Inherited skin disorders are sometimes lumped together as ‘genodermatoses’, of which IFAP is a member. It is included in this database because of the severity of eye (cornea) involvement.
The absence of hair (atrichia) is usually evident at birth. Often infants are highly sensitive to light (photophobia) as well because the surface of the cornea (windshield of the eye), consisting of epithelial cells, is inflamed. Such inflammation eventually leads to scarring of the corneal surface followed by the growth of new blood vessels. This process reduces the transparency of the cornea with the result that vision is impaired, sometimes to a serious degree.
Most patients are completely bald (alopecia). Hair is also missing over the rest of the body including the eyelids and eyebrows. The skin is often dry and scaly and there may be reddened areas suggesting inflammation. Enlarged hair follicles contribute to the roughness of the skin while shedding of superficial skin cells is accelerated.
Some patients in addition have growth problems and severe organ deformities including the brain. Developmental problems may be seen, including mental retardation. The intestines, kidneys, ears, male sex organs, hard palate, and vertebrae may be involved. When the skin and eye involvement occurs with these organ anomalies, the condition is sometimes called the BRESHECK syndrome.
This is an X-linked recessive disorder caused by a change (mutation) in a gene located on the X chromosome. Thus, males are primarily affected and have more severe disease. Females may have some manifestations of the skin and hair problems but usually do not have generalized organ disease.
Males with this disorder do not pass it to their children. However, all of their daughters will be ‘carriers’ and sometimes have skin and hair problems and so might have sons with IFAP syndrome. Females with the mutation would be expected to transmit this condition to half their sons while half of their daughters will carry the mutation and could have affected sons.
The diagnosis can be made at birth or during the neonatal period, usually by the collaboration of dermatologists and ophthalmologists. There is no known effective treatment with the result that blindness can occur by early adult life. Individuals who have the full-blown BRESHECK syndrome may not live to adulthood, depending upon the severity of organ involvement. This is a rare disorder and much more needs to be learned regarding the natural history of this condition.