Dry, scaly skin and alopecia are usually evident at birth. There is marked absence of hair throughout the body. The skin is generally ichthyotic and erythematous, with continuous lamellar desquamation of surface skin. Generalized follicular hyperkeratosis is present on the scalp, dorsal surface of the limbs and on the abdomen. Most patients are completely bald.
In some patients the skin, hair and corneal disease is accompanied by severe internal anomalies such as kidney dysplasia, brain anomalies and mental retardation, Hirschsprung disease, cleft palate, external ear malformations, cryptorchidism, and skeletal deformities, a combination of signs that some have called BRESEK/BRESHECK syndrome. Depending upon how extensive the organ involvement, the prognosis is usually guarded and patients may not live beyond early childhood.
It is uncertain if IFAP refers to a single disorder or if two disorders are involved (see Genetics).
