Ichthyosis follicularis with alopecia and photophobia syndrome

Ichthyosis follicularis, alopecia, and photophobia syndrome is an extremely rare genetic syndrome caused by mutations in the MBTPS2 gene. It is extremely rare: there were only 40 known cases until 2011.

Symptoms and signs

The main symptoms are given by its name: dry, scaly skin, absence of hair and excessive sensitivity to light. Additional features include short stature, mental retardation, seizures and a tendency for respiratory infections.

Genetics

Most cases are X-linked recessive but there may be as many as three types. As well as a classical X-linked form, there is another type where females are partially affected and another where females have full IFAP symptoms. It is caused by mutations in the MBTPS2 gene.

Diagnosis

Diagnosis is based on appearance and family history. KID syndrome or keratosis follicularis spinulosa decalvans have some similar symptoms and must be eliminated.