be affected.
The diagnosis is most likely to be made by a pediatrician or dermatologist. There are no systemic abnormalities in other organs and individuals are expected to have a normal life expectancy. No treatment has been reported.