Ichthyosis follicularis with alopecia and photophobia syndrome

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is an extremely rare genetic syndrome caused by mutations in the MBTPS2 gene. ^[2]: 564 It is extremely rare: there were only 40 known cases (all male) until 2011.^[3]

IFAP syndrome
Ichthyosis follicularis with alopecia and photophobia syndrome is inherited via X-linked recessive manner(though other forms of inheritance have occurred)[1]
Specialty	Medical genetics

Symptoms and signs

The main symptoms are given by its name: dry, scaly skin (ichthyosis), absence of hair (atrichia) and excessive sensitivity to light (photophobia). Additional features include short stature, mental retardation, seizures and a tendency for respiratory infections.^[4]

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.^[1]

Diagnosis

Diagnosis is based on appearance and family history. KID syndrome or keratosis follicularis spinulosa decalvans have some similar symptoms and must be eliminated.^[5]

See also

• Cicatricial alopecia
• List of cutaneous conditions