This is a rare inherited skin disease for which no gene change has yet been found.
Young children often have exceptionally red cheeks and eyebrows and hair may be sparse. The eyebrows are thin and may have unusual redness as well. Eyelashes are sparse. Sensitivity to light can be a lifelong issue and the eyes can seem red and inflamed.
Hair loss is progressive and older individuals have almost no hair (alopecia). The skin feels rough most notably on the trunk and the extremities. Hair follicles can become infected particularly on the scalp and neck areas. The enamel of the teeth is thinned and dental caries are common. The toenails are often abnormal.
Multigenerational pedigrees consistent with autosomal dominant inheritance have been reported with vertical transmission of this skin disorder. Parents with this condition can expect it to appear in each of their children with a 50% probability.
However, no DNA change (mutation) has been found.
The skin and hair changes may be present at birth or in early childhood. Dermatologists and pediatricians are likely to collaborate in the diagnosis and care.
Dental caries need prompt attention. No effective treatment for the skin and hair problems have been found. Nothing is known regarding longevity.